Subset Code Subset Name NCIt Code Cellosaurus Preferred Term NCIt Preferred Term NCIt Synonym NCIt Definition C165258 Cellosaurus Disease Terminology C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency "17 Beta HSD3 Deficiency || Pseudohermaphroditism, Male, with Gynecomastia" "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." C165258 Cellosaurus Disease Terminology C74983 1p36 Deletion Syndrome 1p36 Deletion Syndrome 1p Telomere Deletion Syndrome "A rare syndrome caused by the deletion of the distal band on the short arm of chromosome 1. It is characterized by a distinctive facial appearance (microcephaly, deep set eyes, flat nose, and pointed chin), developmental abnormalities, mental retardation, seizures, hypotonia, hearing loss, and heart defects." C165258 Cellosaurus Disease Terminology C128187 2-Hydroxyglutaric Aciduria 2-Hydroxyglutaric Aciduria "A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified based on the steroisomeric composition of the elevated alpha-hydroxyglutaric acid metabolites. Additionally, the disease may be categorized by the genetic mutation that is causative. Genes associated with 2-hydroxyglutaric aciduria are L2HGDH, D2HGDH, IDH2, and/or SLC25A1. Generally, there is nervous system involvement, but the clinical manifestations are variable and are dependent on the specific type of defect present." C165258 Cellosaurus Disease Terminology C2989 22q11.2 Deletion Syndrome 22q11.2 Deletion Syndrome DiGeorge Anomaly || DiGeorge Syndrome || DiGeorge's Syndrome "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." C165258 Cellosaurus Disease Terminology C173146 3-Methylglutaconic Aciduria Type 5 3-Methylglutaconic Aciduria Type 5 3-Methylglutaconic Aciduria Type V || Dilated Cardiomyopathy with Ataxia "An autosomal recessive subtype of 3-methylglutaconic aciduria caused by mutation(s) in the DNAJC19 gene, encoding mitochondrial import inner membrane translocase subunit TIM14." C165258 Cellosaurus Disease Terminology C120197 "46,XX Gonadal Dysgenesis" "46,XX Gonadal Dysgenesis" "46,XX Ovarian Dysgenesis" "Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype." C165258 Cellosaurus Disease Terminology C179867 "46,XX Sex Reversal 1" "46,XX Sex Reversal 1" "XX Male, SRY-Positive" "Presence of testes in an individual with a 46,XX karyotype associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein (SRY-positive)." C165258 Cellosaurus Disease Terminology C120198 "46,XY Gonadal Dysgenesis" "46,XY Gonadal Dysgenesis" Swyer Syndrome Gonadal dysgenesis in an individual with 46.XY karyotype. C165258 Cellosaurus Disease Terminology C128188 "46,XY Sex Reversal 1" "46,XY Sex Reversal 1" "Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein." C165258 Cellosaurus Disease Terminology C132270 "46,XY Sex Reversal 4" "46,XY Sex Reversal 4" Sex reversal in an individual associated with a 9p24.3 deletion. C165258 Cellosaurus Disease Terminology C129718 "47,XXX Syndrome" "47,XXX Syndrome" "A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language." C165258 Cellosaurus Disease Terminology C85237 "47,XYY Syndrome" "47,XYY Syndrome" XYY Syndrome "A condition caused by the presence of an extra Y chromosome resulting in 47,XYY karyotype in an individual with male phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. Testicular function and size are normal." C165258 Cellosaurus Disease Terminology C185635 "49,XXXXY Syndrome" "49,XXXXY Syndrome" "A condition caused by the presence of an three extra X chromosomes resulting in 49,XXXXY karyotype in an individual with male phenotype." C165258 Cellosaurus Disease Terminology C98699 5 Alpha Steroid Reductase 2 Deficiency 5 Alpha Steroid Reductase 2 Deficiency Pseudovaginal Perineoscrotal Hypospadias An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism. C165258 Cellosaurus Disease Terminology C84524 5' 10' Methylenetetrahydrofolate Reductase Deficiency 5' 10' Methylenetetrahydrofolate Reductase Deficiency 5' 10' Methylenetetrahydrofolate Reductase Deficiency (MTHFR) "A rare disorder associated with mental retardation, spasticity, and early death." C165258 Cellosaurus Disease Terminology C8285 AIDS-Related Immunoblastic Lymphoma AIDS-Related Immunoblastic Lymphoma AIDS Associated Immunoblastic Lymphoma || AIDS Related Immunoblastic Large Cell Lymphoma || AIDS-Associated Immunoblastic Large Cell Lymphoma A morphologic variant of diffuse large B-cell lymphoma occurring in HIV-positive patients. C165258 Cellosaurus Disease Terminology C3992 AIDS-Related Kaposi Sarcoma AIDS-Related Kaposi Sarcoma "AIDS Related Kaposi's Sarcoma || AIDS, Kaposi's Sarcoma || AIDS-Related Kaposi's Sarcoma || Autoimmune Deficiency Syndrome-Related Kaposi Sarcoma || Epidemic Kaposi's Sarcoma || Kaposi's Sarcoma AIDS Related || Kaposi's Sarcoma Epidemic Type" The most aggressive form of Kaposi sarcoma. It presents in patients who are infected with the human immunodeficiency virus. It can affect the skin and internal organs. C165258 Cellosaurus Disease Terminology C5051 AIDS-Related Non-Hodgkin Lymphoma AIDS-Related Non-Hodgkin Lymphoma AIDS-Related Non-Hodgkin's Lymphoma A non-Hodgkin lymphoma that develops in a patient with AIDS. C165258 Cellosaurus Disease Terminology C185246 AMeD Syndrome AMeD Syndrome "Aplastic Anemia, Mental Retardation and Dwarfism Syndrome || Bone Marrow Failure Syndrome 7, Digenic || Fanconi Anemia-Like IBMFS || Fanconi Anemia-Like Inherited Bone Marrow Failure Syndrome" "A digenic recessive condition caused by mutation(s) in the ADH5 gene accompanied by a specific mutation in the ALDH2 gene. It is characterized by global developmental delay, impaired intellectual development, bone marrow failure, and myelodysplastic syndrome." C165258 Cellosaurus Disease Terminology C3741 Abdominal (Mesenteric) Fibromatosis Abdominal (Mesenteric) Fibromatosis Abdominal Desmoid || Abdominal Desmoid Tumor || Abdominal Fibromatosis || Intraabdominal Desmoid || Intraabdominal Desmoid Tumor || Intraabdominal Fibromatosis || Mesenteric Desmoid || Mesenteric Desmoid Tumor || Mesenteric Fibromatosis || Peritoneal Desmoid Fibromatosis "An insidious poorly circumscribed neoplasm arising from the deep soft tissues of the abdomen. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern." C165258 Cellosaurus Disease Terminology C84525 Abetalipoproteinemia Abetalipoproteinemia "An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. It results in multiple vitamin deficiencies. Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia." C165258 Cellosaurus Disease Terminology C26687 Acanthosis Nigricans Acanthosis Nigricans "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." C165258 Cellosaurus Disease Terminology C84526 Acatalasemia Acatalasemia Acatalasia A rare autosomal recessive disorder characterized by deficiency of catalase in the peripheral blood. It is usually manifested with periodontal infections. C165258 Cellosaurus Disease Terminology C189281 Aceruloplasminemia Aceruloplasminemia "An autosomal recessive condition caused by mutation(s) in the CP gene, encoding ceruloplasmin. It is characterized by low concentrations of ceruloplasmin." C165258 Cellosaurus Disease Terminology C34345 Achondroplasia Achondroplasia "An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia." C165258 Cellosaurus Disease Terminology C168757 Achromatopsia 2 Achromatopsia 2 "An autosomal recessive condition caused by mutation(s) in the CNGA3 gene, encoding cyclic nucleotide-gated cation channel subunit alpha-3. It is characterized by achromatopsia." C165258 Cellosaurus Disease Terminology C164226 Achromatopsia 5 Achromatopsia 5 "An autosomal recessive condition caused by mutation(s) in the PDE6C gene, encoding cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha. It is characterized by low visual acuity and severe color vision defects. This condition is closely related to cone dystrophy 4, which is also caused by mutation(s) in the PDE6C gene." C165258 Cellosaurus Disease Terminology C4022 Acral Lentiginous Melanoma Acral Lentiginous Melanoma Acral Lentiginous Malignant Melanoma || Acral Melanoma "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells." C165258 Cellosaurus Disease Terminology C128802 Acrodermatitis Enteropathica Acrodermatitis Enteropathica "An autosomal recessive genetic disorder caused by mutations in the SLC39A4 gene, encoding zinc transporter ZIP4. The condition is characterized by zinc deficiency, periorificial and acral dermatitis, and diarrhea." C165258 Cellosaurus Disease Terminology C179298 "Acromesomelic Dysplasia, PRKG2 Type" "Acromesomelic Dysplasia, PRKG2 Type" "A genetic condition caused by mutation(s) in the PRKG2 gene, encoding cGMP-dependent protein kinase 2. It is characterized by acromelia and mesomelia." C165258 Cellosaurus Disease Terminology C3148 Actinic Keratosis Actinic Keratosis Actinic (Solar) Keratosis || Solar Keratosis "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants." C165258 Cellosaurus Disease Terminology C4673 Acute Biphenotypic Leukemia Acute Biphenotypic Leukemia "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C8923 Acute Erythroid Leukemia Acute Erythroid Leukemia Acute Erythroblastic Leukemia || Erythroblastic Leukemia || M6 Acute Myeloid Leukemia "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C133887 Acute Hepatic Porphyria Acute Hepatic Porphyria ALAD Deficiency || Delta-Aminolevulinate Dehydratase Deficiency || Porphobilinogen Synthase Deficiency C165258 Cellosaurus Disease Terminology C84536 Acute Intermittent Porphyria Acute Intermittent Porphyria "Porphyria, Acute Intermittent" "A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain." C165258 Cellosaurus Disease Terminology C7464 Acute Leukemia of Ambiguous Lineage Acute Leukemia of Ambiguous Lineage Acute Leukemia of Indeterminate Lineage "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C3167 Acute Lymphoblastic Leukemia Acute Lymphoblastic Leukemia Lymphoblastic Leukemia || Precursor Cell Lymphoblastic Leukemia || Precursor Lymphoblastic Leukemia "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." C165258 Cellosaurus Disease Terminology C3170 Acute Megakaryoblastic Leukemia Acute Megakaryoblastic Leukemia Acute M7 Myeloid Leukemia || Acute Megakaryoblastic Leukemia (FAB Type M7) || Acute Megakaryocytic Leukemia || FAB M7 "An acute myeloid leukemia in which at least 50% of the blasts are of megakaryocytic lineage. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C7171 Acute Monoblastic Leukemia Acute Monoblastic Leukemia Acute Monoblastic Leukemia (FAB M5a) "An acute myeloid leukemia in which the monoblasts represent 80% or more of the total cellular population. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C3171 Acute Myeloid Leukemia Acute Myeloid Leukemia AML - Acute Myeloid Leukemia || Acute Myeloblastic Leukemia || Acute Myelogenous Leukemia || Acute Myelogenous Leukemias || Hematopoeitic - Acute Myleogenous Leukemia (AML) "A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification)." C165258 Cellosaurus Disease Terminology C8460 Acute Myeloid Leukemia with Minimal Differentiation Acute Myeloid Leukemia with Minimal Differentiation "AML with Minimal Differentiation || Acute Myeloblastic Leukemia with Minimal Differentiation || Acute Myeloblastic Leukemia, Minimally Differentiated || Acute Myelogenous Leukemia with Minimal Differentiation || Acute Myeloid Leukemia with Minimal Differentiation (MO) || Acute Myeloid Leukemia, Minimally Differentiated || M0 Acute Myeloblastic Leukemia || M0 Acute Myelogenous Leukemia || M0 Acute Myelogenous Leukemia with Minimal Differentiation || M0 Myeloid Leukemia || M0 Myeloid Leukemia with Minimal Differentiation" "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C7600 Acute Myeloid Leukemia with Myelodysplasia-Related Changes Acute Myeloid Leukemia with Myelodysplasia-Related Changes AML with Myelodysplasia-Related Changes "An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood, and either a previous history of myelodysplastic syndrome, multilineage dysplasia or myelodysplastic syndrome-related cytogenetic abnormalities. There is no history of prior cytotoxic therapy for an unrelated disorder, and there is absence of the cytogenetic abnormalities that are present in acute myeloid leukemia with recurrent genetic abnormalities." C165258 Cellosaurus Disease Terminology C82426 "Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM" "Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM" Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2::MECOM An acute myeloid leukemia associated with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2) resulting in the reposition of a distal GATA2 enhancer to activate MECOM expression. It may present de novo or follow a myelodysplastic syndrome. The clinical course is aggressive. C165258 Cellosaurus Disease Terminology C132105 Acute Myeloid Leukemia with t(6;11)(q27;q23); KMT2A-MLLT4 Acute Myeloid Leukemia with t(6;11)(q27;q23); MLLT4-MLL Acute Myeloid Leukemia with t(6;11)(q27;q23); KMT2A-MLLT4 || Acute Myeloid Leukemia with t(6;11)(q27;q23); KMT2A::MLLT4 || Acute Myeloid Leukemia with t(6;11)(q27;q23); MLL-MLLT4 A rare acute myeloid leukemia that occurs in childhood. It is characterized by t(6;11)(q27;q23) which results in MLLT4-MLL fusion. It is associated with an unfavorable prognosis. C165258 Cellosaurus Disease Terminology C7463 Acute Myelomonocytic Leukemia Acute Myelomonocytic Leukemia Acute M4 Myeloid Leukemia || Acute Myelomonocytic Leukemia (FAB Type M4) "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C3182 Acute Promyelocytic Leukemia with PML-RARA Acute Promyelocytic Leukemia with PML-RARA AML with t(15;17)(q22;q12) || APML - Acute promyelocytic leukemia || Acute Promyelocytic Leukemia || Acute Promyelocytic Leukemia with PML::RARA || Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA || FAB M3 || Promyelocytic Leukemia An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the PML-RARA fusion. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO) C165258 Cellosaurus Disease Terminology C84539 "Acyl-CoA Dehydrogenase, Short-Chain Deficiency" "Acyl-CoA Dehydrogenase, Short-Chain Deficiency" Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) || Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCAD) "A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive." C165258 Cellosaurus Disease Terminology C26689 Addison's Disease Addison's Disease Addison Disease || Chronic Primary Adrenal Insufficiency A long-standing and persistent diminished production of adrenocortical hormones due to a disorder originating within the adrenal glands. C165258 Cellosaurus Disease Terminology C121564 Adenine Phosphoribosyltransferase Deficiency Adenine Phosphoribosyltransferase Deficiency An inherited condition caused by mutations in the APRT gene that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones. C165258 Cellosaurus Disease Terminology C21771 Adenocarcinoma of the Mouse Pulmonary System Adenocarcinoma of the Mouse Pulmonary System C165258 Cellosaurus Disease Terminology C63866 Adenocarcinoma of the Rat Colon Adenocarcinoma of the Rat Colon Rat Colon Adenocarcinoma C165258 Cellosaurus Disease Terminology C63868 Adenocarcinoma of the Rat Glandular Stomach Adenocarcinoma of the Rat Glandular Stomach Rat Glandular Stomach Adenocarcinoma C165258 Cellosaurus Disease Terminology C64011 Adenocarcinoma of the Rat Mammary Gland Adenocarcinoma of the Rat Mammary Gland C165258 Cellosaurus Disease Terminology C64013 Adenocarcinoma of the Rat Prostate Adenocarcinoma of the Rat Prostate C165258 Cellosaurus Disease Terminology C63961 Adenocarcinoma of the Rat Uterus Adenocarcinoma of the Rat Uterus Rat Uterus Adenocarcinoma C165258 Cellosaurus Disease Terminology C21762 Adenoma of the Mouse Pulmonary System Adenoma of the Mouse Pulmonary System C165258 Cellosaurus Disease Terminology C3962 Adenosine Deaminase Deficiency Adenosine Deaminase Deficiency ADA-SCID || Adenosine Deaminase Severe Combined Immune Deficiency || Adenosine Deaminase Severe Combined Immunodeficiency "An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied." C165258 Cellosaurus Disease Terminology C9325 Adrenal Cortex Carcinoma Adrenal Cortical Carcinoma Adrenal Cortex Adenocarcinoma || Adrenal Cortex Cancer || Adrenal Cortex Carcinoma || Adrenal Cortical Adenocarcinoma || Adrenocortical Carcinoma || Carcinoma of Adrenal Cortex || Carcinoma of the Adrenal Cortex "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." C165258 Cellosaurus Disease Terminology C129301 Adrenal Gland Hyperplasia II Adrenal Gland Hyperplasia II "3-Beta-Hydroxysteroid Dehydrogenase Deficiency || Adrenal Gland Hyperplasia, Congenital, due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency" "Decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD3B2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia." C165258 Cellosaurus Disease Terminology C129302 Adrenal Gland Hyperplasia III Adrenal Gland Hyperplasia III "21-Hydroxylase Deficieny || Adrenal Gland Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency || CYP21 Deficiency || Congenital Adrenal Hyperplasia 1" "Decreased activity of the enzyme 21-hydroxylase, associated with mutation(s) in the CYP21A2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia (CAH) and is the cause of approximately 95% of CAH." C165258 Cellosaurus Disease Terminology C4827 Adrenal Gland Neuroblastoma Adrenal Gland Neuroblastoma Adrenal Neuroblastoma || Neuroblastoma of Adrenal || Neuroblastoma of Adrenal Gland || Neuroblastoma of the Adrenal || Neuroblastoma of the Adrenal Gland A neuroblastoma arising from the adrenal gland. C165258 Cellosaurus Disease Terminology C3326 Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma Adrenal Gland Chromaffin Paraganglioma || Adrenal Gland Chromaffinoma || Adrenal Gland Paraganglioma || Adrenal Medullary Paraganglioma || Adrenal Medullary Pheochromocytoma || Adrenal Pheochromocytoma || Chromaffin Paraganglioma of the Adrenal Gland || Intraadrenal Paraganglioma || Pheochromocytoma "A neuroendocrine neoplasm of the sympathetic nervous system that arises from the chromaffin cells of the adrenal medulla and secretes catecholamines. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present." C165258 Cellosaurus Disease Terminology C61252 Adrenoleukodystrophy Adrenoleukodystrophy "A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death." C165258 Cellosaurus Disease Terminology C7965 Adult Acute Megakaryoblastic Leukemia Adult Acute Megakaryoblastic Leukemia Adult Acute M7 Leukemia || Adult Acute Megakaryocytic Leukemia || Adult Acute Megakaryocytic Leukemia (M7) || M7 Adult Acute Leukemia || M7 Adult Acute Megakaryocytic Leukemia An acute megakaryoblastic leukemia occurring in adults. C165258 Cellosaurus Disease Terminology C8263 Adult Acute Monocytic Leukemia Adult Acute Monocytic Leukemia Adult Acute Differentiated Monocytic Leukemia (M5b) || M5b Adult Acute Differentiated Monocytic Leukemia || M5b Adult Acute Leukemia An acute monocytic leukemia occurring in adults. C165258 Cellosaurus Disease Terminology C9154 Adult Acute Myeloid Leukemia Adult Acute Myeloid Leukemia Adult AML || Adult ANLL || Adult Acute Myeloblastic Leukemia || Adult Acute Myelogenous Leukemia || Adult Acute Non-Lymphoblastic Leukemia || Adult Acute NonLymphoblastic Leukemia An acute myeloid leukemia occurring in adults. C165258 Cellosaurus Disease Terminology C7961 Adult Acute Myeloid Leukemia with Maturation Adult Acute Myeloid Leukemia with Maturation Adult Acute Granulocytic Leukemia with Maturation || Adult Acute M2 Leukemia || Adult Acute Myeloblastic Leukemia with Maturation || Adult Acute Myeloblastic Leukemia with Maturation (M2) || Adult Acute Myelocytic Leukemia with Maturation || Adult Acute Myelogenous Leukemia with Maturation || M2 Adult Acute Granulocytic Leukemia || M2 Adult Acute Granulocytic Leukemia with Maturation || M2 Adult Acute Myeloblastic Leukemia || M2 Adult Acute Myeloblastic Leukemia with Maturation || M2 Adult Acute Myelocytic Leukemia || M2 Adult Acute Myelocytic Leukemia with Maturation || M2 Adult Acute Myelogenous Leukemia || M2 Adult Acute Myelogenous Leukemia with Maturation || M2 Adult Acute Myeloid Leukemia || M2 Adult Acute Myeloid Leukemia with Maturation An acute myeloid leukemia with maturation occurring in adults. C165258 Cellosaurus Disease Terminology C8303 Adult Acute Myeloid Leukemia with Minimal Differentiation Adult Acute Myeloid Leukemia with Minimal Differentiation Adult Acute M0 Leukemia || Adult Acute Minimally Differentiated Myeloid Leukemia (M0) || Adult Acute Myeloblastic Leukemia with Minimal Differentiation || Adult Acute Myelogenous Leukemia with Minimal Differentiation || Adult Acute Myeloid Leukemia Minimally Differentiated || M0 Adult AML || M0 Adult ANLL || M0 Adult Acute Leukemia || M0 Adult Acute Myeloblastic Leukemia || M0 Adult Acute Myeloblastic Leukemia with Minimal Differentiation || M0 Adult Acute Myelogenous Leukemia || M0 Adult Acute Myelogenous Leukemia with Minimal Differentiation || M0 Adult Acute Myeloid Leukemia with Minimal Differentiation An acute myeloid leukemia with minimal differentiation occurring in adults. C165258 Cellosaurus Disease Terminology C9143 Adult B Acute Lymphoblastic Leukemia Adult B Acute Lymphoblastic Leukemia Adult B Cell ALL || Adult B Cell Acute Lymphoblastic Leukemia || Adult B-Cell ALL || Adult B-Cell Acute Lymphoblastic Leukemia || Adult Precursor B-Lymphoblastic Leukemia || B Cell Adult ALL || B Cell Adult Acute Lymphoblastic Leukemia || B-Cell Adult ALL || B-Cell Adult Acute Lymphoblastic Leukemia A B acute lymphoblastic leukemia that occurs during adulthood. C165258 Cellosaurus Disease Terminology C114819 Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR::ABL1 || Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 A B acute lymphoblastic leukemia that occurs during adulthood. It is characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome. C165258 Cellosaurus Disease Terminology C7954 Adult Burkitt Leukemia Adult Burkitt Leukemia Adult Burkitt's Leukemia The leukemic counterpart of Burkitt lymphoma occurring in adults. The characteristic Burkitt cells are seen in the bone marrow and the peripheral blood. This is an aggressive leukemia. C165258 Cellosaurus Disease Terminology C27373 Adult Desmoplastic Small Round Cell Tumor Adult Desmoplastic Small Round Cell Tumor A desmoplastic small round cell tumor occurring in adults. C165258 Cellosaurus Disease Terminology C7956 Adult Hepatocellular Carcinoma Adult Hepatocellular Carcinoma Adult Hepatoma || Adult Primary Carcinoma of Liver Cell || Adult Primary Carcinoma of the Liver Cell || Adult Primary Hepatocellular Carcinoma || Adult Primary Hepatoma || Adult Primary Liver Cell Carcinoma A hepatocellular carcinoma occurring in adults. C165258 Cellosaurus Disease Terminology C7873 Adult Immunoblastic Lymphoma Adult Immunoblastic Lymphoma Adult Immunoblastic Large Cell Lymphoma A morphologic variant of diffuse large B-cell lymphoma occurring in adults. It is characterized by the presence of large lymphoid cells with abundant cytoplasm and prominent nucleoli. C165258 Cellosaurus Disease Terminology C68693 Adult Pure Erythroid Leukemia Adult Pure Erythroid Leukemia A pure erythroid leukemia occurring in adults. C165258 Cellosaurus Disease Terminology C9142 Adult T Acute Lymphoblastic Leukemia Adult T Acute Lymphoblastic Leukemia Adult Precursor T-Lymphoblastic Leukemia || Adult T-Acute Lymphoblastic Leukemia || Adult T-Cell Acute Lymphoblastic Leukemia || T Cell Adult ALL || T-Cell Adult ALL An acute T-lymphoblastic leukemia occurring in adults. C165258 Cellosaurus Disease Terminology C7226 Adult T Lymphoblastic Lymphoma Adult T Lymphoblastic Lymphoma Adult Precursor T-Lymphoblastic Lymphoma T-lymphoblastic lymphoma occurring in adults. C165258 Cellosaurus Disease Terminology C3184 Adult T-Cell Leukemia/Lymphoma Adult T-Cell Leukemia/Lymphoma ATLL || Adult T Cell Lymphoma/Leukemia || Adult T-Cell Lymphoma/Leukemia || HTLV-1 Associated Adult T-Cell Lymphoma/Leukemia || HTLV-I Associated Adult T-Cell Leukemia/Lymphoma "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1). Adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." C165258 Cellosaurus Disease Terminology C153289 Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia HDLS || Hereditary Diffuse Leukoencephalopathy with Spheroids || POLD || Pigmentary Orthochromatic Leukodystrophy "A rapidly progressive neurodegenerative disorder, caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene, that presents in adulthood with a variety of neuropsychiatric and motor disturbances. Hallmark features include diffuse myelin loss and axonal destruction, neuroaxonal spheroids, and pigmented macrophages and other glia." C165258 Cellosaurus Disease Terminology C84391 Age-Related Macular Degeneration Age-Related Macular Degeneration Age-Related Macular Degeneration "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." C165258 Cellosaurus Disease Terminology C187704 Age-Related Macular Degeneration-13 Age-Related Macular Degeneration-13 "An autosomal dominant subtype of age-related macular degeneration associated with mutation(s) in the CFI gene, encoding complement factor I." C165258 Cellosaurus Disease Terminology C174215 Age-Related Macular Degeneration-4 Age-Related Macular Degeneration-4 "A subtype of age-related macular degeneration associated with mutation(s) in the CFH gene, encoding complement factor H." C165258 Cellosaurus Disease Terminology C165501 Aicardi-Goutieres Syndrome 1 Aicardi-Goutieres Syndrome 1 "AGS1 || Cree Encephalitis || Encephalopathy, Familial Infantile, with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis || Pseudotoxoplasmosis Syndrome" "A heritable condition, caused by mutation(s) in the TREX1 gene, encoding three-prime repair exonuclease 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon." C165258 Cellosaurus Disease Terminology C165673 Aicardi-Goutieres Syndrome 2 Aicardi-Goutieres Syndrome 2 "An inherited, usually autosomal recessive condition cause by mutation(s) in the RNASEH2B gene, encoding ribonuclease H2 subunit B. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon." C165258 Cellosaurus Disease Terminology C168564 Aicardi-Goutieres Syndrome 5 Aicardi-Goutieres Syndrome 5 AGS5 "A genetic condition usually inherited in an autosomal recessive pattern. It is cause by mutation(s) in the SAMHD1 gene, encoding deoxynucleoside triphosphate triphosphohydrolase SAMHD1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon." C165258 Cellosaurus Disease Terminology C168585 Aicardi-Goutieres Syndrome 7 Aicardi-Goutieres Syndrome 7 AGS7 "A genetic condition usually inherited in an autosomal dominant pattern. It is cause by mutation(s) in the IFIH1 gene, encoding interferon-induced helicase C domain-containing protein 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon." C165258 Cellosaurus Disease Terminology C35139 Alagille Syndrome Alagille Syndrome Arteriohepatic Dysplasia "An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation." C165258 Cellosaurus Disease Terminology C84543 Albinism Albinism "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin." C165258 Cellosaurus Disease Terminology C118434 Albright's Hereditary Osteodystrophy Albright's Hereditary Osteodystrophy "Albright's Hereditary Osteodystrophy with Multiple Hormone Resistance || PHP1A || Pseudohypoparathyroidism, Type IA" "A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism." C165258 Cellosaurus Disease Terminology C34782 Alcoholic Cirrhosis Alcoholic Cirrhosis A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. C165258 Cellosaurus Disease Terminology C84545 Alexander Disease Alexander Disease "A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity." C165258 Cellosaurus Disease Terminology C84546 Alkaptonuria Alkaptonuria "A rare autosomal recessive disorder characterized by abnormalities in the metabolism of phenylalanine and tyrosine. It results in the accumulation in the blood of homogentisic acid which is excreted in the urine. The presence of homogentisic acid in the urine causes its color to turn black. The excessive amount of homogentisic acid in the blood may cause damage to cartilage and heart valves, and may result in the formation of kidney stones." C165258 Cellosaurus Disease Terminology C118843 Allan-Herndon-Dudley Syndrome Allan-Herndon-Dudley Syndrome "A rare, X-linked recessive inherited syndrome caused by mutations in the SLC16A2 (MCT8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity." C165258 Cellosaurus Disease Terminology C79532 Allergic Rhinitis Allergic Rhinitis "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." C165258 Cellosaurus Disease Terminology C50575 Alopecia Alopecia Alopecia Areata || Hair Loss "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions." C165258 Cellosaurus Disease Terminology C34368 Alpha Thalassemia Alpha Thalassemia A genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule. C165258 Cellosaurus Disease Terminology C118631 Alpha Thalassemia X-Linked Mental Retardation Syndrome Alpha Thalassemia X-Linked Mental Retardation Syndrome Alpha Thalassemia/Mental Retardation Syndrome X-Linked "A rare, X-linked recessive inherited syndrome caused by mutations in the ATRX gene. It is characterized by intellectual disability, developmental delays, hypotonia, widely spaced eyes, small nose, low-set ears, tented upper lip, skeletal abnormalities, and a mild form of alpha thalassemia." C165258 Cellosaurus Disease Terminology C84397 Alpha-1 Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency "A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure." C165258 Cellosaurus Disease Terminology C84548 Alpha-Mannosidosis Alpha-Mannosidosis "An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead." C165258 Cellosaurus Disease Terminology C98841 Alpha-Methylacetoacetic Aciduria Alpha-Methylacetoacetic Aciduria 3-Ketothiolase Deficiency || Beta-Ketothiolase Deficiency "A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma." C165258 Cellosaurus Disease Terminology C34842 Alport Syndrome Alport Syndrome Alport's Syndrome || Hereditary Nephritis "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities." C165258 Cellosaurus Disease Terminology C84549 Alstrom Syndrome Alstrom Syndrome Alström Syndrome "A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure." C165258 Cellosaurus Disease Terminology C98809 Alveolar Capillary Dysplasia Alveolar Capillary Dysplasia A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy. C165258 Cellosaurus Disease Terminology C3749 Alveolar Rhabdomyosarcoma Alveolar Rhabdomyosarcoma Monomorphous Round Cell Rhabdomyosarcoma A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities. C165258 Cellosaurus Disease Terminology C170774 Alveolar Ridge Squamous Cell Carcinoma Alveolar Ridge Squamous Cell Carcinoma Squamous cell carcinoma arising from the upper or lower alveolar ridge. C165258 Cellosaurus Disease Terminology C3750 Alveolar Soft Part Sarcoma Alveolar Soft Part Sarcoma "A rare malignant neoplasm characterized by the presence of large epithelioid cells with abundant cytoplasm forming nests and pseudoalveolar structures. The groups of the epithelioid cells are separated by thin-walled sinusoidal spaces. It occurs most often in adolescents and young adults. In adults the most common sites of involvement are the extremities, and in infants and children, the head and neck. It usually presents as a slowly growing mass and it frequently metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, bone, and brain." C165258 Cellosaurus Disease Terminology C2866 Alzheimer's Disease Alzheimer's Disease Alzheimer Disease || Alzheimer's Dementia "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." C165258 Cellosaurus Disease Terminology C146894 Alzheimer's Disease 1 Alzheimer's Disease 1 "Familial Alzheimer's Disease, Type 1" "Alzheimer's disease caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The onset of this condition typically occurs before age 65." C165258 Cellosaurus Disease Terminology C169104 Alzheimer's Disease 17 Alzheimer's Disease 17 Alzheimer Disease 17 "A form of Alzheimer's disease associated with mutation(s) in the TREM2 gene, encoding triggering receptor expressed on myeloid cells 2." C165258 Cellosaurus Disease Terminology C123412 Alzheimer's Disease 3 Alzheimer's Disease 3 "AD3 || Familial Alzheimer Disease, Type 3 || Familial Alzheimer's Disease, Type 3" Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. C165258 Cellosaurus Disease Terminology C123413 Alzheimer's Disease 4 Alzheimer's Disease 4 "Familial Alzheimer Disease, Type 4 || Familial Alzheimer's Disease, Type 4" Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene. C165258 Cellosaurus Disease Terminology C4633 Amelanotic Cutaneous Melanoma Amelanotic Cutaneous Melanoma Amelanotic Malignant Melanoma (of Skin) || Amelanotic Malignant Melanoma of Skin || Amelanotic Malignant Melanoma of the Skin || Amelanotic Malignant Skin Melanoma || Amelanotic Melanoma of Skin || Amelanotic Melanoma of the Skin || Amelanotic Skin Melanoma "A rare cutaneous melanoma where most of the melanoma tumor cells are devoid of melanin pigment. Amelanotic melanomas are more likely to present at a more advanced stage of disease, compared with pigmented melanomas." C165258 Cellosaurus Disease Terminology C3802 Amelanotic Melanoma Amelanotic Melanoma A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction. C165258 Cellosaurus Disease Terminology C4313 Ameloblastoma Ameloblastoma "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize." C165258 Cellosaurus Disease Terminology C6650 Ampulla of Vater Adenocarcinoma Ampulla of Vater Adenocarcinoma Adenocarcinoma of Ampulla of Vater || Ampullary Adenocarcinoma || Invasive Adenocarcinoma of the Ampullary Region "An invasive carcinoma with glandular differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." C165258 Cellosaurus Disease Terminology C27418 Ampulla of Vater Adenosquamous Carcinoma Ampulla of Vater Adenosquamous Carcinoma "A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." C165258 Cellosaurus Disease Terminology C95966 Ampulla of Vater Hepatoid Adenocarcinoma Ampulla of Vater Hepatoid Adenocarcinoma A very rare adenocarcinoma that arises from the ampulla of Vater. It is usually of the intestinal type and is characterized by the presence of malignant polygonal cells with abundant eosinophilic cytoplasm resembling hepatocytes. C165258 Cellosaurus Disease Terminology C34373 Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis Lou Gehrig Disease A neurodegenerative disorder characterized by progressive degeneration of the motor neurons of the central nervous system. It results in weakness and atrophy of the muscles which leads to an inability to initiate and control voluntary movements. C165258 Cellosaurus Disease Terminology C168749 Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 1 "An inherited form of amyotrophic lateral sclerosis, usually inherited in an autosomal dominant pattern, caused by mutation(s) in the SOD1 gene, encoding superoxide dismutase." C165258 Cellosaurus Disease Terminology C168752 "Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia" "Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia" "An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the TARDBP gene, encoding TAR DNA-binding protein 43." C165258 Cellosaurus Disease Terminology C168753 Amyotrophic Lateral Sclerosis 11 Amyotrophic Lateral Sclerosis 11 "An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase." C165258 Cellosaurus Disease Terminology C168754 "Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia" "Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia" "A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the VCP gene, encoding transitional endoplasmic reticulum ATPase." C165258 Cellosaurus Disease Terminology C168755 Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 21 "An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the MATR3 gene, encoding matrin-3." C165258 Cellosaurus Disease Terminology C178411 Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 23 "An autosomal dominant subtype of amyotrophic lateral sclerosis caused by mutation(s) in the ANXA11 gene, encoding annexin A11." C165258 Cellosaurus Disease Terminology C189922 Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis 25 "An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the KIF5A gene, encoding kinesin heavy chain isoform 5A." C165258 Cellosaurus Disease Terminology C168750 "Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia" "Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia" "A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the FUS gene, encoding RNA-binding protein FUS." C165258 Cellosaurus Disease Terminology C168751 Amyotrophic Lateral Sclerosis 8 Amyotrophic Lateral Sclerosis 8 "An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the VAPB gene, encoding vesicle-associated membrane protein-associated protein B/C." C165258 Cellosaurus Disease Terminology C96549 Anal Canal Neuroendocrine Carcinoma Anal Canal Neuroendocrine Carcinoma Anal Canal High Grade Neuroendocrine Carcinoma || Anal Canal NEC || Anal Canal NEC G3 || Anal High Grade Neuroendocrine Carcinoma || Anal NEC || Anal NEC G3 || Anal Neuroendocrine Carcinoma "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the anal canal. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." C165258 Cellosaurus Disease Terminology C9161 Anal Squamous Cell Carcinoma Anal Squamous Cell Carcinoma Epidermoid Anal Carcinoma || Epidermoid Carcinoma of Anus || Epidermoid Carcinoma of the Anus || Squamous Cell Anal Carcinoma || Squamous Cell Carcinoma of Anus || Squamous Cell Carcinoma of the Anus "A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." C165258 Cellosaurus Disease Terminology C124851 Analbuminemia Analbuminemia "A rare, autosomal recessive inherited disorder characterized by the absence or severe reduction of circulating human serum albumin." C165258 Cellosaurus Disease Terminology C9477 Anaplastic Astrocytoma Anaplastic Astrocytoma Grade 3 Astrocytic Neoplasm || Grade 3 Astrocytic Tumor || Grade 3 Astrocytoma || Grade III Astrocytic Neoplasm || Grade III Astrocytic Tumor || Grade III Astrocytoma || High Grade Astrocytoma || High-Grade Astrocytoma || Malignant Astrocytoma "A diffusely infiltrating, WHO grade 3 astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)" C165258 Cellosaurus Disease Terminology C3720 Anaplastic Large Cell Lymphoma Anaplastic Large Cell Lymphoma CD30 Positive Anaplastic Large Cell Lymphoma "A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C37194 "Anaplastic Large Cell Lymphoma, ALK-Negative" "Anaplastic Large Cell Lymphoma, ALK-Negative" ALK-Negative Anaplastic Large Cell Lymphoma "A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein." C165258 Cellosaurus Disease Terminology C37193 "Anaplastic Large Cell Lymphoma, ALK-Positive" "Anaplastic Large Cell Lymphoma, ALK-Positive" ALK-Positive Anaplastic Large Cell Lymphoma || ALKoma "A T-cell peripheral lymphoma composed of usually large, pleomorphic, CD30 positive T-lymphocytes with abundant cytoplasm characterized by the presence of a translocation involving the ALK gene and expression of ALK fusion protein. Most patients present with peripheral and/or abdominal lymphadenopathy, and often have advanced disease and extranodal involvement." C165258 Cellosaurus Disease Terminology C6959 Anaplastic Oligoastrocytoma Anaplastic Oligoastrocytoma Anaplastic Mixed Glioma || WHO Grade 3 Mixed Glioma || WHO Grade III Mixed Glioma "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." C165258 Cellosaurus Disease Terminology C4326 Anaplastic Oligodendroglioma Anaplastic Oligodendroglioma "Malignant Oligodendroglioma || Oligodendroglioma, Malignant || Undifferentiated Oligodendroglioma || WHO Grade 3 Oligodendroglial Neoplasm || WHO Grade 3 Oligodendroglial Tumor || WHO Grade III Oligodendroglial Neoplasm || WHO Grade III Oligodendroglial Tumor" "A WHO grade 3 oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." C165258 Cellosaurus Disease Terminology C27226 Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome Androgen Resistance Syndrome || Testicular Feminization Syndrome "A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics." C165258 Cellosaurus Disease Terminology C2869 Anemia Anemia "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." C165258 Cellosaurus Disease Terminology C84560 Anencephaly Anencephaly "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." C165258 Cellosaurus Disease Terminology C133885 Anetoderma Anetoderma A dermatologic condition characterized by focal loss of elastic tissue. Clinically it presents with atrophic depressions or saccular outpouchings of the skin. C165258 Cellosaurus Disease Terminology C75462 Angelman Syndrome Angelman Syndrome "A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene." C165258 Cellosaurus Disease Terminology C3088 Angiosarcoma Angiosarcoma "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." C165258 Cellosaurus Disease Terminology C34639 Angle Closure Glaucoma Angle Closure Glaucoma Closed Angle Glaucoma || Narrow Angle Glaucoma || Primary Angle Closure Glaucoma "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity." C165258 Cellosaurus Disease Terminology C84562 Anhidrotic Ectodermal Dysplasia 1 Anhidrotic Ectodermal Dysplasia 1 A rare genetic disorder characterized by mutations in the gene encoding ectodysplasin A. It results in abnormalities in the morphogenesis of the structures originating from the ectoderm. C165258 Cellosaurus Disease Terminology C84563 Aniridia Aniridia A rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye. C165258 Cellosaurus Disease Terminology C157576 Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate "An autosomal dominant condition caused by mutation(s) in the TP63 gene, encoding tumor protein 63. It is characterized by congenital ectodermal dysplasia, ankyloblepharon filiforme adnatum, and cleft lip/palate." C165258 Cellosaurus Disease Terminology C84564 Ankylosing Spondylitis Ankylosing Spondylitis An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. C165258 Cellosaurus Disease Terminology C34387 Anorexia Nervosa Anorexia Nervosa "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea." C165258 Cellosaurus Disease Terminology C98815 Antithrombin III Deficiency Antithrombin III Deficiency "A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism." C165258 Cellosaurus Disease Terminology C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis "An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis." C165258 Cellosaurus Disease Terminology C2878 Anxiety Disorder Anxiety Disorder A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. C165258 Cellosaurus Disease Terminology C50461 Aortic Dissection Aortic Dissection "A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media." C165258 Cellosaurus Disease Terminology C50462 Aortic Valve Stenosis Aortic Valve Stenosis Aortic Valve Stenosis Narrowing of the orifice of the aortic valve. C165258 Cellosaurus Disease Terminology C2870 Aplastic Anemia Aplastic Anemia "Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors." C165258 Cellosaurus Disease Terminology C99081 Arakawa Syndrome II Arakawa Syndrome II "Arakawa's Syndrome 2 || Arakawa's Syndrome II || Homocystinuria-Megaloblastic Anemia, cblG Complementation Type || Methylcobalamin Deficiency, cblG Type || Tetrahydrofolate Methyltransferase Deficiency" "A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly." C165258 Cellosaurus Disease Terminology C84568 Argininemia Argininemia Hyperargininemia "A rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme arginase resulting in accumulation of arginine and urea in the blood and cerebrospinal fluid. Signs and symptoms include developmental delays, spasticity, ataxia, seizures and mental retardation." C165258 Cellosaurus Disease Terminology C84569 Argininosuccinic Aciduria Argininosuccinic Aciduria Argininosuccinate Lyase Deficiency "A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation." C165258 Cellosaurus Disease Terminology C84570 Arnold-Chiari Malformation Arnold-Chiari Malformation A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. C165258 Cellosaurus Disease Terminology C142085 Aromatic L-Amino-Acid Decarboxylase Deficiency Aromatic L-Amino-Acid Decarboxylase Deficiency AADC Deficiency "An autosomal recessive condition caused by mutation(s) in the DDC gene, encoding aromatic-L-amino-acid decarboxylase. It is characterized by combined serotonin and catecholamine deficiency, resulting in severe neurologic dysfunction usually beginning in infancy or childhood." C165258 Cellosaurus Disease Terminology C178417 Arrhythmia-Induced Cardiomyopathy Arrhythmia-Induced Cardiomyopathy "A reversible cardiomyopathy presumed to result from the presence of arrhythmias, including the tachycardia-induced cardiomyopathy (T-CM), atrial fibrillation-induced cardiomyopathy (AF-CM), and premature ventricular contraction-induced cardiomyopathy (PVC-CM)." C165258 Cellosaurus Disease Terminology C84571 Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic RVD || Arrhythmogenic Right Ventricular Cardiomyopathy || Right Ventricular Dysplasia A rare genetic disorder characterized by cardiomyopathy affecting the right ventricle. The heart tissue is replaced by fibrous and adipose tissues. It is characterized by ventricular arrhythmia and right ventricular dysfunction. It is a cause of sudden death. C165258 Cellosaurus Disease Terminology C99704 Arterial Dissection Arterial Dissection A tear within the wall of the artery. C165258 Cellosaurus Disease Terminology C36192 Arteriovenous Fistula Arteriovenous Fistula AV Fistula || Pathologic AV Fistula An unintended connection between an artery and vein. C165258 Cellosaurus Disease Terminology C2882 Arteriovenous Hemangioma/Malformation Arteriovenous Malformation/Hemangioma Arteriovenous Angioma || Arteriovenous Hemangioma || Arteriovenous Hemangioma/Malformation || Arteriovenous Malformation || Racemose Angioma || Racemose Hemangioma A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. C165258 Cellosaurus Disease Terminology C84572 Arthrogryposis Arthrogryposis "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth." C165258 Cellosaurus Disease Terminology C7542 Askin Tumor Askin Tumor Askin's Tumor || PNET of Thoracopulmonary Region || Peripheral Neuroectodermal Tumor of Thoracopulmonary Region || Small Cell Tumor of Thoracopulmonary Region "A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." C165258 Cellosaurus Disease Terminology C168586 Asparagine Synthetase Deficiency Asparagine Synthetase Deficiency ASNSD "An autosomal recessive condition caused by mutation(s) in the ASNS gene, encoding asparagine synthetase. It is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, seizures, and cortical atrophy." C165258 Cellosaurus Disease Terminology C61273 Aspartylglycosaminuria Aspartylglycosaminuria Aspartylglucosaminuria A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood. C165258 Cellosaurus Disease Terminology C97147 Associated Pulmonary Arterial Hypertension Associated Pulmonary Arterial Hypertension "Pulmonary hypertension that results from another disorder (e.g., connective tissue disorder)." C165258 Cellosaurus Disease Terminology C129638 Astatine-211 Alpha Radiation Astatine-211 Alpha Radiation Alpha rays produced by the decay of astatine-211. C165258 Cellosaurus Disease Terminology C28397 Asthma Asthma A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways. C165258 Cellosaurus Disease Terminology C60781 Astrocytoma Astrocytoma "A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma." C165258 Cellosaurus Disease Terminology C129271 "Astrocytoma, IDH-Mutant, Grade 2" "Astrocytoma, IDH-Mutant, Grade 2" "Astrocytoma, IDH-Mutant, Grade II || Diffuse Astrocytoma, IDH-Mutant" IDH-mutant astrocytoma characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. C165258 Cellosaurus Disease Terminology C2887 Ataxia Telangiectasia Syndrome Ataxia Telangiectasia Syndrome Ataxia Telangiectasia || Louis-Bar Syndrome Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage. C165258 Cellosaurus Disease Terminology C155996 Ataxia with Isolated Vitamin E Deficiency Ataxia with Isolated Vitamin E Deficiency "An autosomal recessive condition caused by mutation(s) in the TTPA gene, encoding alpha-tocopherol transfer protein. It is characterized by spinocerebellar ataxia and extremely low concentrations of vitamin E." C165258 Cellosaurus Disease Terminology C173401 Ataxia-Oculomotor Apraxia Type 1 Ataxia-Oculomotor Apraxia Type 1 "Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia" "An autosomal recessive cerebellar ataxia caused by mutation(s) in the APTX gene, encoding aprataxin. It is characterized by peripheral axonal neuropathy, oculomotor apraxia, and hypoalbuminemia." C165258 Cellosaurus Disease Terminology C173403 Ataxia-Oculomotor Apraxia Type 3 Ataxia-Oculomotor Apraxia Type 3 "An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs." C165258 Cellosaurus Disease Terminology C176909 Ataxia-Pancytopenia Syndrome Ataxia-Pancytopenia Syndrome ATXPC "An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia." C165258 Cellosaurus Disease Terminology C132224 Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia." C165258 Cellosaurus Disease Terminology C125693 Atransferrinemia Atransferrinemia Congenital Atransferrinemia || Familial Hypotransferrinemia || Hereditary Atransferrinemia An extremely rare iron overload disorder caused by mutation in the structural gene for transferrin (TF gene). It is characterized by hypochromic microcytic anemia and hemosiderosis. C165258 Cellosaurus Disease Terminology C50466 Atrial Fibrillation Atrial Fibrillation "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" C165258 Cellosaurus Disease Terminology C101029 Atrioventricular Septal Defect Atrioventricular Septal Defect AV Septal Defect || Common AV Canal || Common Atrioventricular Canal || Endocardial Cushion Defect A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves. C165258 Cellosaurus Disease Terminology C97160 Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder Attention Deficit-Hyperactivity Disorder "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." C165258 Cellosaurus Disease Terminology C5665 Atypical Adenomatous Lung Hyperplasia Atypical Adenomatous Lung Hyperplasia Atypical Adenomatous Hyperplasia of Lung || Atypical Adenomatous Hyperplasia of the Lung || Atypical Alveolar Hyperplasia || Bronchioloalveolar Cell Adenoma "A preinvasive lesion in the lung. It is characterized by the presence of a small, localized proliferation of mildly to moderately atypical type II pneumocytes and/or Clara cells lining alveolar walls and sometimes respiratory bronchioles." C165258 Cellosaurus Disease Terminology C3519 "Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative" "Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative" Atypical CML || Atypical Chronic Myeloid Leukemia || Subacute Myeloid Leukemia "A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C176902 Atypical Hemolytic Uremic Syndrome-4 Atypical Hemolytic Uremic Syndrome-4 "An autosomal dominant subtype of atypical hemolytic uremic syndrome caused by mutation(s) in the CFB gene, encoding complement factor B." C165258 Cellosaurus Disease Terminology C6906 Atypical Teratoid/Rhabdoid Tumor Atypical Teratoid/Rhabdoid Tumor Atypical Teratoid/Rhabdoid Tumor (WHO Grade 4) || Atypical Teratoid/Rhabdoid Tumor (WHO Grade IV) || CNS Rhabdoid Neoplasm || CNS Rhabdoid Tumor || Central Nervous System Rhabdoid Neoplasm || Central Nervous System Rhabdoid Tumor || Malignant Brain Rhabdoid Neoplasm || Malignant Brain Rhabdoid Tumor || Malignant Rhabdoid Neoplasm of Brain || Malignant Rhabdoid Neoplasm of the Brain || Malignant Rhabdoid Tumor of Brain || Malignant Rhabdoid Tumor of the Brain || Primary Malignant Brain Rhabdoid Neoplasm || Primary Malignant Brain Rhabdoid Tumor || Primary Malignant Rhabdoid Neoplasm of Brain || Primary Malignant Rhabdoid Neoplasm of the Brain || Primary Malignant Rhabdoid Tumor of Brain || Primary Malignant Rhabdoid Tumor of the Brain || Rhabdoid Neoplasm of CNS || Rhabdoid Neoplasm of Central Nervous System || Rhabdoid Neoplasm of the CNS || Rhabdoid Neoplasm of the Central Nervous System || Rhabdoid Tumor of CNS || Rhabdoid Tumor of Central Nervous System || Rhabdoid Tumor of the CNS || Rhabdoid Tumor of the Central Nervous System "An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia." C165258 Cellosaurus Disease Terminology C116364 Auditory Neuropathy Spectrum Disorder Auditory Neuropathy Spectrum Disorder Auditory Neuropathy "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception." C165258 Cellosaurus Disease Terminology C88412 Autism Spectrum Disorder Autism Spectrum Disorder "A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors." C165258 Cellosaurus Disease Terminology C174441 "Autoinflammation, Panniculitis, and Dermatosis Syndrome" "Autoinflammation, Panniculitis, and Dermatosis Syndrome" Otulin-Related Autoinflammatory Syndrome || Otulipenia "An autosomal recessive condition caused by mutation(s) in the OTULIN gene, encoding ubiquitin thioesterase otulin. It is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy." C165258 Cellosaurus Disease Terminology C175240 Autosomal Dominant Congenital Deafness with Onychodystrophy Autosomal Dominant Congenital Deafness with Onychodystrophy Autosomal Dominant Deafness-onychodystrophy Syndrome || DDOD Syndrome "An autosomal dominant condition caused by mutation(s) in the ATP6V1B2 gene, encoding V-type proton ATPase subunit B, brain isoform. It is characterized by congenital deafness and onychodystrophy." C165258 Cellosaurus Disease Terminology C141441 Autosomal Dominant Lateral Temporal Lobe Epilepsy Autosomal Dominant Lateral Temporal Lobe Epilepsy "Epilepsy, Familial Temporal Lobe 1" "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations." C165258 Cellosaurus Disease Terminology C129736 Autosomal Dominant Neurohypophyseal Diabetes Insipidus Autosomal Dominant Neurohypophyseal Diabetes Insipidus An autosomal dominant form of diabetes insipidus caused by mutation(s) in the AVP gene encoding arginine vasopressin. C165258 Cellosaurus Disease Terminology C84577 Autosomal Dominant Optic Atrophy Autosomal Dominant Optic Atrophy An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. C165258 Cellosaurus Disease Terminology C84578 Autosomal Dominant Polycystic Kidney Disease Autosomal Dominant Polycystic Kidney Disease "Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts." C165258 Cellosaurus Disease Terminology C118786 Autosomal Dominant Popliteal Pterygium Syndrome Autosomal Dominant Popliteal Pterygium Syndrome "A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora." C165258 Cellosaurus Disease Terminology C118780 Autosomal Dominant Torsion Dystonia 1 Autosomal Dominant Torsion Dystonia 1 DYT1 "An autosomal dominant inherited disorder caused by mutations in the TOR1A gene. It usually begins in childhood or adolescence and is characterized by involuntary muscle contractions in the arms, legs, trunk, and neck." C165258 Cellosaurus Disease Terminology C132827 Autosomal Recessive Congenital Ichthyosis 2 Autosomal Recessive Congenital Ichthyosis 2 ARCI2 "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin." C165258 Cellosaurus Disease Terminology C154314 Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I Chronic Granulomatous Disease due to Deficiency of NCF-1 "An autosomal recessive form of chronic granulomatous disease caused by mutation(s) in the NCF1 gene, encoding neutrophil cytosol factor 1." C165258 Cellosaurus Disease Terminology C181000 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y "Muscular Dystrophy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures || TOR1AIP1-Related LGMD || TOR1AIP1-Related Limb-Girdle Muscular Dystrophy" "An autosomal recessive subtype of limb-girdle muscular dystrophy caused by mutation(s) in the TOR1AIP1 gene, encoding torsin-1A-interacting protein 1." C165258 Cellosaurus Disease Terminology C180849 Autosomal Recessive Limb-Girdle Muscular Dystrophy-4 Autosomal Recessive Limb-Girdle Muscular Dystrophy-4 Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 || Limb-Girdle Muscular Dystrophy Type 2E "An autosomal recessive subtype of limb-girdle muscular dystrophy caused by mutation(s) in the SGCB gene, encoding beta-sarcoglycan." C165258 Cellosaurus Disease Terminology C129733 Autosomal Recessive Osteopetrosis Autosomal Recessive Osteopetrosis "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." C165258 Cellosaurus Disease Terminology C167215 Autosomal Recessive Osteopetrosis 1 Autosomal Recessive Osteopetrosis 1 Autosomal Recessive Albers-Schonberg Disease || Autosomal Recessive Marble Bones || Autosomal Recessive Osteopetrosis Type 1 || Infantile Malignant Osteopetrosis 1 "A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the TCIRG1 gene on chromosome 11q13, encoding the osteoclast-specific (alpha 3) subunit of the vacuolar proton pump. It is characterized by macrocephaly, frontal bossing, nystagmus, optic atrophy, blindness, deafness, and facial palsy." C165258 Cellosaurus Disease Terminology C150556 Autosomal Recessive Osteopetrosis 8 Autosomal Recessive Osteopetrosis 8 "A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the SNX10 gene, encoding sorting nexin-10." C165258 Cellosaurus Disease Terminology C84579 Autosomal Recessive Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. C165258 Cellosaurus Disease Terminology C154614 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Spastic Ataxia 6 "An autosomal recessive condition caused by mutation(s) in the SACS gene, encoding sacsin. It is characterized by early onset cerebellar ataxia, pyramidal tract signs and peripheral neuropathy." C165258 Cellosaurus Disease Terminology C177252 Autosomal Recessive Spastic Ataxia-2 Autosomal Recessive Spastic Ataxia-2 Autosomal Spastic Paraplegia Type 58 "An autosomal recessive condition caused by mutation(s) in the KIF1C gene, encoding kinesin-like protein KIF1C. It is characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs." C165258 Cellosaurus Disease Terminology C123415 Autosomal Recessive Torsion Dystonia 2 Autosomal Recessive Torsion Dystonia 2 DYT2 || Dystonia Musculorum Deformans 2 "An autosomal recessive inherited disorder caused by mutation in the HPCA gene. It begins in childhood or adolescence and is characterized by involuntary, sustained muscle contractions and torsions affecting initially distal limbs and later the neck, orofacial, and craniocervical regions." C165258 Cellosaurus Disease Terminology C80076 Azoospermia Azoospermia Aspermia Complete absence of spermatozoa in the semen. C165258 Cellosaurus Disease Terminology C8644 B Acute Lymphoblastic Leukemia B Acute Lymphoblastic Leukemia B Cell Precursor Type Acute Leukemia || B-Acute Lymphoblastic Leukemia || B-Cell ALL || B-Cell Acute Lymphoblastic Leukemia || B-Cell Lymphoblastic Leukemia || B-Cell Precursor Type Acute Leukemia || B-Cell Type Acute Leukemia || Precursor B-Lymphoblastic Leukemia "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C80347 B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3::PBX1 || B-Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) || B-Cell Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults. C165258 Cellosaurus Disease Terminology C36312 B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 "Acute Lymphoblastic Leukemia, Philadelphia Chromosome Positive || B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR::ABL1 || B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 || B-Cell Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 || Philadelphia Positive Acute Lymphoblastic Leukemia || Philadelphia Positive Precursor Lymphoblastic Leukemia" A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome. C165258 Cellosaurus Disease Terminology C80342 B Acute Lymphoblastic Leukemia with t(v;11q23.3); MLL Rearranged B Acute Lymphoblastic Leukemia with t(v;11q23.3); MLL Rearranged B Acute Lymphoblastic Leukemia with t(v;11q23.3); KMT2A Rearranged || B-Acute Lymphoblastic Leukemia with t(v;11q23); MLL Rearranged || B-Cell Acute Lymphoblastic Leukemia with t(v;11q23); MLL Rearranged A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner resulting in the production of an MLL related fusion protein. It is the most commonly seen leukemia in the pediatric population under the age of one year. The prognosis is unfavorable. C165258 Cellosaurus Disease Terminology C80334 B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6::RUNX1 || B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) || B-Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) "A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome." C165258 Cellosaurus Disease Terminology C27907 B-Cell Neoplasm B-Cell Neoplasm "A lymphoproliferative disorder composed of neoplastic B-cells. It includes B-cell non-Hodgkin lymphomas, B-cell leukemias, plasma cell neoplasms, and B-cell proliferations of uncertain malignant potential." C165258 Cellosaurus Disease Terminology C3457 B-Cell Non-Hodgkin Lymphoma B-Cell Non-Hodgkin Lymphoma B-Cell Non Hodgkin's Lymphoma || B-Cell Non-Hodgkin's Lymphoma || Lymphomas Non-Hodgkin's B-Cell || Non-Hodgkin's B-Cell Lymphoma || Non-Hodgkin's Lymphoma B-Cell "The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma." C165258 Cellosaurus Disease Terminology C4753 B-Cell Prolymphocytic Leukemia B-Cell Prolymphocytic Leukemia B Prolymphocytic Leukemia "A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C36100 BRCA1 Syndrome BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome BRCA1 Syndrome || Early Onset Breast Ovarian Cancer Syndrome "An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 gene. Patients are at high risk of developing breast cancer, ovarian cancer, and other cancers including cervical, endometrial, fallopian tube, and colon cancer." C165258 Cellosaurus Disease Terminology C36101 BRCA2 Syndrome BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome BRCA2 Syndrome || Site Specific Early Onset Breast Cancer Syndrome "An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA2 gene. Patients are at high risk of developing female and male breast cancer, ovarian cancer, and other cancers including prostatic cancer, pancreatic cancer, gastric cancer, and melanoma." C165258 Cellosaurus Disease Terminology C134766 Baboon Lymphoma Baboon Lymphoma Lymphoma that occurs in a baboon. C165258 Cellosaurus Disease Terminology C3939 Bannayan Syndrome Bannayan-Riley-Ruvalcaba Syndrome Bannayan Syndrome || Bannayan-Zonana Syndrome || Macrocephaly with Multiple Lipomas and Hemangiomas A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas. C165258 Cellosaurus Disease Terminology C118632 Bardet-Biedl Syndrome Bardet-Biedl Syndrome "An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills." C165258 Cellosaurus Disease Terminology C171267 Bare Lymphocyte Syndrome Type 1 Bare Lymphocyte Syndrome Type 1 Immunodeficiency by Defective Expression of MHC Class I A group of conditions characterized by lack of expression of major histocompatibility complex (MHC) class I proteins. C165258 Cellosaurus Disease Terminology C171268 Bare Lymphocyte Syndrome Type 2 Bare Lymphocyte Syndrome Type 2 Immunodeficiency by Defective Expression of MHC Class II A group of conditions characterized by lack of expression of major histocompatibility complex (MHC) class II proteins. C165258 Cellosaurus Disease Terminology C7027 Barrett Adenocarcinoma Barrett Adenocarcinoma Adenocarcinoma Arising in Barrett's Mucosa || Barrett's Adenocarcinoma "An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas." C165258 Cellosaurus Disease Terminology C2891 Barrett Esophagus Barrett Esophagus Barrett's Esophagus || Columnar Epithelial-Lined Lower Esophagus || Columnar-Lined Esophagus Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) C165258 Cellosaurus Disease Terminology C84585 Barth Syndrome Barth Syndrome 3-Methylglutaconic Aciduria Type 2 "A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria." C165258 Cellosaurus Disease Terminology C168990 Bartsocas-Papas Syndrome Bartsocas-Papas Syndrome Autosomal Recessive Popliteal Pterygium Syndrome "An autosomal recessive condition caused by mutation(s) in the RIPK4 gene, encoding receptor-interacting serine/threonine-protein kinase 4. It is characterized by popliteal pterygia, ankyloblepharon, cleft lip/palate, and syndactyly. Early lethality is common." C165258 Cellosaurus Disease Terminology C178412 "Bartter Syndrome, Type 1" "Bartter Syndrome, Type 1" "Hyperprostaglandin E Syndrome 1 || Hypokalemic Alkalosis with Hypercalciuria 1, Antenatal || Type 1 Bartter Syndrome" "An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria." C165258 Cellosaurus Disease Terminology C134955 Bat Skin Tumor Bat Skin Tumor A skin tumor that occurs in a bat. C165258 Cellosaurus Disease Terminology C123813 Beare-Stevenson Cutis Gyrata Syndrome Beare-Stevenson Cutis Gyrata Syndrome "A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and a skin abnormality called cutis gyrata. The craniosynostosis results in a cloverleaf-shaped skull, wide-set eyes, ear abnormalities, underdeveloped upper jaw, and developmental delays. Cutis gyrata is characterized by a wrinkled skin appearance, especially on the face, near the ears, and on the palms and soles." C165258 Cellosaurus Disease Terminology C84587 Becker's Muscular Dystrophy Becker's Muscular Dystrophy An X-linked inherited disorder characterized by slowly progressing weakness in the muscles of the legs and pelvis. C165258 Cellosaurus Disease Terminology C34415 Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome "A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, rhabdomyosarcoma) and adrenal cortex carcinomas." C165258 Cellosaurus Disease Terminology C34416 Behcet Syndrome Behcet Syndrome Behcet's Syndrome || Behçet Syndrome "A rare chronic inflammatory disorder of unknown etiology. It is characterized by the development of ulcers in the mouth and genital region and uveitis. Other signs and symptoms include arthritis, deep vein thrombosis and superficial thrombophlebitis." C165258 Cellosaurus Disease Terminology C177251 Behr Syndrome Behr Syndrome "An autosomal recessive condition caused by mutation(s) in the OPA1 gene, encoding dynamin-like 120 kDa protein, mitochondrial. It is characterized by optic atrophy and neurological features, which may include ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties." C165258 Cellosaurus Disease Terminology C183308 Benign Familial Infantile Seizures Benign Familial Infantile Seizures Benign Familial Infantile Convulsions || Benign Familial Infantile Epilepsy "A genetically heterogenous afebrile seizure disorder of infancy, typically occurring between the third and eight month of life, that is characterized by brief partial seizures occurring in clusters over a day or several days. Psychomotor and neurologic development before and after seizures are normal." C165258 Cellosaurus Disease Terminology C3739 Benign Fibrous Histiocytoma Fibrous Histiocytoma Benign Fibrous Histiocytoma "A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage." C165258 Cellosaurus Disease Terminology C3630 Benign Parathyroid Gland Neoplasm Benign Parathyroid Gland Neoplasm Benign Neoplasm of Parathyroid || Benign Neoplasm of Parathyroid Gland || Benign Neoplasm of the Parathyroid || Benign Neoplasm of the Parathyroid Gland || Benign Parathyroid Gland Tumor || Benign Parathyroid Neoplasm || Benign Parathyroid Tumor || Benign Tumor of Parathyroid || Benign Tumor of Parathyroid Gland || Benign Tumor of the Parathyroid || Benign Tumor of the Parathyroid Gland || Parathyroid Tumor Benign A benign neoplasm arising from the parathyroid glands. C165258 Cellosaurus Disease Terminology C2897 Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia Benign Hyperplasia of Prostate || Benign Hyperplasia of the Prostate || Benign Prostate Hyperplasia || Benign Prostatic Hyperplasia - BPH || Benign Prostatic Hypertrophy "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow." C165258 Cellosaurus Disease Terminology C3829 Benign Synovial Neoplasm Benign Synovial Neoplasm Benign Neoplasm of Synovium || Benign Neoplasm of the Synovium || Benign Synovial Tumor || Benign Synovioma || Benign Tumor of Synovium || Benign Tumor of the Synovium A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath. C165258 Cellosaurus Disease Terminology C84595 Bernard-Soulier Syndrome Bernard-Soulier Syndrome "A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the presence of giant platelets." C165258 Cellosaurus Disease Terminology C34375 Beta Thalassemia Beta Thalassemia An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features. C165258 Cellosaurus Disease Terminology C126688 Bethlem Myopathy 1 Bethlem Myopathy 1 BTHLM1 "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." C165258 Cellosaurus Disease Terminology C128803 Bicuspid Aortic Valve Bicuspid Aortic Valve "A congenital anomaly in which the aortic valve has two leaflets. It is associated with mutations in the NOTCH1 gene or the SMAD6 gene, encoding neurogenic locus notch homolog protein 1 and mothers against decapentaplegic homolog 6, respectively. It is a clinically heterogeneous condition, with a high incidence of aortic valve and ascending aortic complications requiring surgery." C165258 Cellosaurus Disease Terminology C179299 Bietti Crystalline Corneoretinal Dystrophy Bietti Crystalline Corneoretinal Dystrophy "An autosomal recessive condition caused by mutation (s) in the CYP4V2 gene, encoding cytochrome P450 4V2. It is characterized by multiple glistening intraretinal crystalline deposits scattered throughout the posterior pole associated with progressive atrophy of the retinal pigment epithelium and choroidal sclerosis. The crystalline deposits are also present in the corneal limbus in some individuals." C165258 Cellosaurus Disease Terminology C148367 Bilateral Frontoparietal Polymicrogyria Bilateral Frontoparietal Polymicrogyria "An autosomal recessive condition caused by mutation(s) in the ADGRG1 gene, encoding adhesion G-protein coupled receptor G1. It is characterized by motor and cognitive developmental delay, pyramidal signs, and seizures." C165258 Cellosaurus Disease Terminology C101268 Bilateral Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia A congenital abnormality characterized by the underdevelopment of both optic nerves. C165258 Cellosaurus Disease Terminology C27813 Bile Duct Adenocarcinoma Bile Duct Adenocarcinoma An adenocarcinoma arising from the intrahepatic or extrahepatic bile ducts. C165258 Cellosaurus Disease Terminology C34421 Biliary Atresia Biliary Atresia Congenital Biliary Atresia A congenital disorder characterized by blockage or absence of the intrahepatic or extrahepatic bile ducts. C165258 Cellosaurus Disease Terminology C84598 Biotinidase Deficiency Biotinidase Deficiency "A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia." C165258 Cellosaurus Disease Terminology C4279 Biphasic Synovial Sarcoma Biphasic Synovial Sarcoma Biphasic Sarcoma of Synovium || Biphasic Sarcoma of the Synovium A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component. C165258 Cellosaurus Disease Terminology C34423 Bipolar Disorder Bipolar Disorder Manic Depressive Disorder || Manic-Depression "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression." C165258 Cellosaurus Disease Terminology C28244 Birt-Hogg-Dube Syndrome Birt-Hogg-Dube Syndrome "A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may also be affected by the growth of benign or malignant neoplasms." C165258 Cellosaurus Disease Terminology C4912 Bladder Carcinoma Bladder Carcinoma Bladder Cancer || Cancer of Bladder || Cancer of Urinary Bladder || Cancer of the Bladder || Cancer of the Urinary Bladder || Carcinoma of Bladder || Carcinoma of Urinary Bladder || Carcinoma of the Bladder || Carcinoma of the Urinary Bladder || Urinary Bladder Cancer || Urinary Bladder Carcinoma "A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas." C165258 Cellosaurus Disease Terminology C4031 Bladder Squamous Cell Carcinoma Bladder Squamous Cell Carcinoma Bladder Epidermoid Carcinoma || Epidermoid Carcinoma of Bladder || Epidermoid Carcinoma of Urinary Bladder || Epidermoid Carcinoma of the Bladder || Epidermoid Carcinoma of the Urinary Bladder || Squamous Cell Carcinoma of Bladder || Squamous Cell Carcinoma of Urinary Bladder || Squamous Cell Carcinoma of the Bladder || Squamous Cell Carcinoma of the Urinary Bladder || Urinary Bladder Epidermoid Carcinoma || Urinary Bladder Squamous Cell Carcinoma "A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." C165258 Cellosaurus Disease Terminology C39851 Bladder Urothelial Carcinoma Bladder Urothelial Carcinoma Bladder Transitional Cell Carcinoma || Transitional Cell Carcinoma of the Urinary Bladder || Urinary Bladder Transitional Cell Carcinoma || Urinary Bladder Urothelial Carcinoma || Urothelial Carcinoma of the Urinary Bladder The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival. C165258 Cellosaurus Disease Terminology C9110 "Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive" "Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive" "Blast Phase CML || Blast Phase Chronic Granulocytic Leukemia || Blast Phase Chronic Myelocytic Leukemia || Blast Phase Chronic Myelogenous Leukemia || Blast Phase Chronic Myelogenous Leukemia, BCR::ABL1 Positive || Blast Phase Chronic Myeloid Leukemia || Blastic Phase CML || Blastic Phase Chronic Granulocytic Leukemia || Blastic Phase Chronic Myelocytic Leukemia || Blastic Phase Chronic Myelogenous Leukemia || Blastic Phase Chronic Myeloid Leukemia" "An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." C165258 Cellosaurus Disease Terminology C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm Blastic Plasmacytoid Dendritic Cell Neoplasm Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor || CD4+/CD56+ Hematodermic Neoplasm "A clinically aggressive neoplasm derived from the precursors of plasmacytoid dendritic cells (also called professional type I interferon-producing cells or plasmacytoid monocytes), with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. (WHO 2017)" C165258 Cellosaurus Disease Terminology C116794 Blau Syndrome Blau Syndrome Pediatric Granulomatous Arthritis "An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis." C165258 Cellosaurus Disease Terminology C142084 "Bleeding Disorder, Platelet-Type 17" "Bleeding Disorder, Platelet-Type 17" "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." C165258 Cellosaurus Disease Terminology C2903 Bloom Syndrome Bloom Syndrome Congenital Telangiectatic Erythema Syndrome "Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells. (Oncogene 2001 Dec 13;20(57):8276-80)" C165258 Cellosaurus Disease Terminology C6604 Bone Fibrosarcoma Bone Fibrosarcoma Fibrosarcoma of Bone || Fibrosarcoma of the Bone A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. C165258 Cellosaurus Disease Terminology C7154 Bone Leiomyosarcoma Bone Leiomyosarcoma Leiomyosarcoma of Bone "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells." C165258 Cellosaurus Disease Terminology C5226 Borderline Ovarian Serous Tumor Borderline Ovarian Serous Tumor Borderline Ovarian Serous Neoplasm || Borderline Serous Neoplasm of Ovary || Borderline Serous Neoplasm of the Ovary || Borderline Serous Tumor of Ovary || Borderline Serous Tumor of the Ovary || Ovarian Serous Neoplasm of Low Malignant Potential || Ovarian Serous Tumor of Low Malignant Potential || Proliferating Ovarian Serous Neoplasm || Proliferating Ovarian Serous Tumor || Proliferating Serous Neoplasm of Ovary || Proliferating Serous Neoplasm of the Ovary || Proliferating Serous Tumor of Ovary || Proliferating Serous Tumor of the Ovary || Serous Neoplasm of Ovary with Low Malignant Potential || Serous Neoplasm of the Ovary with Low Malignant Potential || Serous Ovarian Neoplasm of Low Malignant Potential || Serous Ovarian Tumor of Low Malignant Potential || Serous Tumor of Ovary with Low Malignant Potential || Serous Tumor of the Ovary with Low Malignant Potential A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion. C165258 Cellosaurus Disease Terminology C131470 Bovine Congenital Erythropoietic Porphyria Bovine Congenital Erythropoietic Porphyria "A congenital metabolic disorder characterized by a deficiency in the enzyme uroporphyrinogen III synthase, which occurs in cattle." C165258 Cellosaurus Disease Terminology C131469 Bovine Leukemia Bovine Leukemia "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle" C165258 Cellosaurus Disease Terminology C134767 Bovine Lymphosarcoma Bovine Lymphosarcoma Lymphosarcoma that occurs in a cow. C165258 Cellosaurus Disease Terminology C131472 Bovine Protoporphyria Bovine Protoporphyria "A congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle." C165258 Cellosaurus Disease Terminology C134768 Bovine Rectal Myxoma Bovine Rectal Myxoma A myxoma that occurs in the rectum of a cow. C165258 Cellosaurus Disease Terminology C133085 Brachial Amyotrophic Diplegia Brachial Amyotrophic Diplegia Flail Arm Syndrome || Man-in-barrel Syndrome A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction. C165258 Cellosaurus Disease Terminology C2907 Brain Neoplasm Brain Neoplasm Brain Neoplasms || Brain Tumor || Neoplasm of Brain || Neoplasm of the Brain || Tumor of Brain || Tumor of the Brain A benign or malignant neoplasm that arises from or metastasizes to the brain. C165258 Cellosaurus Disease Terminology C5214 Breast Adenocarcinoma Breast Adenocarcinoma Adenocarcinoma of Breast || Adenocarcinoma of the Breast || Mammary adenocarcinoma "The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ." C165258 Cellosaurus Disease Terminology C4872 Breast Carcinoma Breast Carcinoma Breast Cancer || Cancer of Breast || Cancer of the Breast || Carcinoma of Breast || Carcinoma of the Breast || Mammary Carcinoma "A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla." C165258 Cellosaurus Disease Terminology C4017 Breast Ductal Carcinoma Breast Ductal Carcinoma Duct Adenocarcinoma || Duct Carcinoma || Ductal Adenocarcinoma || Ductal Breast Carcinoma || Ductal Carcinoma || Ductal Carcinoma of Breast || Ductal Carcinoma of the Breast "A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive breast carcinoma of no special type. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist." C165258 Cellosaurus Disease Terminology C4001 Breast Inflammatory Carcinoma Breast Inflammatory Carcinoma Inflammatory Breast Cancer || Inflammatory Breast Carcinoma || Inflammatory Carcinoma of Breast || Inflammatory Carcinoma of the Breast || Mastitis Carcinomatosa "An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma." C165258 Cellosaurus Disease Terminology C40395 Breast Malignant Myoepithelioma Breast Malignant Myoepithelioma Breast Myoepithelial Carcinoma || Malignant Breast Myoepithelioma "An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported." C165258 Cellosaurus Disease Terminology C9119 Breast Medullary Carcinoma Breast Medullary Carcinoma Infiltrating Medullary Carcinoma of Breast || Infiltrating Medullary Carcinoma of the Breast || Invasive Medullary Breast Carcinoma || Invasive Medullary Carcinoma of Breast || Invasive Medullary Carcinoma of the Breast || Medullary Breast Carcinoma || Medullary Breast Carcinoma with Lymphoid Stroma || Medullary Carcinoma of Breast || Medullary Carcinoma of the Breast "An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent." C165258 Cellosaurus Disease Terminology C5164 Breast Metaplastic Carcinoma Breast Metaplastic Carcinoma Metaplastic Breast Carcinoma || Metaplastic Carcinoma of Breast || Metaplastic Carcinoma of the Breast "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." C165258 Cellosaurus Disease Terminology C5169 Breast Neuroendocrine Neoplasm Breast Neuroendocrine Neoplasm Breast Endocrine Neoplasm || Neuroendocrine Neoplasm of Breast || Neuroendocrine Neoplasm of the Breast A neoplasm that arises from the breast and is composed of cells exhibiting neuroendocrine differentiation. It is classified as neuroendocrine carcinoma or neuroendocrine tumor G1 and neuroendocrine tumor G2. Most cases are neuroendocrine carcinomas. Primary neuroendocrine tumors in the breast are very rare. C165258 Cellosaurus Disease Terminology C5161 Breast Pleomorphic Carcinoma Breast Pleomorphic Carcinoma Anaplastic Breast Carcinoma || Pleomorphic Breast Carcinoma "A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." C165258 Cellosaurus Disease Terminology C7362 Breast Scirrhous Carcinoma Breast Scirrhous Carcinoma Infiltrating Carcinoma of Breast with Fibrotic Stroma || Infiltrating Carcinoma of the Breast with Fibrotic Stroma || Scirrhous Breast Carcinoma || Scirrhous Carcinoma of Breast || Scirrhous Carcinoma of the Breast An infiltrating ductal breast carcinoma associated with stromal fibrosis. C165258 Cellosaurus Disease Terminology C40359 "Breast Squamous Cell Carcinoma, Acantholytic Variant" "Breast Squamous Cell Carcinoma, Acantholytic Variant" "Squamous Cell Breast Carcinoma, Acantholytic Variant" A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern. C165258 Cellosaurus Disease Terminology C35875 Bronchogenic Carcinoma Bronchogenic Carcinoma Bronchial Carcinoma || Bronchiogenic Carcinoma || Bronchogenic Lung Carcinoma A lung carcinoma arising from the bronchial epithelium. C165258 Cellosaurus Disease Terminology C133724 Brown-Vialetto-Van Laere Syndrome 1 Brown-Vialetto-Van Laere Syndrome 1 "Bulbar Palsy, Progressive, with Sensorineural Deafness" "An autosomal recessive neurologic condition caused by mutation(s) in the SLC52A3 gene, encoding solute carrier family 52, riboflavin transporter, member 3. It is characterized by sensorineural hearing loss and varying cranial nerve palsies, usually affecting the motor components of the seventh and ninth to twelfth cranial nerves. Spinal motor nerves are often affected. Mutations in SLC52A3 may result in Faxio-Lone disease, which is a similar condition, but sensorineural deafness is not present." C165258 Cellosaurus Disease Terminology C183529 Brown-Vialetto-Van Laere Syndrome 2 Brown-Vialetto-Van Laere Syndrome 2 "A rare autosomal recessive condition caused by mutation(s) in the SLC52A2 gene, encoding solute carrier family 52, riboflavin transporter, member 2. It is characterized by progressive pontobulbar palsy associated with sensorineural deafness, which may include respiratory compromise." C165258 Cellosaurus Disease Terminology C142891 Brugada Syndrome Brugada Syndrome "Right Bundle Branch Block, ST Segment Elevation, and Sudden Death Syndrome" A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death. C165258 Cellosaurus Disease Terminology C73511 Bruxism Bruxism Excessive clenching of the jaw and grinding of the teeth. C165258 Cellosaurus Disease Terminology C4040 Buccal Mucosa Squamous Cell Carcinoma Buccal Mucosa Squamous Cell Carcinoma SCC of Buccal Mucosa || SCC of the Buccal Mucosa || Squamous Cell Carcinoma of Buccal Mucosa || Squamous Cell Carcinoma of the Buccal Mucosa A squamous cell carcinoma of the oral cavity that arises from the buccal mucosa. C165258 Cellosaurus Disease Terminology C134943 Budgerigar Fibrosarcoma Budgerigar Fibrosarcoma Fibrosarcoma that occurs in a budgerigar. C165258 Cellosaurus Disease Terminology C135003 Budgerigar Testicular Carcinoma Budgerigar Testicular Carcinoma Carcinoma that arises in the testicle of a budgerigar. C165258 Cellosaurus Disease Terminology C2912 Burkitt Lymphoma Burkitt Lymphoma Burkitt's Lymphoma "A highly aggressive lymphoma composed of monomorphic medium-sized B-cells with basophilic cytoplasm and numerous mitotic figures. It is often associated with the presence of Epstein-Barr virus (EBV) and is commonly seen in AIDS patients. Three morphologic variants are recognized: classical Burkitt lymphoma, Burkitt lymphoma with plasmacytoid differentiation, and atypical Burkitt/Burkitt-like lymphoma. All cases express the MYC translocation [t(8;14)]. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C98863 Butyryl-CoA Dehydrogenase Deficiency Butyryl-CoA Dehydrogenase Deficiency 2-Methylbutyryl-CoA Dehydrogenase Deficiency "A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma." C165258 Cellosaurus Disease Terminology C84606 CADASIL Syndrome CADASIL Syndrome "A hereditary cerebrovascular disorder caused by mutations in the Notch 3 gene. It is characterized by alterations of the muscular wall of the small vessels in the brain, resulting in transient ischemic attacks. It may lead to cognitive problems and dementia." C165258 Cellosaurus Disease Terminology C159655 CALFAN Syndrome CALFAN Syndrome "Cholestasis, Acute Liver Failure, and Neurodegeneration" "A condition caused by biallelic mutation(s) in the SCYL1 gene, encoding N-terminal kinase-like protein. It is characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure." C165258 Cellosaurus Disease Terminology C168591 CD70 Deficiency CD70 Deficiency "A rare primary immunodeficiency caused by homozygous CD70 mutation. It is characterized by susceptibility to Epstein-Barr virus infection, hypogammaglobulinemia, and development of B-cell non-Hodgkin lymphomas and Hodgkin lymphomas." C165258 Cellosaurus Disease Terminology C75100 CHARGE Syndrome CHARGE Syndrome "A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities." C165258 Cellosaurus Disease Terminology C176588 CHEK2-Associated Li-Fraumeni Syndrome CHEK2-Associated Li-Fraumeni-Like Syndrome "Li-Fraumeni Syndrome 2 || Li-Fraumeni Syndrome, CHEK2-Associated || Li-Fraumeni-Like Syndrome" "An autosomal dominant cancer predisposition syndrome caused by germline mutations of the CHEK2 gene. It is associated with breast carcinoma, gastric carcinoma, colorectal carcinoma, thyroid gland carcinoma, kidney carcinoma, prostate carcinoma, and non-Hodgkin lymphoma." C165258 Cellosaurus Disease Terminology C165663 CIC-DUX4 Sarcoma CIC-DUX4 Sarcoma CIC::DUX4 Sarcoma "An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4 gene on chromosome 4. The translocation results in CIC-DUX4, t(4;19)(q35;q13) fusions." C165258 Cellosaurus Disease Terminology C84609 Campomelic Dysplasia Campomelic Dysplasia A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects. C165258 Cellosaurus Disease Terminology C84611 Canavan Disease Canavan Disease "A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head." C165258 Cellosaurus Disease Terminology C134956 Canine Acanthomatous Epulis Canine Acanthomatous Epulis A tumor arising from odontogenic epithelium and occurs in a dog. C165258 Cellosaurus Disease Terminology C186279 Canine Cutaneous T-Cell Lymphoma Canine Cutaneous T-Cell Lymphoma Cutaneous T-cell lymphoma occurring in a dog. C165258 Cellosaurus Disease Terminology C129034 Canine GM1-Gangliosidosis Canine GM1-Gangliosidosis "GM1-gangliosidosis that occurs in dogs, caused by mutation(s) in the GLB1 gene, encoding beta-galactosidase." C165258 Cellosaurus Disease Terminology C158783 Canine Gastrointestinal Stromal Tumor Canine Gastrointestinal Stromal Tumor A gastrointestinal stromal tumor occurring in a dog. C165258 Cellosaurus Disease Terminology C129297 Canine Glioma Canine Glioma A brain or spinal cord tumor arising from glial cells that occurs in dogs. C165258 Cellosaurus Disease Terminology C133088 Canine Globoid Cell Leukodystrophy Canine Globoid Cell Leukodystrophy Globoid cell leukodystrophy that occurs in a dog. C165258 Cellosaurus Disease Terminology C158784 Canine Granular Cell Tumor Canine Granular Cell Tumor A granular cell tumor occurring in a dog. C165258 Cellosaurus Disease Terminology C122783 Canine Hemangiosarcoma Canine Hemangiosarcoma "Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause." C165258 Cellosaurus Disease Terminology C129298 Canine Hepatocellular Carcinoma Canine Hepatocellular Carcinoma A malignant tumor arising from hepatocytes that occurs in dogs. C165258 Cellosaurus Disease Terminology C128125 Canine Histiocytic Sarcoma Canine Histiocytic Sarcoma "A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." C165258 Cellosaurus Disease Terminology C158785 Canine Langerhans Cell Histiocytosis Canine Langerhans Cell Histiocytosis Langerhans cell histiocytosis occurring in a dog. C165258 Cellosaurus Disease Terminology C128120 Canine Leukemia Canine Leukemia "An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood." C165258 Cellosaurus Disease Terminology C129299 Canine Lung Adenocarcinoma Canine Lung Adenocarcinoma A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells. C165258 Cellosaurus Disease Terminology C128121 Canine Lymphoma Canine Lymphoma "A malignant lymphoproliferative disorder that affects dogs. It is characterized by the clonal proliferation of B- or T-lymphocytes in the lymph nodes, bone marrow, and/or extranodal sites." C165258 Cellosaurus Disease Terminology C147073 Canine Mammary Adenoma Canine Mammary Adenoma An adenoma arising from the mammary gland of a dog. C165258 Cellosaurus Disease Terminology C124249 Canine Mammary Carcinoma Canine Mammary Carcinoma Mammary carcinoma occurring in a dog. C165258 Cellosaurus Disease Terminology C129077 Canine Mastocytoma Canine Mastocytoma A tumor composed of mast cells that occurs in dogs. C165258 Cellosaurus Disease Terminology C120298 Canine Melanoma Canine Melanoma Melanoma occurring in a dog. It is the most common malignant tumor found in the mouths of dogs and also occurs frequently on the digits. All canine melanomas are locally invasive and malignant canine melanomas show a high rate of metastasis. Melanoma in dogs has been established as a relevant model for human melanoma. C165258 Cellosaurus Disease Terminology C134526 Canine Neoplasm Canine Neoplasm A neoplasm that occurs in dogs. C165258 Cellosaurus Disease Terminology C158786 Canine Nephroblastoma Canine Nephroblastoma A nephroblastoma occurring in a dog. C165258 Cellosaurus Disease Terminology C185639 Canine Oral Melanoma Canine Oral Melanoma A melanoma that affects the lip and/or oral cavity of a dog. C165258 Cellosaurus Disease Terminology C132823 Canine Oral Squamous Cell Carcinoma Canine Oral Squamous Cell Carcinoma Oral squamous cell carcinoma that occurs in a dog. C165258 Cellosaurus Disease Terminology C120045 Canine Osteosarcoma Canine Osteosarcoma Dog Osteosarcoma "An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas." C165258 Cellosaurus Disease Terminology C134944 Canine Pancreatic Carcinoma Canine Pancreatic Carcinoma Pancreatic carcinoma that occurs in a dog. C165258 Cellosaurus Disease Terminology C128122 Canine Prostate Carcinoma Canine Prostate Carcinoma A malignant epithelial neoplasm arising from the prostate gland of a dog. C165258 Cellosaurus Disease Terminology C129300 Canine Rhabdomyosarcoma Canine Rhabdomyosarcoma A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs. C165258 Cellosaurus Disease Terminology C128195 Canine Sarcoma Canine Sarcoma "A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels." C165258 Cellosaurus Disease Terminology C176701 Canine Sebaceous Gland Epithelioma Canine Sebaceous Gland Epithelioma Sebaceous epithelioma occurring in a dog. C165258 Cellosaurus Disease Terminology C132276 Canine Soft Tissue Sarcoma Canine Soft Tissue Sarcoma Soft tissue sarcoma occurring in a dog. C165258 Cellosaurus Disease Terminology C132275 Canine Thyroid Adenocarcinoma Canine Thyroid Adenocarcinoma Adeonocarcinoma of the thyroid gland occurring in a dog. C165258 Cellosaurus Disease Terminology C161006 Canine Thyroid Gland Medullary Carcinoma Canine Thyroid Gland Medullary Carcinoma Thyroid gland medullary carcinoma occurring in a dog. C165258 Cellosaurus Disease Terminology C128126 Canine Transitional Cell Carcinoma Canine Transitional Cell Carcinoma "A malignant neoplasm that affects dogs, arising from transitional epithelium." C165258 Cellosaurus Disease Terminology C162473 Canine Transmissible Venereal Tumor Canine Transmissible Venereal Tumor A sexually transmitted tumor arising from histiocytes and occurring in dogs. C165258 Cellosaurus Disease Terminology C184988 Canine X-Linked Muscular Dystrophy Canine X-Linked Muscular Dystrophy X-linked muscular dystrophy occurring in a dog. C165258 Cellosaurus Disease Terminology C84612 Carbamoyl-Phosphate Synthetase I Deficiency Carbamoyl-Phosphate Synthetase I Deficiency Carbamoyl Phosphate Synthetase Deficiency "A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability." C165258 Cellosaurus Disease Terminology C132290 Carbonic Anhydrase I Deficiency Carbonic Anhydrase I Deficiency "Decreased or absent activity of the enzyme carbonic anhydrase 1, due to loss-of-function mutation(s) in the gene CA1." C165258 Cellosaurus Disease Terminology C132196 Carboxypeptidase N Deficiency Carboxypeptidase N Deficiency "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity." C165258 Cellosaurus Disease Terminology C21732 Carcinoma of the Mouse Prostate Gland Carcinoma of the Mouse Prostate Gland C165258 Cellosaurus Disease Terminology C23140 Carcinoma of the Mouse Salivary Glands Carcinoma of the Mouse Salivary Glands C165258 Cellosaurus Disease Terminology C64111 Carcinoma of the Rat Kidney Carcinoma of the Rat Kidney Rat Renal Carcinoma C165258 Cellosaurus Disease Terminology C64112 Carcinoma of the Rat Lung Carcinoma of the Rat Lung Rat Lung Carcinoma C165258 Cellosaurus Disease Terminology C64039 Carcinosarcoma of the Rat Mammary Gland Carcinosarcoma of the Rat Mammary Gland C165258 Cellosaurus Disease Terminology C179868 "Cardiac, Facial, and Digital Anomalies with Developmental Delay" "Cardiac, Facial, and Digital Anomalies with Developmental Delay" TRAF7 Syndrome "An autosomal dominant condition caused by mutation(s) in the TRAF7 gene, encoding E3 ubiquitin-protein ligase TRAF7. It is characterized by developmental delay, cardiac, facial, and digital anomalies." C165258 Cellosaurus Disease Terminology C84617 Cardiofaciocutaneous Syndrome Cardiofaciocutaneous Syndrome Cardiofaciocutaneous (CFC) Syndrome "A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay." C165258 Cellosaurus Disease Terminology C34830 Cardiomyopathy Cardiomyopathy "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." C165258 Cellosaurus Disease Terminology C188216 Cardiospondylocarpofacial Syndrome Cardiospondylocarpofacial Syndrome "An autosomal dominant condition caused by mutation(s) in the MAP3K7 gene, encoding mitogen-activated protein kinase kinase kinase 7. It is characterized by growth retardation, short stature, failure to thrive, cardiac anomalies, and dysmorphic facial features." C165258 Cellosaurus Disease Terminology C4705 Carney Complex Carney Complex "Atrial Myxoma with Lentigines || Carney Syndrome || Carney's Syndrome || Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome || Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome" "An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and melanotic schwannomas." C165258 Cellosaurus Disease Terminology C114766 Carnitine Palmitoyltransferase II Deficiency Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency "A rare, autosomal recessive inherited disorder of long-chain fatty-acid oxidation caused by mutations in the CPT2 gene. The disease includes three main types: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form." C165258 Cellosaurus Disease Terminology C133086 Carnitine-Acylcarnitine Translocase Deficiency Carnitine-Acylcarnitine Translocase Deficiency "An autosomal recessive condition caused by mutation(s) in the SLC25A20 gene, encoding mitochondrial carnitine/acylcarnitine carrier protein. It is characterized by cardiomyopathy, skeletal muscle damage, and liver dysfunction that results from derangement of long-chain fatty acid oxidation." C165258 Cellosaurus Disease Terminology C125661 Carnosinemia Carnosinemia Carnosinase Deficiency A rare autosomal recessive metabolic disorder caused by mutation in CNDP1 gene. It is characterized by deficiency of carnosinase and manifests with severe mental defects and myoclonic seizures. C165258 Cellosaurus Disease Terminology C125662 Carotid Artery Dissection Carotid Artery Dissection "Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke." C165258 Cellosaurus Disease Terminology C34466 Cartilage Development Disorder Cartilage Development Disorder Chondrodystrophy Any dysfunction in the growth of cartilage. C165258 Cellosaurus Disease Terminology C61245 Cartilage Hair Hypoplasia Cartilage Hair Hypoplasia "A rare autosomal recessive inherited disorder caused by mutation in the gene for RNAase RMRP. It is characterized by short-limb dwarfism, presence of fine sparse hair, and T-and B-cell immunodeficiency." C165258 Cellosaurus Disease Terminology C75477 Cat-Eye Syndrome Cat-Eye Syndrome "A rare genetic syndrome caused by abnormalities of chromosome 22. It is characterized by anal atresia with fistula formation, coloboma of the iris, down slanting palpebral fissures, and heart and kidney malformations." C165258 Cellosaurus Disease Terminology C123414 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene. C165258 Cellosaurus Disease Terminology C148368 Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 "An autosomal recessive condition caused by mutation(s) in the CASQ2 gene, encoding calsequestrin-2. It is characterized by a relative resting bradycardia and a slight prolongation of the QTc interval. Polymorphic ventricular tachycardia may be induced with exercise stress testing or isoproterenol infusion." C165258 Cellosaurus Disease Terminology C189278 Catecholaminergic Polymorphic Ventricular Tachycardia Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia Type 3 "An autosomal recessive subtype of catecholaminergic polymorphic ventricular tachycardia caused by mutation(s) in the TECRL gene, encoding trans-2,3-enoyl-CoA reductase-like." C165258 Cellosaurus Disease Terminology C5543 Cecum Adenocarcinoma Cecum Adenocarcinoma Adenocarcinoma of Cecum || Adenocarcinoma of the Cecum || Cecal Adenocarcinoma "An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." C165258 Cellosaurus Disease Terminology C26714 Celiac Disease Celiac Disease Celiac Sprue || Gluten-Induced Enteropathy || Non Tropical Sprue "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." C165258 Cellosaurus Disease Terminology C83010 Central Core Disease Central Core Disease Central Core Myopathy "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." C165258 Cellosaurus Disease Terminology C9301 Central Nervous System Lymphoma Central Nervous System Lymphoma CNS Lymphoma || Malignant Lymphomas of CNS || Malignant Lymphomas of the CNS || Primary CNS Lymphoma || Primary Central Nervous System Lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis. C165258 Cellosaurus Disease Terminology C126689 Centronuclear Myopathy 1 Centronuclear Myopathy 1 CNM1 "A myopathy inherited in an autosomal dominant or recessive pattern, caused by mutations in the DNM2, BIN1, and TTN genes. Microscopically there is central displacement of the nucleus in muscle cells. It is characterized by muscle weakness and atrophy in the skeletal muscles." C165258 Cellosaurus Disease Terminology C5150 Cerebellar Glioblastoma Cerebellar Glioblastoma Glioblastoma of Cerebellum || Glioblastoma of the Cerebellum A glioblastoma that occurs in the cerebellum. C165258 Cellosaurus Disease Terminology C157147 "Cerebral Amyloid Angiopathy, APP-Related" "Cerebral Amyloid Angiopathy, APP-Related" Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch Type "An autosomal dominant form of cerebral amyloid angiopathy caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The deposition of amyloid in cerebral blood vessels wall may lead to degenerative vascular changes that may result in cerebral hemorrhage. Mutation(s) in the APP gene may also cause autosomal dominant Alzheimer disease 1." C165258 Cellosaurus Disease Terminology C84626 Cerebral Cavernous Malformation Cerebral Cavernous Malformation "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." C165258 Cellosaurus Disease Terminology C125665 Cerebral Creatine Deficiency Syndrome 1 Cerebral Creatine Deficiency Syndrome 1 X-Linked Creatine Transporter Deficiency "A rare X-linked inherited disorder. It is caused by mutations in the SLC6A8 gene resulting in the absence of a compound needed to transport creatine into cells. It manifests with intellectual disability, seizures, short stature, and midface hypoplasia." C165258 Cellosaurus Disease Terminology C173468 Cerebral Creatine Deficiency Syndrome 2 Cerebral Creatine Deficiency Syndrome 2 Guanidinoacetate Methyltransferase Deficiency "An autosomal recessive disorder of creatine synthesis caused by mutations(s) in the GAMT gene on chromosome 19p13, encoding guanidinoacetate N-methyltransferase. It is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids." C165258 Cellosaurus Disease Terminology C50485 Cerebral Hemorrhage Cerebral Hemorrhage Intracerebral Hemorrhage || Parenchymatous Hemorrhage Bleeding within the cerebrum. C165258 Cellosaurus Disease Terminology C34460 Cerebral Palsy Cerebral Palsy "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain." C165258 Cellosaurus Disease Terminology C180840 Cerebral Vascular Insufficiency Cerebral Vascular Insufficiency Cerebrovascular Insufficiency || Cerebral Artery Insufficiency "A condition resulting in inadequate blood flow through the blood vessels supplying the brain, due to intrinsic disease of the vasculature." C165258 Cellosaurus Disease Terminology C3817 Cerebrooculofacioskeletal Syndrome Cerebrooculofacioskeletal Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome "A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is caused in some cases by mutations in the Cockayne syndrome group B gene, CSB/ERCC6, or the xeroderma pigmentosum genes: XPD/ERCC2, XPG/ERCC5, XPF/ERCC1, which are all involved in the transcription-coupled nucleotide excision repair pathway of DNA repair. It is currently thought to be part of the spectrum of disorders within Cockayne syndrome. Clinical signs at birth include microcephaly, hypotonia, abnormal reflexes and involuntary eye movements. The clinical prognosis is fatal with survivability beyond 5 years unlikely." C165258 Cellosaurus Disease Terminology C173085 Cerebrooculofacioskeletal Syndrome 1 Cerebrooculofacioskeletal Syndrome 1 "An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." C165258 Cellosaurus Disease Terminology C173104 Cerebrooculofacioskeletal Syndrome 4 Cerebrooculofacioskeletal Syndrome 4 "An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC1 gene, encoding DNA excision repair protein ERCC-1." C165258 Cellosaurus Disease Terminology C84628 Cerebrotendinous Xanthomatosis Cerebrotendinous Xanthomatosis "A rare inherited lipid-storage disorder caused by defects in the CYP27A1 gene. It is characterized by progressive neurologic dysfunction, premature atherosclerosis and development of cataracts." C165258 Cellosaurus Disease Terminology C3390 Cerebrovascular Accident Stroke Cerebrovascular Accident || Stroke Syndrome A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. C165258 Cellosaurus Disease Terminology C129639 Cerium-144 Beta Radiation Cerium-144 Beta Radiation Beta radiation produced by the decay of cerium-144. C165258 Cellosaurus Disease Terminology C4029 Cervical Adenocarcinoma Cervical Adenocarcinoma Adenocarcinoma of Cervix || Adenocarcinoma of Cervix Uteri || Adenocarcinoma of Uterine Cervix || Adenocarcinoma of the Cervix || Adenocarcinoma of the Cervix Uteri || Adenocarcinoma of the Uterine Cervix || Carcinoma of Endocervix || Carcinoma of the Endocervix || Cervix Adenocarcinoma || Cervix Uteri Adenocarcinoma || Endocervical Adenocarcinoma || Endocervical Carcinoma || Uterine Cervix Adenocarcinoma "An adenocarcinoma arising from the endocervical glandular epithelium. It is classified as either human papillomavirus-related or human papillomavirus-independent adenocarcinoma. Histologic variants include usual-type, mucinous, mesonephric, serous, clear cell, and endometrioid adenocarcinoma." C165258 Cellosaurus Disease Terminology C4519 Cervical Adenosquamous Carcinoma Cervical Adenosquamous Carcinoma Adenosquamous Cell Carcinoma of Cervix || Adenosquamous Cell Carcinoma of Cervix Uteri || Adenosquamous Cell Carcinoma of Uterine Cervix || Adenosquamous Cell Carcinoma of the Cervix || Adenosquamous Cell Carcinoma of the Cervix Uteri || Adenosquamous Cell Carcinoma of the Uterine Cervix || Cervical Adenosquamous Cell Carcinoma || Cervix Adenosquamous Cell Carcinoma || Cervix Uteri Adenosquamous Cell Carcinoma || Uterine Cervix Adenosquamous Cell Carcinoma An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells. C165258 Cellosaurus Disease Terminology C40212 "Cervical Adenosquamous Carcinoma, Glassy Cell Variant" Cervical Poorly Differentiated Adenosquamous Carcinoma "Cervical Adenosquamous Carcinoma, Glassy Cell Variant" A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates. C165258 Cellosaurus Disease Terminology C9039 Cervical Carcinoma Cervical Carcinoma Cancer of Cervix || Cancer of Uterine Cervix || Cancer of the Cervix || Cancer of the Uterine Cervix || Carcinoma of Cervix || Carcinoma of Cervix Uteri || Carcinoma of Uterine Cervix || Carcinoma of the Cervix || Carcinoma of the Cervix Uteri || Carcinoma of the Uterine Cervix || Cervical Cancer || Cervix Cancer || Cervix Carcinoma || Cervix Uteri Carcinoma || Uterine Cervix Cancer || Uterine Cervix Carcinoma A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are squamous cell carcinoma and adenocarcinoma. C165258 Cellosaurus Disease Terminology C6344 Cervical Clear Cell Adenocarcinoma "Human Papillomavirus-Independent Cervical Adenocarcinoma, Clear Cell-Type" "Cervical Clear Cell Adenocarcinoma || Cervical Clear Cell Carcinoma || Cervix Clear Cell Adenocarcinoma || Cervix Clear Cell Carcinoma || Cervix Uteri Clear Cell Adenocarcinoma || Cervix Uteri Clear Cell Carcinoma || Clear Cell Adenocarcinoma of Cervix || Clear Cell Adenocarcinoma of Cervix Uteri || Clear Cell Adenocarcinoma of Uterine Cervix || Clear Cell Adenocarcinoma of the Cervix || Clear Cell Adenocarcinoma of the Cervix Uteri || Clear Cell Adenocarcinoma of the Uterine Cervix || Clear Cell Carcinoma of Cervix || Clear Cell Carcinoma of Cervix Uteri || Clear Cell Carcinoma of Uterine Cervix || Clear Cell Carcinoma of the Cervix || Clear Cell Carcinoma of the Cervix Uteri || Clear Cell Carcinoma of the Uterine Cervix || HPV- Independent Cervical Adenocarcinoma, Clear Cell Type || HPV- Independent Cervical Adenocarcinoma, Clear Cell-Type || Human Papillomavirus-Independent Cervical Adenocarcinoma, Clear Cell Type || Uterine Cervix Clear Cell Adenocarcinoma || Uterine Cervix Clear Cell Carcinoma" Cervical adenocarcinoma not associated with human papillomavirus infection and characterized by the presence of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES). C165258 Cellosaurus Disease Terminology C6343 Cervical Endometrioid Adenocarcinoma Cervical Endometrioid Adenocarcinoma Cervical Endometrioid Carcinoma || Cervix Endometrioid Adenocarcinoma || Cervix Endometrioid Carcinoma || Cervix Uteri Endometrioid Adenocarcinoma || Cervix Uteri Endometrioid Carcinoma || Endometrioid Adenocarcinoma of Cervix || Endometrioid Adenocarcinoma of Cervix Uteri || Endometrioid Adenocarcinoma of Uterine Cervix || Endometrioid Adenocarcinoma of the Cervix || Endometrioid Adenocarcinoma of the Cervix Uteri || Endometrioid Adenocarcinoma of the Uterine Cervix || Endometrioid Carcinoma of Cervix || Endometrioid Carcinoma of Cervix Uteri || Endometrioid Carcinoma of Uterine Cervix || Endometrioid Carcinoma of the Cervix || Endometrioid Carcinoma of the Cervix Uteri || Endometrioid Carcinoma of the Uterine Cervix || Uterine Cervix Endometrioid Adenocarcinoma || Uterine Cervix Endometrioid Carcinoma A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. It is not associated with human papillomavirus infection. C165258 Cellosaurus Disease Terminology C3782 Cervical Intraepithelial Neoplasia Cervical Intraepithelial Neoplasia Cervical Dysplasia || Cervix Intraepithelial Neoplasia || Cervix Uteri Intraepithelial Neoplasia || Intraepithelial Neoplasia of Cervix || Intraepithelial Neoplasia of Cervix Uteri || Intraepithelial Neoplasia of Uterine Cervix || Intraepithelial Neoplasia of the Cervix || Intraepithelial Neoplasia of the Cervix Uteri || Intraepithelial Neoplasia of the Uterine Cervix || Uterine Cervix Intraepithelial Neoplasia "Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade." C165258 Cellosaurus Disease Terminology C40187 Cervical Keratinizing Squamous Cell Carcinoma Cervical Keratinizing Squamous Cell Carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. C165258 Cellosaurus Disease Terminology C40239 Cervical Melanoma Cervical Melanoma Melanoma of the Cervix An aggressive malignant tumor of melanocytic origin that arises from the cervix. C165258 Cellosaurus Disease Terminology C40206 "Cervical Mucinous Adenocarcinoma, Minimal Deviation Type" "Human Papillomavirus-Independent Cervical Adenocarcinoma, Gastric-Type" "Cervical Adenoma Malignum || Cervical Mucinous Adenocarcinoma, Gastric Type || Cervical Mucinous Adenocarcinoma, Minimal Deviation Type || Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant || HPV-Independent Cervical Adenocarcinoma, Gastric-Type || Human Papillomavirus-Independent Cervical Adenocarcinoma, Gastric Type" Cervical adenocarcinoma characterized by the presence of gastric differentiation. It is not associated with human papillomavirus infection. C165258 Cellosaurus Disease Terminology C128045 Cervical Neuroendocrine Carcinoma Cervical Neuroendocrine Carcinoma Cervical High Grade Neuroendocrine Neoplasm "A malignant, high grade neuroendocrine neoplasm that arises from the cervix. This category includes small cell and large cell neuroendocrine carcinoma." C165258 Cellosaurus Disease Terminology C7982 Cervical Small Cell Carcinoma Cervical Small Cell Neuroendocrine Carcinoma Cervical Small Cell Carcinoma || Cervix Small Cell Carcinoma || Cervix Uteri Small Cell Carcinoma || Small Cell Carcinoma of Cervix || Small Cell Carcinoma of Cervix Uteri || Small Cell Carcinoma of Uterine Cervix || Small Cell Carcinoma of the Cervix || Small Cell Carcinoma of the Cervix Uteri || Small Cell Carcinoma of the Uterine Cervix || Uterine Cervix Small Cell Carcinoma A small cell neuroendocrine carcinoma arising from the cervix. C165258 Cellosaurus Disease Terminology C180839 "Cervical Squamous Cell Carcinoma, Not Otherwise Specified" "Cervical Squamous Cell Carcinoma, Not Otherwise Specified" "Cervical Squamous Cell Carcinoma, NOS" Cervical squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available. C165258 Cellosaurus Disease Terminology C4392 Cervical Symmetrical Lipomatosis Cervical Symmetrical Lipomatosis Multiple Symmetrical Lipomatosis A neoplastic process characterized by a symmetric poorly circumscribed overgrowth of adipose tissue in the neck. It predominantly affects middle age men of Mediterranean origin. C165258 Cellosaurus Disease Terminology C129643 Cesium-137 Gamma Radiation Cesium-137 Gamma Radiation Gamma rays produced by the decay of cesium-137. C165258 Cellosaurus Disease Terminology C75467 Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Hereditary Motor and Sensory Neuropathy || Hereditary Sensorimotor Neuropathy "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." C165258 Cellosaurus Disease Terminology C75468 Charcot-Marie-Tooth Disease Type 1A Charcot-Marie-Tooth Disease Type 1A "Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination." C165258 Cellosaurus Disease Terminology C118782 Charcot-Marie-Tooth Disease Type 1B Charcot-Marie-Tooth Disease Type 1B Charcot-Marie-Tooth disease caused by mutations in the MPZ gene (mapped to chromosome 1q23.3). It results in sensorineural peripheral neuropathy. C165258 Cellosaurus Disease Terminology C150646 Charcot-Marie-Tooth Disease Type 2A2A Charcot-Marie-Tooth Disease Type 2A2A Charcot-Marie-Tooth Disease Type 2A2 C165258 Cellosaurus Disease Terminology C122659 Charcot-Marie-Tooth Disease Type 2D Charcot-Marie-Tooth Disease Type 2D Charcot-Marie-Tooth disease inherited in an autosomal dominant pattern. It is caused by mutations in the GARS gene. It results in axonal peripheral neuropathy. C165258 Cellosaurus Disease Terminology C134953 Charcot-Marie-Tooth Disease Type 2E Charcot-Marie-Tooth Disease Type 2E "A form of Charcot-Marie-Tooth disease which is inherited in an autosomal dominant manner. It is caused by mutation(s) in the NEFL gene, encoding neurofilament light polypeptide. It results in peripheral axonal neuropathy." C165258 Cellosaurus Disease Terminology C133886 Charcot-Marie-Tooth Disease Type 2K Charcot-Marie-Tooth Disease Type 2K C165258 Cellosaurus Disease Terminology C168974 Charcot-Marie-Tooth Disease Type 2Y Charcot-Marie-Tooth Disease Type 2Y "An autosomal dominant form of Charcot-Marie-Tooth disease caused by mutations in the VCP gene, encoding transitional endoplasmic reticulum ATPase." C165258 Cellosaurus Disease Terminology C190871 Charcot-Marie-Tooth Disease Type 4B3 Charcot-Marie-Tooth Disease Type 4B3 "An autosomal recessive form of Charcot-Marie-Tooth disease caused by mutations in the SBF1 gene, encoding myotubularin-related protein 5." C165258 Cellosaurus Disease Terminology C129864 Charcot-Marie-Tooth Disease Type 4C Charcot-Marie-Tooth Disease Type 4C "An autosomal recessive form of demyelinating Charcot-Marie-Tooth disease caused by mutations in the SH3TC2 gene, encoding SH3 domain and tetratricopeptide repeat-containing protein 2." C165258 Cellosaurus Disease Terminology C134954 Charcot-Marie-Tooth Disease Type 4J Charcot-Marie-Tooth Disease Type 4J "A form of Charcot-Marie-Tooth disease which is inherited in an autosomal recessive manner. It is caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase. It results in peripheral demyelinating motor and sensory neuropathy." C165258 Cellosaurus Disease Terminology C129068 Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 1 "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." C165258 Cellosaurus Disease Terminology C2941 Chediak-Higashi Syndrome Chediak-Higashi Syndrome "A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man." C165258 Cellosaurus Disease Terminology C84630 Cherubism Cherubism Familial Fibrous Dysplasia of the Jaws || Familial Multilocular Cystic Disease of the Jaws "A rare autosomal dominant inherited disorder usually caused by mutations in the SH3BP2 gene. It is characterized by a prominent lower part of the face due to bilateral replacement of the mandibular or maxillary bones by lesions. The lesions contain osteoclast-like cells admixed with spindle-shaped mononuclear stromal cells. With time, the lesions become more fibrotic and less osteoclast-rich." C165258 Cellosaurus Disease Terminology C134556 Chicken Bursal Lymphoma Chicken Bursal Lymphoma A malignant lymphoma that arises in the bursa of Fabricius in a chicken. C165258 Cellosaurus Disease Terminology C134557 Chicken Fibrosarcoma Chicken Fibrosarcoma Fibrosarcoma that occurs in a chicken. C165258 Cellosaurus Disease Terminology C134558 Chicken Hepatoma Chicken Hepatoma Hepatoma that occurs in a chicken. C165258 Cellosaurus Disease Terminology C135004 Chicken Lymphoma Chicken Lymphoma Lymphoma that occurs in a chicken. C165258 Cellosaurus Disease Terminology C134945 Chicken Monocytic Leukemia Chicken Monocytic Leukemia Monocytic leukemia that occurs in a chicken. C165258 Cellosaurus Disease Terminology C135005 Chicken Neoplasm Chicken Neoplasm A neoplasm that occurs in a chicken. C165258 Cellosaurus Disease Terminology C128189 Childhood Absence Epilepsy Childhood Absence Epilepsy "A common generalized epilepsy syndrome occurring in children, characterized by absence seizures of short duration. The cause of the syndrome is presumed to be genetic. Genes which are associated with the condition are GABRB3, GABRG2, GABRA1, CACNA1H, GABRA1, and GABRA5." C165258 Cellosaurus Disease Terminology C3168 Childhood Acute Lymphoblastic Leukemia Childhood Acute Lymphoblastic Leukemia Childhood ALL || Childhood Precursor Lymphoblastic Leukemia || Pediatric ALL || Pediatric Acute Lymphoblastic Leukemia An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. C165258 Cellosaurus Disease Terminology C7972 Childhood Acute Megakaryoblastic Leukemia Childhood Acute Megakaryoblastic Leukemia Childhood Acute M7 Leukemia || Childhood Acute Megakaryocytic Leukemia || Childhood Acute Megakaryocytic Leukemia (M7) || M7 Childhood Acute Megakaryocytic Leukemia || M7 Pediatric Acute Megakaryocytic Leukemia || Pediatric Acute M7 Leukemia || Pediatric Acute Megakaryoblastic Leukemia || Pediatric Acute Megakaryocytic Leukemia An acute megakaryoblastic leukemia occurring in children. C165258 Cellosaurus Disease Terminology C9163 Childhood Acute Monocytic Leukemia Childhood Acute Monocytic Leukemia Childhood Acute Differentiated Monocytic Leukemia (M5b) || Childhood Acute M5b Leukemia || Childhood Acute Monocytic Leukemia with Differentiation || M5b Childhood Acute Differentiated Monocytic Leukemia || M5b Pediatric Acute Differentiated Monocytic Leukemia || Pediatric Acute Differentiated Monocytic Leukemia || Pediatric Acute M5b Leukemia || Pediatric Acute Monocytic Leukemia with Differentiation An acute monocytic leukemia occurring in children. C165258 Cellosaurus Disease Terminology C9160 Childhood Acute Myeloid Leukemia Childhood Acute Myeloid Leukemia Childhood AML || Childhood Acute Myeloblastic Leukemia || Childhood Acute Myelogenous Leukemia || Pediatric AML || Pediatric Acute Myeloblastic Leukemia || Pediatric Acute Myelogenous Leukemia || Pediatric Acute Myeloid Leukemia Acute myeloid leukemia occurring in childhood. C165258 Cellosaurus Disease Terminology C9381 Childhood Acute Myeloid Leukemia with Maturation Childhood Acute Myeloid Leukemia with Maturation Childhood Acute M2 Leukemia || Childhood Acute Myeloblastic Leukemia with Maturation || Childhood Acute Myeloblastic Leukemia with Maturation (M2) || Childhood Acute Myelogenous Leukemia with Maturation || M2 Childhood Acute Myeloblastic Leukemia with Maturation || M2 Childhood Acute Myelogenous Leukemia || M2 Childhood Acute Myelogenous Leukemia with Maturation || M2 Childhood Acute Myeloid Leukemia with Maturation || M2 Pediatric AGL || M2 Pediatric Acute Myeloblastic Leukemia with Maturation || M2 Pediatric Acute Myelogenous Leukemia || M2 Pediatric Acute Myelogenous Leukemia with Maturation || M2 Pediatric Acute Myeloid Leukemia with Maturation || Pediatric Acute M2 Leukemia || Pediatric Acute Myeloblastic Leukemia with Maturation || Pediatric Acute Myelogenous Leukemia with Maturation || Pediatric Acute Myeloid Leukemia with Maturation An acute myeloid leukemia with maturation occurring in children. C165258 Cellosaurus Disease Terminology C9140 Childhood B Acute Lymphoblastic Leukemia Childhood B Acute Lymphoblastic Leukemia B Cell Childhood ALL || B Cell Childhood Acute Lymphoblastic Leukemia || B Cell Pediatric ALL || B Cell Pediatric Acute Lymphoblastic Leukemia || B-Cell Childhood ALL || B-Cell Childhood Acute Lymphoblastic Leukemia || B-Cell Pediatric ALL || B-Cell Pediatric Acute Lymphoblastic Leukemia || Childhood Precursor B-Lymphoblastic Leukemia A B acute lymphoblastic leukemia that occurs during childhood. C165258 Cellosaurus Disease Terminology C68659 Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR::ABL1 || Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 || Childhood B-Cell Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 || Philadelphia Positive Childhood Acute Lymphoblastic Leukemia || Philadelphia Positive Childhood Precursor Lymphoblastic Leukemia A B acute lymphoblastic leukemia that occurs during childhood. It is characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome. C165258 Cellosaurus Disease Terminology C7320 "Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive" "Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive" "Childhood CML || Childhood Chronic Myelogenous Leukemia || Childhood Chronic Myelogenous Leukemia, BCR::ABL1 Positive || Childhood Chronic Myeloid Leukemia" A chronic myelogenous leukemia occurring during childhood. C165258 Cellosaurus Disease Terminology C27576 Childhood Dermatomyositis Childhood Dermatomyositis Juvenile Dermatomyositis "An inflammatory myopathy of childhood resulting in muscle weakness, and associated with a characteristic skin rash." C165258 Cellosaurus Disease Terminology C27372 Childhood Desmoplastic Small Round Cell Tumor Childhood Desmoplastic Small Round Cell Tumor Pediatric Desmoplastic Small Round Cell Tumor A desmoplastic small round cell tumor occurring in children. C165258 Cellosaurus Disease Terminology C115203 "Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-Altered" "Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-Altered" Childhood Ependymoblastoma "An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood." C165258 Cellosaurus Disease Terminology C7955 Childhood Hepatocellular Carcinoma Childhood Hepatocellular Carcinoma Childhood Carcinoma of Liver Cell || Childhood Carcinoma of the Liver Cell || Childhood Hepatoma || Childhood Liver Cell Carcinoma || Pediatric Carcinoma of Liver Cell || Pediatric Carcinoma of the Liver Cell || Pediatric Hepatocellular Carcinoma || Pediatric Hepatoma || Pediatric Liver Cell Carcinoma A hepatocellular carcinoma that occurs during childhood. C165258 Cellosaurus Disease Terminology C114483 Childhood Langerhans Cell Histiocytosis Childhood Langerhans Cell Histiocytosis Langerhans cell histiocytosis that occurs during childhood. C165258 Cellosaurus Disease Terminology C5165 Childhood Lymphoma Childhood Lymphoma Pediatric Lymphoma A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. C165258 Cellosaurus Disease Terminology C114812 Childhood Pineoblastoma Childhood Pineoblastoma A pineoblastoma that occurs during childhood. C165258 Cellosaurus Disease Terminology C7953 Childhood T Acute Lymphoblastic Leukemia Childhood T Acute Lymphoblastic Leukemia Childhood Precursor T-Lymphoblastic Leukemia || Childhood T-Acute Lymphoblastic Leukemia || Childhood T-Cell Acute Lymphoblastic Leukemia || T-Cell Childhood ALL || T-Cell Childhood Acute Lymphoblastic Leukemia || T-Cell Pediatric ALL || T-Cell Pediatric Acute Lymphoblastic Leukemia An acute lymphoblastic leukemia of T-cell origin occurring in children. C165258 Cellosaurus Disease Terminology C7210 Childhood T Lymphoblastic Lymphoma Childhood T Lymphoblastic Lymphoma Childhood Precursor T-Lymphoblastic Lymphoma || Childhood T-Lymphoblastic Lymphoma A T-lymphoblastic lymphoma that occurs during childhood. C165258 Cellosaurus Disease Terminology C172100 Childhood-Onset Epileptic Encephalopathy Childhood-Onset Epileptic Encephalopathy "An autosomal dominant condition caused by mutation(s) in the CHD2 gene, encoding chromodomain-helicase-DNA-binding protein 2. It is characterized by childhood-onset severe seizures and is associated with a poor prognosis." C165258 Cellosaurus Disease Terminology C146897 Chimpanzee Trisomy 22 Chimpanzee Trisomy 22 Chimpanzee Down Syndrome A condition resulting from the presence of an extra copy of chromosome 22 in chimpanzees. The condition is in many respects similar to Trisomy 21 in humans. C165258 Cellosaurus Disease Terminology C4436 Cholangiocarcinoma Cholangiocarcinoma "A carcinoma that arises from the intrahepatic bile ducts, the hepatic ducts, or the common bile duct distal to the insertion of the cystic duct. The vast majority of tumors are adenocarcinomas." C165258 Cellosaurus Disease Terminology C4021 Chondroblastic Osteosarcoma Chondroblastic Osteosarcoma Chondroblastic Osteogenic Sarcoma An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation. C165258 Cellosaurus Disease Terminology C84632 Chondrodysplasia Punctata Chondrodysplasia Punctata "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." C165258 Cellosaurus Disease Terminology C2946 Chondrosarcoma Chondrosarcoma "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." C165258 Cellosaurus Disease Terminology C4715 Choroid Plexus Carcinoma Choroid Plexus Carcinoma Cancer of Choroid Plexus || Cancer of the Choroid Plexus || Carcinoma of Choroid Plexus || Carcinoma of the Choroid Plexus || Choroid Plexus Cancer A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO) C165258 Cellosaurus Disease Terminology C3698 Choroid Plexus Papilloma Choroid Plexus Papilloma Papilloma of Choroid Plexus || Papilloma of the Choroid Plexus "A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)" C165258 Cellosaurus Disease Terminology C34469 Choroideremia Choroideremia Progressive Choroidal Atrophy "A rare, X-linked inherited disorder characterized by choroid atrophy and retinal degeneration. It leads to progressive loss of vision." C165258 Cellosaurus Disease Terminology C4146 Chromophobe Renal Cell Carcinoma Chromophobe Renal Cell Carcinoma "Chromophobe Adenocarcinoma || Chromophobe Carcinoma || Chromophobe Carcinoma of Kidney || Chromophobe Carcinoma of the Kidney || Chromophobe Cell Carcinoma of Kidney || Chromophobe Cell Carcinoma of the Kidney || Renal Cell Carcinoma, Chromophobe Type" "A type of carcinoma that comprises a minority of renal cell carcinomas. It is characterized by loss of chromosomes 1 and Y. Based on the cytoplasmic characteristics of the neoplastic cells, this type of carcinoma is classified as classic (typical) or eosinophilic. It has a much better prognosis than other renal cell carcinomas." C165258 Cellosaurus Disease Terminology C126692 Chromosome 15q11-q13 Duplication Syndrome Chromosome 15q11-q13 Duplication Syndrome "A syndrome caused by duplication of chromosome 15q11-q13. It is characterized by autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems." C165258 Cellosaurus Disease Terminology C120408 Chromosome 16p11.2 Deletion Syndrome Chromosome 16p11.2 Deletion Syndrome "A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders." C165258 Cellosaurus Disease Terminology C129875 Chromosome 16p12.1 Deletion Syndrome Chromosome 16p12.1 Deletion Syndrome "Chromosome 16p12.1 Deletion Syndrome, 520-KB" "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects." C165258 Cellosaurus Disease Terminology C129021 Chromosome 2q37 Deletion Syndrome Chromosome 2q37 Deletion Syndrome Brachydactyly Mental Retardation Syndrome "A syndrome of high phenotypic variability caused by contiguous gene deletions in 2q37. The inheritance is autosomal dominant. The condition may be characterized by brachydactly type E; mental retardation; short stature; and other skeletal, cardiovascular, and neurologic manifestations." C165258 Cellosaurus Disease Terminology C13375 Chromosome Fragile Site Chromosome Fragile Site Fragile Site "Heritable sensitive regions of chromosomes which show up in vitro as non-staining bands. They are associated with chromosome breakage and other aberrations. No abnormal phenotype has been definitely identified with autosomal fragile sites, but some rare autosomal recessive disorders may be due to homozygosity for fragile sites. A fragile site on the X chromosome is associated with Fragile X Syndrome. Fragile sites are designated by the letters ""fra"" followed by the designation for the specific chromosome and locus." C165258 Cellosaurus Disease Terminology C126348 "Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form" "Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form" Chronic Active EBV Infection || Chronic Active Epstein-Barr Virus || Systemic CAEBV of T-and NK-Cell Type || Systemic Chronic Active EBV Infection of T-Cell and NK-Cell Type "An on-going Epstein-Barr virus (EBV) infection characterized by repeated infectious mononucleosis-like symptoms, a very high titer of anti-EBV antibodies, and high levels of Epstein-Barr virus nucleic acids. Patients with CAEBV often develop progressive cellular and humoral immunodeficiency with pancytopenia and hypogammaglobulinemia." C165258 Cellosaurus Disease Terminology C4563 "Chronic Eosinophilic Leukemia, Not Otherwise Specified" "Chronic Eosinophilic Leukemia, Not Otherwise Specified" "Chronic Eosinophilic Leukemia || Chronic Eosinophilic Leukemia, NOS || Eosinophilic Leukemia" "A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of ""idiopathic hypereosinophilic syndrome"" is preferred. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C26788 Chronic Granulomatous Disease Chronic Granulomatous Disease CGD "A rare genetic disorder with a predominantly X-linked recessive pattern of inheritance resulting in impaired phagocytic clearance of bacteria and fungi. It is caused by a defect in the phagocytic NADPH oxidase (phox) complex. The phagocytes can engulf pathogens but are unable to produce the microbicidal precursors needed to destroy them. Clinical signs of severe disease present in childhood with milder forms later in life. They include recurrent infection especially pneumonia, cervical lymphadenopathy and hepatosplenomegaly. The clinical course includes the appearance of granulomata in the skin and gastrointestinal or genitourinary tracts. The clinical prognosis is dependent on effectively treating and preventing infection." C165258 Cellosaurus Disease Terminology C116380 Chronic Infantile Neurological Cutaneous and Articular Syndrome Chronic Infantile Neurological Cutaneous and Articular Syndrome CINCA Syndrome || Neonatal-Onset Multisystem Inflammatory Disease "A congenital autoinflammatory disorder that presents within a few days of birth and is characterized by a clinical triad of skin rash, chronic meningitis, and joint pain with recurrent fever and inflammation." C165258 Cellosaurus Disease Terminology C26966 Chronic Lymphadenitis Chronic Lymphadenitis Inflammation of the lymph nodes that is chronic in nature. C165258 Cellosaurus Disease Terminology C3163 Chronic Lymphocytic Leukemia Chronic Lymphocytic Leukemia B Cell CLL || B Cell Chronic Lymphocytic Leukemia || B Cell Lymphocytic Leukemia || B-Cell CLL || B-Cell Chronic Lymphocytic Leukemia || B-Cell Chronic Lymphoid Leukemia || B-Cell Lymphocytic Leukemia || Chronic B-Cell Lymphocytic Leukemia || Hematopoeitic - Chronic Lymphocytic Leukemia (CLL) "The most common type of chronic lymphoid leukemia. It comprises 90% of chronic lymphoid leukemias in the United States. Morphologically, the neoplastic cells are small, round B-lymphocytes. This type of leukemia is not considered to be curable with available therapy. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C39591 Chronic Lymphoproliferative Disorder of NK-Cells Chronic Lymphoproliferative Disorder of NK-Cells Chronic NK-Cell Lymphocytosis || Chronic NK-LGL Lymphoproliferative Disorder || Chronic NK-Large Granular Lymphocyte Lymphoproliferative Disorder || Indolent Large Granular NK-Cell Lymphoproliferative Disorder || Indolent NK-Cell Lymphoproliferative Disorder || NK-Cell Large Granular Lymphocyte Lymphocytosis || NK-Type Lymphoproliferative Disorder of Granular Lymphocytes An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged. C165258 Cellosaurus Disease Terminology C3174 "Chronic Myelogenous Leukemia, BCR-ABL1 Positive" "Chronic Myelogenous Leukemia, BCR-ABL1 Positive" "BCR-ABL Positive Chronic Myelogenous Leukemia || CML - Chronic Myelogenous Leukemia || Chronic Granulocytic Leukemia || Chronic Myelocytic Leukemia || Chronic Myelogenous Leukemia || Chronic Myelogenous Leukemia, BCR::ABL1 Positive || Chronic Myelogenous Leukemias || Chronic Myeloid Leukemia || Hematopoeitic - Chronic Myelocytic Leukemia (CML)" "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." C165258 Cellosaurus Disease Terminology C3178 Chronic Myelomonocytic Leukemia Chronic Myelomonocytic Leukemia "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." C165258 Cellosaurus Disease Terminology C3179 Chronic Neutrophilic Leukemia Chronic Neutrophilic Leukemia Neutrophilic Leukemia A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene. C165258 Cellosaurus Disease Terminology C3199 Chronic Obstructive Pulmonary Disease Chronic Obstructive Pulmonary Disease Chronic Obstructive Airways Disease || Chronic Obstructive Lung Disease || Chronic Obstructive Pulmonary Disease (COPD) "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." C165258 Cellosaurus Disease Terminology C84637 Chronic Pancreatitis Chronic Pancreatitis "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus." C165258 Cellosaurus Disease Terminology C84638 Ciliary Motility Defect Ciliary Motility Defect Ciliary Motility Disorders "Defective movements of the cilia. It includes abnormal movements of the cilia in the nose and paranasal sinuses, the respiratory tract and spermatozoa." C165258 Cellosaurus Disease Terminology C2951 Cirrhosis Cirrhosis Liver Cirrhosis "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." C165258 Cellosaurus Disease Terminology C150601 Citrullinemia Type I Citrullinemia Type I Argininosuccinate Synthetase Deficiency "An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the ASS1 gene, encoding argininosuccinate synthetase." C165258 Cellosaurus Disease Terminology C150603 Citrullinemia Type II Citrullinemia Type II "An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the SLC25A13 gene, encoding calcium-binding mitochondrial carrier protein Aralar2." C165258 Cellosaurus Disease Terminology C178882 Class 3 Obesity Class 3 Obesity Class III Obesity || Extreme Obesity || Severe Obesity Body mass index (BMI) greater than 40. C165258 Cellosaurus Disease Terminology C54300 Clear Cell Odontogenic Carcinoma Clear Cell Odontogenic Carcinoma Clear Cell Ameloblastoma || Clear Cell Odontogenic Tumor "A usually aggressive malignant neoplasm arising from tooth-forming tissues. It more often affects older females and more frequently occurs in the mandible. It is characterized by the presence of malignant epithelial cells with clear cytoplasm and a fibrotic stroma formation. It may recur and metastasize. Metastases may occur in the lymph nodes, lungs, and bones. Treatment of choice is resection with clean margins." C165258 Cellosaurus Disease Terminology C4033 Clear Cell Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Clear Cell Carcinoma of Kidney || Clear Cell Carcinoma of the Kidney || Conventional (Clear Cell) Renal Cell Carcinoma || Conventional Renal Cell Carcinoma || Kidney Clear Cell Carcinoma || Renal Clear Cell Carcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. C165258 Cellosaurus Disease Terminology C3745 Clear Cell Sarcoma of Soft Tissue Clear Cell Sarcoma of Soft Tissue Clear Cell Sarcoma of Soft Parts A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. C165258 Cellosaurus Disease Terminology C122656 Cleft Lip/Palate-Ectodermal Dysplasia Syndrome Cleft Lip/Palate-Ectodermal Dysplasia Syndrome "A very rare genetic disorder characterized by cleft lip and palate, sparse scalp hair, and partial syndactyly of the fingers and toes." C165258 Cellosaurus Disease Terminology C87069 Cleft Palate Cleft Palate A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development. C165258 Cellosaurus Disease Terminology C75020 Cleidocranial Dysplasia Cleidocranial Dysplasia Cleidocranial Dysostosis "A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature." C165258 Cellosaurus Disease Terminology C5412 Clivus Chordoma Clivus Chordoma Chordoma of Clivus || Chordoma of the Clivus || Clival Chordoma A chordoma that arises from the clivus. C165258 Cellosaurus Disease Terminology C84641 Clubfoot Clubfoot Clubbed Foot "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." C165258 Cellosaurus Disease Terminology C188148 "Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly" "Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly" Familial Clubfoot due to PITX1 Point Mutation "An autosomal dominant condition caused by mutation(s) in the PITX1 gene, encoding pituitary homeobox 1. It is characterized by clubfoot, and may have associated long bone deformity and/or polydactyly." C165258 Cellosaurus Disease Terminology C129640 Cobalt-60 Gamma Radiation Cobalt-60 Gamma Radiation Gamma rays produced by the decay of cobalt-60. C165258 Cellosaurus Disease Terminology C9460 Cockayne Syndrome Cockayne Syndrome "An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function." C165258 Cellosaurus Disease Terminology C135725 Cockayne Syndrome Type A Cockayne Syndrome Type A "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8." C165258 Cellosaurus Disease Terminology C135726 Cockayne Syndrome Type B Cockayne Syndrome Type B "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." C165258 Cellosaurus Disease Terminology C126744 Codas Syndrome Codas Syndrome "A rare syndrome caused by mutations in the LONP1 gene. It is characterized by developmental delay, cerebral, ocular, dental, auricular, and skeletal abnormalities." C165258 Cellosaurus Disease Terminology C142083 Coenzyme Q10 Deficiency Coenzyme Q10 Deficiency "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency." C165258 Cellosaurus Disease Terminology C84643 Coffin-Lowry Syndrome Coffin-Lowry Syndrome "An inherited syndrome caused by mutations in the RPS6KA3 gene. It is characterized by mental retardation, developmental delay, microcephaly, short stature and kyphoscoliosis." C165258 Cellosaurus Disease Terminology C35321 Coffin-Siris Syndrome Coffin-Siris Syndrome "A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory infections, poor feeding, hypotonia, joint laxity and characteristic shortened fifth digits with hypoplastic or absent nails and craniofacial appearance: microcephaly, wide nose and lips, sparse scalp hair but thick eyebrows and eyelashes. The clinical course includes developmental delays in motor skills and speech with associated moderate mental retardation." C165258 Cellosaurus Disease Terminology C6194 Collecting Duct Carcinoma Collecting Duct Carcinoma Carcinoma of Collecting Ducts of Bellini || Carcinoma of Kidney Collecting Duct || Carcinoma of Renal Collecting Duct || Carcinoma of the Kidney Collecting Duct || Carcinoma of the Renal Collecting Duct || Kidney Collecting Duct Carcinoma || Renal Collecting Duct Carcinoma "Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor." C165258 Cellosaurus Disease Terminology C4349 Colon Adenocarcinoma Colon Adenocarcinoma Adenocarcinoma of Colon || Adenocarcinoma of the Colon || Colonic Adenocarcinoma "An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." C165258 Cellosaurus Disease Terminology C4910 Colon Carcinoma Colon Carcinoma Carcinoma of Colon || Carcinoma of the Colon || Colon Cancer || Colonic Carcinoma A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. C165258 Cellosaurus Disease Terminology C7966 Colon Mucinous Adenocarcinoma Colon Mucinous Adenocarcinoma Colloid Adenocarcinoma of Colon || Colloid Adenocarcinoma of the Colon || Colloid Colon Adenocarcinoma || Colloidal Adenocarcinoma of Colon || Colloidal Adenocarcinoma of the Colon || Colloidal Colon Adenocarcinoma || Colon Colloid Adenocarcinoma || Colon Colloidal Adenocarcinoma || Colonic Colloid Adenocarcinoma || Colonic Colloidal Adenocarcinoma || Colonic Mucinous Adenocarcinoma || Mucinous Adenocarcinoma of Colon || Mucinous Adenocarcinoma of the Colon || Mucinous Colon Adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. C165258 Cellosaurus Disease Terminology C7967 Colon Signet Ring Cell Adenocarcinoma Colon Signet Ring Cell Adenocarcinoma Colon Signet-Ring Cell Adenocarcinoma || Colonic Signet Ring Cell Adenocarcinoma || Signet Ring Cell Adenocarcinoma of Colon || Signet Ring Cell Adenocarcinoma of the Colon || Signet Ring Cell Colon Adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells. C165258 Cellosaurus Disease Terminology C6761 Colon Small Cell Neuroendocrine Carcinoma Colon Small Cell Neuroendocrine Carcinoma Colon Small Cell Carcinoma || Colonic Small Cell Carcinoma || Small Cell Carcinoma of Colon || Small Cell Carcinoma of the Colon || Small Cell Colon Carcinoma "An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells." C165258 Cellosaurus Disease Terminology C5105 Colorectal Adenocarcinoma Colorectal Adenocarcinoma Adenocarcinoma of Large Bowel || Adenocarcinoma of Large Intestine || Adenocarcinoma of the Large Bowel || Adenocarcinoma of the Large Intestine || Large Bowel Adenocarcinoma || Large Intestine Adenocarcinoma "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." C165258 Cellosaurus Disease Terminology C5673 Colorectal Adenoma Colorectal Adenoma Adenoma of Large Bowel || Adenoma of Large Intestine || Adenoma of the Large Bowel || Adenoma of the Large Intestine || Large Bowel Adenoma || Large Intestine Adenoma "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." C165258 Cellosaurus Disease Terminology C2955 Colorectal Carcinoma Colorectal Carcinoma Cancer of Large Bowel || Cancer of Large Intestine || Cancer of the Large Bowel || Cancer of the Large Intestine || Carcinoma of Large Bowel || Carcinoma of Large Intestine || Carcinoma of the Large Bowel || Carcinoma of the Large Intestine || Colorectal Cancer || Large Bowel Cancer || Large Bowel Carcinoma || Large Intestine Cancer || Large Intestine Carcinoma A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. C165258 Cellosaurus Disease Terminology C96157 Colorectal Large Cell Neuroendocrine Carcinoma Colorectal Large Cell Neuroendocrine Carcinoma Large Intestinal Large Cell Neuroendocrine Carcinoma "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon or rectum. It is characterized by the presence of malignant large cells." C165258 Cellosaurus Disease Terminology C43585 Colorectal Mucinous Adenocarcinoma Colorectal Mucinous Adenocarcinoma An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion. C165258 Cellosaurus Disease Terminology C96156 Colorectal Neuroendocrine Carcinoma Colorectal Neuroendocrine Carcinoma Colorectal NEC || Colorectal NEC G3 || Large Intestinal Neuroendocrine Carcinoma "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon or rectum. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." C165258 Cellosaurus Disease Terminology C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma Combined Hepatocellular Carcinoma and Cholangiocarcinoma Carcinoma of Liver and Intrahepatic Biliary Tract || Carcinoma of the Liver and Intrahepatic Biliary Tract || Cholangiohepatoma || Hepatocholangiocarcinoma || Liver and Intrahepatic Biliary Tract Carcinoma || Mixed Hepatocellular Cholangiocarcinoma A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor. C165258 Cellosaurus Disease Terminology C126558 Combined Lipase Deficiency Combined Lipase Deficiency A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. C165258 Cellosaurus Disease Terminology C125663 Combined Oxidative Phosphorylation Deficiency 1 Combined Oxidative Phosphorylation Deficiency 1 COXPD1 "A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction." C165258 Cellosaurus Disease Terminology C187986 Combined Oxidative Phosphorylation Deficiency 23 Combined Oxidative Phosphorylation Deficiency 23 "An autosomal recessive condition caused by mutation(s) in the GTPBP3 gene, encoding tRNA modification GTPase GTPBP3, mitochondrial. It is characterized by childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms." C165258 Cellosaurus Disease Terminology C185238 Combined Oxidative Phosphorylation Deficiency 27 Combined Oxidative Phosphorylation Deficiency 27 "An autosomal recessive condition caused by mutation(s) in the CARS2 gene, encoding probable cysteine--tRNA ligase, mitochondrial, resulting in a defect in the mitochondrial oxidative phosphorylation system. It is characterized by epileptic encephalopathy, and phenotypically variable clinical findings." C165258 Cellosaurus Disease Terminology C174440 Combined Oxidative Phosphorylation Deficiency 33 Combined Oxidative Phosphorylation Deficiency 33 "An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable." C165258 Cellosaurus Disease Terminology C180851 Combined Oxidative Phosphorylation Deficiency 8 Combined Oxidative Phosphorylation Deficiency 8 Combined Oxidative Phosphorylation Defect Type 8 "An autosomal recessive condition caused by mutation(s) in the AARS2 gene, encoding alanine--tRNA ligase, mitochondrial. It is characterized by lethal infantile hypertrophic cardiomyopathy. Skeletal and brain involvement may be apparent." C165258 Cellosaurus Disease Terminology C26725 Common Variable Immunodeficiency Common Variable Immunodeficiency Acquired Agammaglobulinemia || Secondary Hypogammaglobulinemia A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development. C165258 Cellosaurus Disease Terminology C120191 Complete androgen insensitivity syndrome Complete Androgen Insensitivity Syndrome "A genetic disorder associate with a mutation in the AR gene, resulting in the complete resistance to androgenic hormones." C165258 Cellosaurus Disease Terminology C189285 Complex Cortical Dysplasia with other Brain Malformations 5 Complex Cortical Dysplasia with other Brain Malformations 5 TUBB2A Tubulinopathy "An autosomal dominant condition caused by mutation(s) in the TUBB2A gene, encoding tubulin beta-2A chain. It is characterized by cortical dysplasia and is associated with impaired intellectual development, hypotonia, global developmental delay, cortical dysplasia, and dysmorphic corpus callosum." C165258 Cellosaurus Disease Terminology C162399 Cone-Rod Dystrophy 2 Cone-Rod Dystrophy 2 "An inherited condition caused by mutations in the CRX gene, encoding cone-rod homeobox protein. It is characterized by loss of visual acuity in early childhood or late adolescence, impaired color vision, loss of peripheral vision, and nyctalopia. The severity of symptoms may vary." C165258 Cellosaurus Disease Terminology C35261 Congenital Adrenal Gland Hypoplasia Congenital Adrenal Gland Hypoplasia Congenital Adrenal Hypoplasia "A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not recognized and treated promptly, it may be lethal." C165258 Cellosaurus Disease Terminology C174439 Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency Disordered Steroidogenesis due to Cytochrome P450 Oxidoreductase Deficiency "A genetic condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is characterized by glucocorticoid deficiency, sexual ambiguity in both boys and girls, and skeletal malformations." C165258 Cellosaurus Disease Terminology C129303 Congenital Bilateral Aplasia of the Vas Deferens Congenital Bilateral Aplasia of the Vas Deferens "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis." C165258 Cellosaurus Disease Terminology C103172 Congenital Bleeding Disorder Congenital Bleeding Disorder "A bleeding disorder that is diagnosed during childhood, with the presenting symptom of excessive bleeding." C165258 Cellosaurus Disease Terminology C98888 Congenital Cataract Congenital Cataract Cataract that is present at birth. C165258 Cellosaurus Disease Terminology C98889 Congenital Central Hypoventilation Congenital Central Hypoventilation Congenital Central Hypoventilation Syndrome A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities. C165258 Cellosaurus Disease Terminology C98890 Congenital Cerebellar Hypoplasia Congenital Cerebellar Hypoplasia "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." C165258 Cellosaurus Disease Terminology C129865 Congenital Contractural Arachnodactyly Congenital Contractural Arachnodactyly "Arthrogryposis, Distal, Type 9 || Beals Syndrome" "An autosomal dominant connective tissue disorder caused by mutation(s) in the FBN2 gene, encoding fibrillin-2. It is characterized by contractures, arachnodactyly, scoliosis, micrognathia, and crumpled ears." C165258 Cellosaurus Disease Terminology C116899 Congenital Cystic Hygroma Congenital Cystic Hygroma Cervicofacial Lymphatic Malformation A congenital lymphatic malformation usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. C165258 Cellosaurus Disease Terminology C126746 Congenital Disorder of Deglycosylation Congenital Disorder of Deglycosylation "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." C165258 Cellosaurus Disease Terminology C126868 Congenital Disorder of Glycosylation Type Ia Congenital Disorder of Glycosylation Type Ia "A congenital disorder of glycosylation sub-type caused by mutation(s) in the PMM2 gene, encoding phosphomannomutase 2." C165258 Cellosaurus Disease Terminology C126869 Congenital Disorder of Glycosylation Type Ic Congenital Disorder of Glycosylation Type Ic "A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG6 gene, encoding dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase." C165258 Cellosaurus Disease Terminology C126870 Congenital Disorder of Glycosylation Type Id Congenital Disorder of Glycosylation Type Id "A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG3 gene, encoding dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase." C165258 Cellosaurus Disease Terminology C126871 Congenital Disorder of Glycosylation Type Ie Congenital Disorder of Glycosylation Type Ie "A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPM1 gene, encoding dolichol-phosphate mannosyltransferase subunit 1." C165258 Cellosaurus Disease Terminology C126872 Congenital Disorder of Glycosylation Type If Congenital Disorder of Glycosylation Type If "A congenital disorder of glycosylation sub-type caused by mutation(s) in the MPDU1 gene, encoding mannose-P-dolichol utilization defect 1 protein." C165258 Cellosaurus Disease Terminology C126873 Congenital Disorder of Glycosylation Type Ig Congenital Disorder of Glycosylation Type Ig "A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG12 gene, dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase." C165258 Cellosaurus Disease Terminology C126874 Congenital Disorder of Glycosylation Type Ij Congenital Disorder of Glycosylation Type Ij "A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPAGT1 gene, encoding UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase." C165258 Cellosaurus Disease Terminology C175991 Congenital Dyserythropoietic Anemia Type II Congenital Dyserythropoietic Anemia Type II Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test || SEC23B-CDG "An autosomal recessive subtype of congenital dyserythropoietic anemia caused by mutation(s) in the SEC23B gene, encoding protein transport protein Sec23B." C165258 Cellosaurus Disease Terminology C157148 Congenital Dyserythropoietic Anemia Type IV Congenital Dyserythropoietic Anemia Type IV "An autosomal dominant sub-type of congenital dyserythropoietic anemia caused by mutation(s) in the KLF1 gene, encoding Krueppel-like factor 1." C165258 Cellosaurus Disease Terminology C27049 Congenital Eyelid Ptosis Congenital Eyelid Ptosis The drooping of the upper or lower eyelid that is present at the time of birth. C165258 Cellosaurus Disease Terminology C120046 Congenital Fiber-Type Disproportion Congenital Fiber-Type Disproportion Congenital Fiber-Type Disproportion Myopathy "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." C165258 Cellosaurus Disease Terminology C95834 Congenital Heart Disease Congenital Heart Disease "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." C165258 Cellosaurus Disease Terminology C97071 Congenital Hepatic Fibrosis Congenital Hepatic Fibrosis "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts." C165258 Cellosaurus Disease Terminology C98876 Congenital Hydrocephalus Congenital Hydrocephalus Hydrocephalus that is present at birth. C165258 Cellosaurus Disease Terminology C102979 Congenital Hydronephrosis Congenital Hydronephrosis Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth. C165258 Cellosaurus Disease Terminology C131425 Congenital Hyperinsulinism Congenital Hyperinsulinism "An etiologically heterogenous condition resulting in dysregulated insulin secretion whose cause is present from birth. It is the most common cause of persistent hypoglycemia in neonates, infants and children." C165258 Cellosaurus Disease Terminology C3944 Congenital Melanocytic Nevus Congenital Melanocytic Nevus Congenital Melanocytic Nevus of Skin || Congenital Melanocytic Nevus of the Skin || Congenital Nevus of Skin || Congenital Nevus of the Skin || Congenital Pigmented Nevus of Skin || Congenital Pigmented Nevus of the Skin || Congenital Pigmented Skin Nevus || Congenital Skin Nevus "A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion." C165258 Cellosaurus Disease Terminology C6569 Congenital Mesoblastic Nephroma Mesoblastic Nephroma Congenital Mesoblastic Nephroma A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. C165258 Cellosaurus Disease Terminology C180842 Congenital Microtia Congenital Microtia A condition in which the external ear is underdeveloped or malformed. C165258 Cellosaurus Disease Terminology C126690 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 MDDGB2 An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan. C165258 Cellosaurus Disease Terminology C84647 Congenital Myasthenic Syndrome Congenital Myasthenic Syndrome "A group of rare genetic neuromuscular disorders characterized by neuromuscular junction defects. The defects are classified as presynaptic, synaptic, or postsynaptic. Signs and symptoms include muscle weakness, easy fatigability, feeding and respiratory difficulties, and scoliosis." C165258 Cellosaurus Disease Terminology C168997 Congenital Myasthenic Syndrome 12 Congenital Myasthenic Syndrome 12 CMS12 "An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the GFPT1 gene, encoding glutamine--fructose-6-phosphate aminotransferase 1." C165258 Cellosaurus Disease Terminology C129304 Congenital Myasthenic Syndrome 5 Congenital Myasthenic Syndrome 5 Endplate Acetylcholinesterase Deficiency "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner." C165258 Cellosaurus Disease Terminology C174216 Congenital Myasthenic Syndrome-4C Congenital Myasthenic Syndrome-4C "Myasthenic Syndrome, Congenital, 4C, Associated with Acetylcholine Receptor Deficiency" "An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the CHRNE gene, encoding acetylcholine receptor subunit epsilon." C165258 Cellosaurus Disease Terminology C35337 Congenital Nephrotic Syndrome Congenital Nephrotic Syndrome A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis. C165258 Cellosaurus Disease Terminology C131427 Congenital Ovarian Failure Congenital Ovarian Failure "Ovarian failure, the cause of which is present at birth." C165258 Cellosaurus Disease Terminology C61236 Congenital Pure Red Cell Aplasia Congenital Pure Red Cell Aplasia Diamond-Blackfan Anemia An inherited condition characterized by aplasia of the erythroid series only. The white cells and platelets are not affected. Patients develop anemia usually in infancy. C165258 Cellosaurus Disease Terminology C128190 Congenital Sucrase-Isomaltase Deficiency Congenital Sucrase-Isomaltase Deficiency Disaccharide Intolerance 1 "An autosomal recessive genetic disorder caused by mutations in the SI gene, encoding sucrase-isomaltase, intestinal. The condition is characterized by malabsorption and osmotic diarrhea." C165258 Cellosaurus Disease Terminology C3080 Congestive Heart Failure Congestive Heart Failure Cardiac Failure Congestive "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." C165258 Cellosaurus Disease Terminology C4550 Conjunctival Melanoma Conjunctival Melanoma Conjunctiva Melanoma || Malignant Conjunctiva Melanoma || Malignant Conjunctival Melanoma || Malignant Melanoma of Conjunctiva || Malignant Melanoma of the Conjunctiva || Melanoma of Conjunctiva || Melanoma of the Conjunctiva A melanoma that arises from the conjunctiva. C165258 Cellosaurus Disease Terminology C4549 Conjunctival Squamous Cell Carcinoma Conjunctival Squamous Cell Carcinoma Conjunctiva Epidermoid Carcinoma || Conjunctiva Squamous Cell Carcinoma || Conjunctival Epidermoid Carcinoma || Epidermoid Carcinoma of Conjunctiva || Epidermoid Carcinoma of the Conjunctiva || Squamous Cell Carcinoma of Conjunctiva || Squamous Cell Carcinoma of the Conjunctiva "A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." C165258 Cellosaurus Disease Terminology C75016 Cornelia De Lange Syndrome Cornelia De Lange Syndrome "A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." C165258 Cellosaurus Disease Terminology C26732 Coronary Artery Disease Coronary Artery Disease Coronary Disease Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) C165258 Cellosaurus Disease Terminology C165530 Coronary Slow Flow Phenomenon Coronary Slow Flow Phenomenon An angiographic finding characterized by delayed progression of contrast medium into distal epicardial vessels in the absence of significant coronary artery disease. C165258 Cellosaurus Disease Terminology C133743 Cortical Dysplasia-Focal Epilepsy Syndrome Cortical Dysplasia-Focal Epilepsy Syndrome CDFE Syndrome "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." C165258 Cellosaurus Disease Terminology C129069 Corticobasal Degeneration Corticobasal Degeneration Cortical Basal Ganglionic Degeneration A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment. C165258 Cellosaurus Disease Terminology C84652 Costello Syndrome Costello Syndrome "A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms." C165258 Cellosaurus Disease Terminology C3076 Cowden Syndrome Cowden Syndrome Cowden Disease || Cowden's Disease || Ruvalcaba-Myhre-Smith Syndrome "An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum." C165258 Cellosaurus Disease Terminology C129305 Cranioectodermal Dysplasia Cranioectodermal Dysplasia Sensenbrenner Syndrome "An autosomal recessive disorder associated with mutation(s) in at least one of four genes (WDR35, IFT122, WDR19, or IFT43). It is characterized by distinctive abnormalities of the face and skull, in association with developmental abnormalities of the structures derived from ectodermal tissues." C165258 Cellosaurus Disease Terminology C84655 Craniosynostosis Craniosynostosis A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull. C165258 Cellosaurus Disease Terminology C34518 Cri du Chat Syndrome Cri du Chat Syndrome 5p Deletion Syndrome || Cat-Cry Syndrome "A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure." C165258 Cellosaurus Disease Terminology C84656 Crigler-Najjar Syndrome Crigler-Najjar Syndrome A rare autosomal recessive inherited syndrome characterized by abnormalities in the metabolism of bilirubin. It results in the development of jaundice. It may cause brain damage in infancy. C165258 Cellosaurus Disease Terminology C173147 Crisponi/Cold-Induced Sweating Syndrome-1 Crisponi/Cold-Induced Sweating Syndrome-1 Cold-Induced Sweating Syndrome 1 || Crisponi Syndrome || Sohar-Crisponi Syndrome "An autosomal recessive condition caused by mutation(s) in the CRLF1 gene, encoding cytokine receptor-like factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy." C165258 Cellosaurus Disease Terminology C173148 Crisponi/Cold-Induced Sweating Syndrome-2 Crisponi/Cold-Induced Sweating Syndrome-2 "An autosomal recessive condition caused by mutation(s) in the CLCF1 gene, encoding cardiotrophin-like cytokine factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy. It is clinically indistinguishable from Crisponi/cold-induced sweating syndrome-1." C165258 Cellosaurus Disease Terminology C2965 Crohn Disease Crohn Disease Crohn's Disease || Regional Enteritis "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement." C165258 Cellosaurus Disease Terminology C128801 Cutaneous Malignant Melanoma 2 Cutaneous Malignant Melanoma 2 "An autosomal dominant genetic disorder caused by mutations in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by cutaneous malignant melanoma associated with this genetic alteration." C165258 Cellosaurus Disease Terminology C7137 Cutaneous Mastocytosis Cutaneous Mastocytosis "A form of mastocytosis characterized by mast cell infiltration of the skin. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C3510 Cutaneous Melanoma Cutaneous Melanoma "Malignant Cutaneous Melanoma || Malignant Melanoma (of Skin), Stage Unspecified || Malignant Melanoma of Skin || Malignant Melanoma of Skin Stage Unspecified || Melanoma of Skin || Melanoma of the Skin || Skin Melanoma || Skin, Melanoma" "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." C165258 Cellosaurus Disease Terminology C128451 Cutaneous Neurofibroma Cutaneous Neurofibroma Dermal Neurofibroma A neurofibroma that grows along small branches of nerves in the dermis in patients with neurofibromatosis. It presents as a solid cutaneous tumor. C165258 Cellosaurus Disease Terminology C84663 Cutis Laxa Cutis Laxa Elastolysis A congenital or acquired disorder affecting the elastic fibers of the skin. It is characterized by loss of elasticity resulting in loosening and folding of the skin. C165258 Cellosaurus Disease Terminology C3820 Cyclic Neutropenia Cyclic Neutropenia "Cyclic Agranulocytosis || Cyclic Hematopoiesis || Dysplasia, Myelocytic Periodic || Periodic Neutropenia" A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. C165258 Cellosaurus Disease Terminology C129070 Cystathioninuria Cystathioninuria "An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased concentrations of cystathionine in the plasma and urine." C165258 Cellosaurus Disease Terminology C2975 Cystic Fibrosis Cystic Fibrosis "A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather secondary to increased sodium and chloride concentration in sweat." C165258 Cellosaurus Disease Terminology C2976 Cystinosis Cystinosis "An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction." C165258 Cellosaurus Disease Terminology C84664 Cystinuria Cystinuria "An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder." C165258 Cellosaurus Disease Terminology C98910 Cytochrome-C Oxidase Deficiency Cytochrome-C Oxidase Deficiency "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." C165258 Cellosaurus Disease Terminology C119676 D-Bifunctional Protein Deficiency D-Bifunctional Protein Deficiency D-Bifunctional Enzyme Deficiency || Multifunctional Enzyme Deficiency || Peroxisomal Multifunctional Enzyme (MFE2) Deficiency || Peroxisomal Multifunctional Enzyme Deficiency || Pseudo-Zellweger Syndrome "A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills." C165258 Cellosaurus Disease Terminology C128804 D-Glyceric Aciduria D-Glyceric Aciduria "An autosomal recessive genetic disorder caused by mutations in the GLYCTK gene, encoding glycerate kinase. The condition is characterized by excretion of D-glyceric acid in the urine. The phenotype varies from mild to severe, and may result in encephalopathy, mental retardation, microcephaly and early death." C165258 Cellosaurus Disease Terminology C122658 DNA Ligase I Deficiency DNA Ligase I Deficiency A very rare genetic syndrome characterized by reduced replicative DNA ligase I. It results in immunodeficiency and cellular hypersensitivity to DNA-damaging agents. C165258 Cellosaurus Disease Terminology C186308 Dactylomegaly Dactylomegaly A condition in which the fingers or toes are abnormally enlarged. C165258 Cellosaurus Disease Terminology C75012 Dandy-Walker Malformation Dandy-Walker Malformation Dandy-Walker Syndrome "A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa." C165258 Cellosaurus Disease Terminology C84665 Darier Disease Darier Disease Keratosis Follicularis "An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears, forehead, chest, back and groin. It is associated with fragility of the free margins of the nails." C165258 Cellosaurus Disease Terminology C84666 De Sanctis-Cacchione Syndrome De Sanctis-Cacchione Syndrome "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities." C165258 Cellosaurus Disease Terminology C27644 Deafness Deafness An inherited or acquired condition characterized by the inability to hear in one or both ears. C165258 Cellosaurus Disease Terminology C174444 "Deafness, Autosomal Dominant 36" "Deafness, Autosomal Dominant 36" "An autosomal dominant condition caused by mutations in the TMC1 gene, encoding transmembrane channel-like protein 1. It is characterized by bilateral progressive hearing loss." C165258 Cellosaurus Disease Terminology C175700 "Deafness, Autosomal Dominant 41" "Deafness, Autosomal Dominant 41" "An autosomal dominant condition caused by mutation(s) in the P2RX2 gene, encoding P2X purinoceptor 2. It is characterized by progressive sensorineural hearing loss, usually in the second decade of life." C165258 Cellosaurus Disease Terminology C129022 "Deafness, Autosomal Recessive 1A" "Deafness, Autosomal Recessive 1A" "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." C165258 Cellosaurus Disease Terminology C129023 "Deafness, Autosomal Recessive 28" "Deafness, Autosomal Recessive 28" "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss." C165258 Cellosaurus Disease Terminology C129874 "Deafness, Autosomal Recessive 39" "Deafness, Autosomal Recessive 39" "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor. It is characterized by profound deafness." C165258 Cellosaurus Disease Terminology C158787 "Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct" "Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct" DFNB4 "An autosomal recessive condition caused by mutation(s) in one of several genes, most often SLC26A4 encoding pendrin. It is characterized by hearing loss and enlargement of the vestibular aqueduct. Mutation(s) in the SLC26A4 gene also cause Pendred syndrome." C165258 Cellosaurus Disease Terminology C129024 "Deafness, Autosomal Recessive 49" "Deafness, Autosomal Recessive 49" "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." C165258 Cellosaurus Disease Terminology C6476 Dedifferentiated Chondrosarcoma Dedifferentiated Chondrosarcoma "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." C165258 Cellosaurus Disease Terminology C3704 Dedifferentiated Liposarcoma Dedifferentiated Liposarcoma "An atypical lipomatous tumor/well differentiated liposarcoma that shows progression to a usually non-lipomatous, high grade sarcoma. The non-lipomatous sarcoma component may be present in the primary lesion or at the site of recurrence." C165258 Cellosaurus Disease Terminology C49343 Deep Vein Thrombosis Deep Vein Thrombosis "A blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity." C165258 Cellosaurus Disease Terminology C133087 Dejerine-Sottas Neuropathy Dejerine-Sottas Neuropathy "Charcot-Marie-Tooth Disease, Type 3 || Hereditary Motor and Sensory Neuropathy Type III || Hypertrophic Neuropathy of Dejerine-Sottas" A demyelinating peripheral neuropathy characterized by delayed motor development. C165258 Cellosaurus Disease Terminology C84521 Deletion 18p Syndrome Deletion 18p Syndrome 18P Syndrome "A rare genetic syndrome characterized by the deletion of the short arm of chromosome 18. It is associated with mental and growth retardation, prominent ears and ptosis." C165258 Cellosaurus Disease Terminology C84522 Deletion 18q Syndrome Deletion 18q Syndrome 18Q Syndrome || Chromosome 18q Deletion Syndrome "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." C165258 Cellosaurus Disease Terminology C123260 Dent Disease Dent Disease X-Linked Recessive Hypophosphatemic Rickets "An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure." C165258 Cellosaurus Disease Terminology C122653 Dentatorubral-Pallidoluysian Atrophy Dentatorubral-Pallidoluysian Atrophy "A rare, autosomal dominant inherited progressive neurodegenerative disorder. It is caused by a mutation in the ATN1 gene, resulting in a combined degeneration of the dentatorubral and pallidoluysian systems. It can appear at any age, but it usually affects individuals between 20 and 30 years and leads to death within 10-15 years. The clinical presentation depends on the age of the affected individual; juvenile patients develop severe progressive myoclonus epilepsy and cognitive decline, whereas adult patients develop ataxia, choreoathetosis and dementia." C165258 Cellosaurus Disease Terminology C84668 Denys-Drash Syndrome Denys-Drash Syndrome Denys Drash Syndrome "A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders." C165258 Cellosaurus Disease Terminology C2982 Depression Depression A melancholy feeling of sadness and despair. C165258 Cellosaurus Disease Terminology C4683 Dermatofibrosarcoma Protuberans Dermatofibrosarcoma Protuberans Dermatofibrosarcoma "A low grade fibroblastic neoplasm presenting as a nodular cutaneous mass, most often on the trunk and the proximal extremities. The tumor diffusely infiltrates the dermis and the subcutaneous tissues. It is considered a locally aggressive neoplasm, which often recurs but rarely metastasizes." C165258 Cellosaurus Disease Terminology C26744 Dermatomyositis Dermatomyositis Inflammation of the skin and muscle. C165258 Cellosaurus Disease Terminology C4956 Desmoplastic/Nodular Medulloblastoma Desmoplastic/Nodular Medulloblastoma Desmoplastic Medulloblastoma || Desmoplastic Nodular Medulloblastoma "A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network." C165258 Cellosaurus Disease Terminology C116942 Developmental Delay Developmental Delay "Failure to meet, or late achievement of developmental milestones." C165258 Cellosaurus Disease Terminology C122814 Developmental and Epileptic Encephalopathy Developmental and Epileptic Encephalopathy Early Infantile Epileptic Encephalopathy A neurological disorder characterized by recurring seizures presenting within the first three months of life and progressive cerebral dysfunction. C165258 Cellosaurus Disease Terminology C179866 Developmental and Epileptic Encephalopathy 1 Developmental and Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy 1 "An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ARX gene, encoding homeobox protein ARX." C165258 Cellosaurus Disease Terminology C190869 Developmental and Epileptic Encephalopathy 107 Developmental and Epileptic Encephalopathy 107 "An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein." C165258 Cellosaurus Disease Terminology C172096 Developmental and Epileptic Encephalopathy 11 Developmental and Epileptic Encephalopathy 11 Early Infantile Epileptic Encephalopathy 11 "An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the SCN2A gene, encoding sodium channel protein type 2 subunit alpha." C165258 Cellosaurus Disease Terminology C188139 Developmental and Epileptic Encephalopathy 13 Developmental and Epileptic Encephalopathy 13 "Encephalopathy, Early Infantile, 13" "An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the SCN8A gene, encoding sodium channel protein type 8 subunit alpha." C165258 Cellosaurus Disease Terminology C188141 Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 14 "Epileptic Encephalopathy, Early Infantile, 14" "An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the KCNT1 gene, encoding potassium channel subfamily T member 1." C165258 Cellosaurus Disease Terminology C142802 Developmental and Epileptic Encephalopathy 19 Developmental and Epileptic Encephalopathy 19 Early Infantile Epileptic Encephalopathy 19 "An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the GABRA1 gene, encoding gamma-aminobutyric acid receptor subunit alpha-1." C165258 Cellosaurus Disease Terminology C147070 Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 2 Early Infantile Epileptic Encephalopathy 2 "An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the CDKL5 gene, encoding cyclin-dependent kinase-like 5." C165258 Cellosaurus Disease Terminology C168597 Developmental and Epileptic Encephalopathy 25 Developmental and Epileptic Encephalopathy 25 Early Infantile Epileptic Encephalopathy 25 || SLC13A5 Deficiency "An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the SLC13A5 gene, encoding solute carrier family 13 member 5." C165258 Cellosaurus Disease Terminology C175047 Developmental and Epileptic Encephalopathy 26 Developmental and Epileptic Encephalopathy 26 Early Infantile Epileptic Encephalopathy 26 "An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the KCNB1 gene, encoding potassium voltage-gated channel subfamily B member 1." C165258 Cellosaurus Disease Terminology C189273 Developmental and Epileptic Encephalopathy 28 Developmental and Epileptic Encephalopathy 28 Early Infantile Epileptic Encephalopathy 28 "An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the WWOX gene, encoding WW domain-containing oxidoreductase." C165258 Cellosaurus Disease Terminology C185237 Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 31 Early Infantile Epileptic Encephalopathy 31 "An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the DNM1 gene, encoding dynamin-1." C165258 Cellosaurus Disease Terminology C155998 Developmental and Epileptic Encephalopathy 32 Developmental and Epileptic Encephalopathy 32 Early Infantile Epileptic Encephalopathy 32 "An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the KCNA2 gene, encoding potassium voltage-gated channel subfamily A member 2." C165258 Cellosaurus Disease Terminology C142803 Developmental and Epileptic Encephalopathy 36 Developmental and Epileptic Encephalopathy 36 Early Infantile Epileptic Encephalopathy 36 "An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the ALG13 gene, encoding putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13." C165258 Cellosaurus Disease Terminology C162472 Developmental and Epileptic Encephalopathy 4 Developmental and Epileptic Encephalopathy 4 Early Infantile Epileptic Encephalopathy 4 "An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the STXBP1 gene, encoding syntaxin-binding protein 1." C165258 Cellosaurus Disease Terminology C188142 Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 42 "Epileptic Encephalopathy, Early Infantile, 42" "An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A." C165258 Cellosaurus Disease Terminology C177545 Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 46 Early Infantile Epileptic Encephalopathy 46 "An autosomal dominant condition caused by mutation(s) in the GRIN2D gene, encoding glutamate receptor ionotropic, NMDA 2D. It is characterized by developmental delay and intractable seizures." C165258 Cellosaurus Disease Terminology C190868 Developmental and Epileptic Encephalopathy 50 Developmental and Epileptic Encephalopathy 50 Congenital Disorder of Glycosylation Type Iz || Early Infantile Epileptic Encephalopathy 50 "An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the CAD gene, encoding CAD protein." C165258 Cellosaurus Disease Terminology C147071 Developmental and Epileptic Encephalopathy 6A Developmental and Epileptic Encephalopathy 6A Dravet Syndrome || Early Infantile Epileptic Encephalopathy 6 "An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha." C165258 Cellosaurus Disease Terminology C179296 Developmental and Epileptic Encephalopathy 76 Developmental and Epileptic Encephalopathy 76 Early Infantile Epileptic Encephalopathy 76 "An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B." C165258 Cellosaurus Disease Terminology C176223 Devil Facial Tumor Disease 1 Devil Facial Tumor Disease 1 Devil Facial Tumor 1 "A subtype of devil facial tumor disease characterized by the absence of identifiable copies of chromosome 2 or any sex chromosomes, and the presence of only one copy of chromosome 6 and four atypical marker chromosomes with complex rearrangements. DFTD1 tumors also have a characteristic MHC profile." C165258 Cellosaurus Disease Terminology C176224 Devil Facial Tumor Disease 2 Devil Facial Tumor Disease 2 Devil Facial Tumor 2 A subtype of devil facial tumor that has karyotypic changes that differ from devil facial tumor disease 1 in that it does not have chromosomal losses nor the four atypical marker chromosomes displaying complex rearrangements. DFTD2 tumors have a different MHC class I genotype. C165258 Cellosaurus Disease Terminology C2985 Diabetes Mellitus Diabetes Mellitus Diabetes A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. C165258 Cellosaurus Disease Terminology C34538 Diabetic Retinopathy Diabetic Retinopathy "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." C165258 Cellosaurus Disease Terminology C183530 "Diarrhea 5, with Tufting Enteropathy, Congenital" "Diarrhea 5, with Tufting Enteropathy, Congenital" Diarrhea-5 with Congenital Tufting Enteropathy "A rare autosomal recessive condition caused by mutation(s) in the EPCAM gene, encoding epithelial cell adhesion molecule. It is characterized by intractable diarrhea in infancy, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum." C165258 Cellosaurus Disease Terminology C156311 Diastrophic Dysplasia Diastrophic Dysplasia "An autosomal recessive condition caused by mutation(s) in the SLC26A2 gene, encoding sulfate transporter. It is characterized by cartilaginous and bony abnormalities, in particular very short arms and legs and the ""hitchhiker"" thumb, resulting from deformity of the first metacarpal." C165258 Cellosaurus Disease Terminology C129274 "Diffuse Astrocytoma, IDH-Wildtype" "Diffuse Astrocytoma, IDH-Wildtype" Diffuse astrocytoma lacking mutations in IDH1 or IDH2 genes. C165258 Cellosaurus Disease Terminology C94764 Diffuse Intrinsic Pontine Glioma Diffuse Intrinsic Pontine Glioma A glioma that grows diffusely in the pons. It usually affects children and has a poor prognosis. C165258 Cellosaurus Disease Terminology C8851 Diffuse Large B-Cell Lymphoma Diffuse Large B-Cell Lymphoma "A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes. It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases. Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma. Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma." C165258 Cellosaurus Disease Terminology C36081 Diffuse Large B-Cell Lymphoma Activated B-Cell Type Diffuse Large B-Cell Lymphoma Activated B-Cell Type Activated B-Cell-Like Diffuse Large B-Cell Lymphoma || DLBCL Activated B-Cell Type || Diffuse Large B-Cell Lymphoma Non-GC/ABC || Diffuse Large B-Cell Lymphoma Non-Germinal Center/Activated B-Cell Type || Diffuse Large B-Cell Lymphoma with an Activated B-Cell Expression Profile || Non-GC/ABC DLBCL "A biologic subset of diffuse large B-cell lymphomas with a unique molecular signature or expression profile. It represents approximately 30% of diffuse large B-cell lymphomas, and is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. Morphologically, these lymphomas are either centroblastic or immunoblastic (ratio 2:1). Patients with this type of diffuse large B-cell lymphoma are reported to have a less favorable outcome compared to those with a germinal center B-cell expression profile, with a 5-year survival rate of 35% and a median survival of 2 years." C165258 Cellosaurus Disease Terminology C36080 Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type DLBCL Germinal Center B-Cell Type || Diffuse Large B-Cell Lymphoma with a Germinal Center B-Cell Expression Profile || Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma "A biologic subset of diffuse large B-cell lymphomas with a unique molecular signature or expression profile. It represents approximately 50% of diffuse large B-cell lymphomas, and is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. Morphologically, the vast majority of these lymphomas are centroblastic and a small minority are immunoblastic (ratio20:1). Patients with this type of diffuse large B-cell lymphoma have a more favorable outcome, with a 5-year survival rate of 60% and a median survival of 10 years." C165258 Cellosaurus Disease Terminology C3052 Digestive System Neoplasm Digestive System Neoplasm Digestive Neoplasm || Digestive System Tumor || Digestive Tumor || GI Neoplasm || GI System Neoplasm || GI System Tumor || GI Tumor || Gastrointestinal Neoplasm || Gastrointestinal System Neoplasm || Gastrointestinal System Tumor || Gastrointestinal Tumor || Neoplasm of Digestive System || Neoplasm of GI System || Neoplasm of Gastrointestinal System || Neoplasm of the Digestive System || Neoplasm of the GI System || Neoplasm of the Gastrointestinal System || Tumor of Digestive System || Tumor of GI System || Tumor of Gastrointestinal System || Tumor of the Digestive System || Tumor of the GI System || Tumor of the Gastrointestinal System A benign or malignant neoplasm involving any part of the digestive system. C165258 Cellosaurus Disease Terminology C84673 Dilated Cardiomyopathy Dilated Cardiomyopathy "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." C165258 Cellosaurus Disease Terminology C165596 Dilated Cardiomyopathy-1A Dilated Cardiomyopathy-1A CMD1A "An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the LMNA gene, encoding lamin-A and lamin C." C165258 Cellosaurus Disease Terminology C174435 Dilated Cardiomyopathy-1DD Dilated Cardiomyopathy-1DD "An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the RBM20 gene, encoding RNA-binding protein 20." C165258 Cellosaurus Disease Terminology C182078 Dilated Cardiomyopathy-1G Dilated Cardiomyopathy-1G "A subtype of dilated cardiomyopathy caused by mutation(s) in the TTN gene, encoding titin." C165258 Cellosaurus Disease Terminology C173625 Dilated Cardiomyopathy-1P Dilated Cardiomyopathy-1P "An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the PLN gene, encoding cardiac phospholamban." C165258 Cellosaurus Disease Terminology C187983 Dilated Cardiomyopathy-1W Dilated Cardiomyopathy-1W "An genetic condition that is a subtype of dilated cardiomyopathy caused by mutation(s) in the VCL gene, encoding vinculin." C165258 Cellosaurus Disease Terminology C186785 Dilated Cardiomyopathy-2C Dilated Cardiomyopathy-2C "An autosomal recessive subtype of dilated cardiomyopathy caused by mutation(s) in the PPCS gene, encoding phosphopantothenate--cysteine ligase." C165258 Cellosaurus Disease Terminology C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome Malouf Syndrome || Najjar Syndrome "An autosomal dominant condition caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. It is characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism." C165258 Cellosaurus Disease Terminology C132826 Distal Hereditary Motor Neuronopathy Type I Distal Hereditary Motor Neuronopathy Type I "Charcot-Marie-Tooth Disease, Spinal, I || DHMN1 || Distal HMN I || HMN1 || Spinal CMT I" "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration." C165258 Cellosaurus Disease Terminology C185241 Distal Trisomy 2p Distal Trisomy 2p "A chromosomal anomaly characterized by the partial duplication of the short arm of chromosome 2. The phenotype is highly variable but principally characterized by growth failure, global developmental delay, facial dysmorphism and ocular anomalies." C165258 Cellosaurus Disease Terminology C84676 Donohue Syndrome Donohue Syndrome Leprechaunism "A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia." C165258 Cellosaurus Disease Terminology C116719 Dopa-Responsive Dystonia Dopa-Responsive Dystonia DYT5 Dystonia || Segawa's Disease "A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian symptoms that may progress from lower to upper extremities witha diurnal pattern, and involuntary muscle contractions and other uncontrolled movements in the lower limbs that worsen with excercise and improve with rest." C165258 Cellosaurus Disease Terminology C129866 Dopamine Transporter Deficiency Syndrome Dopamine Transporter Deficiency Syndrome "Parkinsonism-Dystonia, Infantile" "An autosomal recessive condition caused by mutation(s) in the SLC6A3 gene, encoding sodium-dependent dopamine transporter. It is characterized by Parkinsonian features and has an onset in early infancy." C165258 Cellosaurus Disease Terminology C2993 Down Syndrome Down Syndrome Trisomy 21 (Down Syndrome) || Trisomy 21 Syndrome "A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome." C165258 Cellosaurus Disease Terminology C116573 Dravet Syndrome Dravet Syndrome Severe Myoclonic Epilepsy of Infancy "A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills." C165258 Cellosaurus Disease Terminology C84427 Drug Induced Liver Injury Drug Induced Liver Injury Damage to the liver tissue due to drug overdose. C165258 Cellosaurus Disease Terminology C121946 Drug- and Toxin-Induced Pulmonary Arterial Hypertension Drug- and Toxin-Induced Pulmonary Arterial Hypertension "A rare, progressive disorder characterized by abnormally high blood pressure in the pulmonary artery caused by obstruction and obliteration of the small pulmonary arteries due to drugs or toxins. The stimulant appetite suppressant aminorex fumarate and other stimulant anorectics such as the serotonin reuptake inhibitor dexfenfluramine, as well as other agents, including illegal substances have been reported as causative agents." C165258 Cellosaurus Disease Terminology C125591 Dubowitz Syndrome Dubowitz Syndrome "A rare, autosomal recessive inherited syndrome characterized by microcephaly, growth retardation, and a small, round, triangular shaped face with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids." C165258 Cellosaurus Disease Terminology C75482 Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. C165258 Cellosaurus Disease Terminology C134769 Duck Neoplasm Duck Neoplasm A neoplasm that occurs in a duck. C165258 Cellosaurus Disease Terminology C7889 Duodenal Adenocarcinoma Duodenal Adenocarcinoma Adenocarcinoma of Duodenum || Adenocarcinoma of the Duodenum An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. C165258 Cellosaurus Disease Terminology C135080 Duodenal Neuroendocrine Tumor Duodenal Neuroendocrine Tumor "A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the duodenum." C165258 Cellosaurus Disease Terminology C124844 Dyggve-Melchior-Clausen Syndrome Dyggve-Melchior-Clausen Syndrome DMC || Dyggve-Melchior-Clausen Disease "A rare, autosomal recessive inherited syndrome caused by mutations in the DYM gene. It is characterized by abnormal skeletal development, microcephaly, and intellectual disability." C165258 Cellosaurus Disease Terminology C118435 Dyschromatosis Symmetrica Hereditaria Dyschromatosis Symmetrica Hereditaria DSH1 || Dyschromatosis Symmetrica Hereditaria 1 || RAD || Reticulate Acropigmentation of Dohi || Symmetric Dyschromatosis of the Extremities "A rare, autosomal dominant inherited disorder caused by heterozygous mutation in the DSRAD gene. Most cases have been reported from countries in East Asia. It is characterized by the presence of hyperpigmented and hypopigmented macules on the dorsal aspect of the extremities and face." C165258 Cellosaurus Disease Terminology C173131 Dyschromatosis Universalis Hereditaria Dyschromatosis Universalis Hereditaria "A genetically heterogenous condition, usually inherited in an autosomal dominant fashion, characterized by hypopigmented and hyperpigmented macules involving the entire body surface." C165258 Cellosaurus Disease Terminology C111802 Dyskeratosis Congenita Dyskeratosis Congenita Zinsser-Engman-Cole Syndrome "A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region." C165258 Cellosaurus Disease Terminology C34563 Dystonia Dystonia "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." C165258 Cellosaurus Disease Terminology C157577 Dystonia 12 Dystonia 12 Rapid-Onset Dystonia-Parkinsonism "An autosomal dominant condition caused by mutation(s) in the ATP1A3 gene, encoding sodium/potassium-transporting ATPase subunit alpha-3. It is characterized by abrupt onset of dystonia and parkinsonism in young adulthood, often triggered by physical or psychological stress." C165258 Cellosaurus Disease Terminology C168729 Dystonia 16 Dystonia 16 An extremely rare autosomal recessive dystonia-parkinsonism condition caused by mutation(s) in the PRKRA gene encoding interferon-inducible double-stranded RNA-dependent protein kinase activator A. C165258 Cellosaurus Disease Terminology C84679 Dystrophia Myotonica 1 Dystrophia Myotonica 1 "A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts." C165258 Cellosaurus Disease Terminology C84680 Dystrophia Myotonica 2 Dystrophia Myotonica 2 Proximal Myotonic Myopathy "A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities." C165258 Cellosaurus Disease Terminology C27694 EBV-Related Burkitt Lymphoma EBV-Related Burkitt Lymphoma EBV Related Burkitt's Lymphoma || EBV-Related Burkitt's Lymphoma || Epstein-Barr Virus-Related Burkitt Lymphoma || Epstein-Barr Virus-Related Burkitt's Lymphoma Burkitt lymphoma that is caused by Epstein-Barr virus infection. C165258 Cellosaurus Disease Terminology C27696 EBV-Related Post-Transplant Lymphoproliferative Disorder EBV-Related Post-Transplant Lymphoproliferative Disorder EBV-Related PTLD || Epstein-Barr Virus-Related Post-Transplant Lymphoproliferative Disorder C165258 Cellosaurus Disease Terminology C130043 Early T Acute Lymphoblastic Leukemia Early T Acute Lymphoblastic Leukemia Early T-Acute Lymphoblastic Leukemia || Early T-Cell Precursor Acute Lymphoblastic Leukemia || Early T-Cell Precursor Lymphoblastic Leukemia T-acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation. C165258 Cellosaurus Disease Terminology C84681 Ebstein Anomaly Ebstein Anomaly Ebstein's Anomaly "A rare congenital heart malformation characterized by apical displacement of the opening of the tricuspid valve. The defect involves both the right ventricle and the tricuspid valve, and can lead to cardiomyopathy and tachyarrhythmias." C165258 Cellosaurus Disease Terminology C118844 Ectodermal Dysplasia and Immunodeficiency Ectodermal Dysplasia and Immunodeficiency Anhidrotic Ectodermal Dysplasia with Immune Deficiency || Hypohidrotic Ectodermal Dysplasia with Immune Deficiency "A rare disorder caused by mutations either in the IKBKG gene resulting in an X-linked recessive inheritance pattern or in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections." C165258 Cellosaurus Disease Terminology C125484 Ectopia Lentis Ectopia Lentis Partial or complete displacement of the crystalline lens from its normal position in the eye. C165258 Cellosaurus Disease Terminology C148261 Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome EEC Syndrome "A rare form of ectodermal dysplasia, inherited in an autosomal dominant fashion, manifesting with varying degrees of severity, ectrodactyly and cleft lip/palate." C165258 Cellosaurus Disease Terminology C3001 Eczema Eczema Atopic Dermatitis || Eczematous Dermatitis "A form of dermatitis characterized by red, itchy, scaly, or crusty patches that can be chronic or intermittent." C165258 Cellosaurus Disease Terminology C34568 Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility. C165258 Cellosaurus Disease Terminology C168975 "Ehlers-Danlos Syndrome, Musculocontractural Type 1" "Ehlers-Danlos Syndrome, Musculocontractural Type 1" "An autosomal recessive form of Ehlers-Danlos syndrome caused by mutation(s) in the CHST14 gene, encoding carbohydrate sulfotransferase 14." C165258 Cellosaurus Disease Terminology C125696 "Ehlers-Danlos Syndrome, Type I" "Ehlers-Danlos Syndrome, Type I" "A classic type of Ehlers-Danlos syndrome resulting from autosomal dominant mutation(s) in the COL5A1 gene, encoding collagen alpha-1(V) chain." C165258 Cellosaurus Disease Terminology C125697 "Ehlers-Danlos Syndrome, Type II" "Ehlers-Danlos Syndrome, Type II" "A classic type of Ehlers-Danlos syndrome resulting from autosomal dominant mutation(s) in the COL5A2 gene, encoding collagen alpha-2(V) chain." C165258 Cellosaurus Disease Terminology C125698 "Ehlers-Danlos Syndrome, Type III" "Ehlers-Danlos Syndrome, Type III" "Ehlers-Danlos syndrome, type III is the hypermobility type Ehlers-Danlos syndrome. In most cases, the cause is unknown. Mutations in the TNXB gene have been found in a very small percentage of cases." C165258 Cellosaurus Disease Terminology C125699 "Ehlers-Danlos Syndrome, Type IV" "Ehlers-Danlos Syndrome, Type IV" "Ehlers-Danlos syndrome, type IV is the vascular type Ehlers-Danlos syndrome. It results from mutations in the COL3A1 gene." C165258 Cellosaurus Disease Terminology C141423 "Ehlers-Danlos Syndrome, Type V" "Ehlers-Danlos Syndrome, Type V" "An X-linked condition characterized by joint hyperextensibility, mild skin hyperelastisity, and abnormal scarring. The molecular basis for this condition has not been fully elucidated." C165258 Cellosaurus Disease Terminology C125700 "Ehlers-Danlos Syndrome, Type VI" "Ehlers-Danlos Syndrome, Type VI" "Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene." C165258 Cellosaurus Disease Terminology C125701 "Ehlers-Danlos Syndrome, Type VII" "Ehlers-Danlos Syndrome, Type VII" "Ehlers-Danlos syndrome, type VII includes the arthrochalasia type (types VIIA and VIIB) Ehlers-Danlos syndrome, and the dermatosparaxis type (type VIIC) Ehlers-Danlos syndrome. The arthrochalasia type Ehlers-Danlos syndrome is caused by mutations in the COL1A1 gene or the COL1A2 gene. The dermatosparaxis type Ehlers-Danlos syndrome is caused by mutations in the ADAMTS2 gene." C165258 Cellosaurus Disease Terminology C84390 Eisenmenger Syndrome Eisenmenger Syndrome Eisenmenger's Syndrome "A syndrome characterized by the reversal of a septal defect-associated left-to-right shunt due to the resulting secondary pulmonary hypertension. The presence of the pulmonary hypertension causes increased pressure in the right heart chambers resulting in the reversal of the shunt into a right-to-left shunt. Signs and symptoms include cyanosis, pulmonary hypertension, heart failure, and high red blood cell count." C165258 Cellosaurus Disease Terminology C84684 Ellis-Van Creveld Syndrome Ellis-Van Creveld Syndrome Chondroectodermal Dysplasia "A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations." C165258 Cellosaurus Disease Terminology C3752 Embryonal Carcinoma Embryonal Carcinoma "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." C165258 Cellosaurus Disease Terminology C8971 Embryonal Rhabdomyosarcoma Embryonal Rhabdomyosarcoma A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. C165258 Cellosaurus Disease Terminology C84685 Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy "An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck." C165258 Cellosaurus Disease Terminology C168730 "Emery-Dreifuss Muscular Dystrophy 1, X-Linked" "Emery-Dreifuss Muscular Dystrophy 1, X-Linked" "Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin." C165258 Cellosaurus Disease Terminology C126745 "Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant" "Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant" Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene. C165258 Cellosaurus Disease Terminology C3008 Enchondromatosis Enchondromatosis Dyschondroplasia || Ollier Disease || Ollier's Disease "A rare benign disorder characterized by lack of normal endochondral ossification, and the growth of multiple enchondromas. It primarily affects the bones of the hand, in children and young adults. Extent of the disease varies; in some cases, neoplastic involvement may be widespread causing considerable deformity." C165258 Cellosaurus Disease Terminology C35874 Endemic African Kaposi Sarcoma Endemic African Kaposi Sarcoma Endemic African Kaposi's Sarcoma A Kaposi sarcoma that occurs in adults and children in Equatorial Africa. C165258 Cellosaurus Disease Terminology C7359 Endometrial Adenocarcinoma Endometrial Adenocarcinoma "Adenocarcinoma of Endometrium || Adenocarcinoma of the Endometrium || Endometrial Adenocarcinoma, Not Otherwise Specified" "An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." C165258 Cellosaurus Disease Terminology C114656 Endometrial Adenosquamous Carcinoma Endometrial Adenosquamous Carcinoma A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components. C165258 Cellosaurus Disease Terminology C7558 Endometrial Carcinoma Endometrial Carcinoma Carcinoma of Endometrium || Carcinoma of the Endometrium "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation." C165258 Cellosaurus Disease Terminology C8028 Endometrial Clear Cell Adenocarcinoma Endometrial Clear Cell Adenocarcinoma Clear Cell Carcinoma of Endometrium || Clear Cell Carcinoma of the Endometrium "A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures." C165258 Cellosaurus Disease Terminology C6290 "Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation" "Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation" Adenocanthoma of Endometrium || Endometrial Endometrioid Adenocarcinoma with Squamous Differentiation An endometrioid adenocarcinoma of the endometrium showing squamous differentiation. C165258 Cellosaurus Disease Terminology C27838 Endometrial Serous Adenocarcinoma Endometrial Serous Adenocarcinoma Uterine Corpus Serous Adenocarcinoma || Uterine Papillary Serous Carcinoma || Uterine Serous Adenocarcinoma || Uterine Serous Carcinoma || Uterine Serous Papillary Adenocarcinoma "A high-grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." C165258 Cellosaurus Disease Terminology C40156 Endometrial Undifferentiated Carcinoma Endometrial Undifferentiated Carcinoma Undifferentiated Endometrial Carcinoma A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation. C165258 Cellosaurus Disease Terminology C8973 Endometrioid Stromal Sarcoma Endometrioid Stromal Sarcoma Endometrial Stromal Sarcoma "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma." C165258 Cellosaurus Disease Terminology C3014 Endometriosis Endometriosis The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. C165258 Cellosaurus Disease Terminology C112116 Eosinophilic Fasciitis Eosinophilic Fasciitis "Inflammation and induration of the fascia related to an accumulation of white blood cells, including eosinophils." C165258 Cellosaurus Disease Terminology C3016 Eosinophilic Granuloma Eosinophilic Granuloma Eosinophilic Xanthomatous Granuloma "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes." C165258 Cellosaurus Disease Terminology C34481 Eosinophilic Granulomatosis with Polyangiitis Eosinophilic Granulomatosis with Polyangiitis Allergic Granulomatosis || Allergic Granulomatous Angiitis || Churg-Strauss Syndrome An autoimmune necrotizing vasculitis with the formation of granulomas. It is a pulmonary and systemic vasculitis associated with eosinophilia. C165258 Cellosaurus Disease Terminology C3017 Ependymoma Ependymoma WHO Grade 2 Ependymal Neoplasm || WHO Grade 2 Ependymal Tumor || WHO Grade II Ependymal Neoplasm || WHO Grade II Ependymal Tumor "A WHO grade 2, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" C165258 Cellosaurus Disease Terminology C126877 Epidermodysplasia Verruciformis Epidermodysplasia Verruciformis Lewandowsky-Lutz Dysplasia "An extremely rare skin disorder usually inherited in an autosomal recessive pattern and caused by mutation(s) in the TMC6 or TMC8 gene, encoding transmembrane channel-like protein 6 and transmembrane channel-like protein 8, respectively. It is characterized by chronic human papillomavirus infection. Patients develop papillomatous wart-like lesions and pigmented plaques on the skin. It predisposes to cutaneous carcinomas, especially in situ and invasive squamous cell carcinomas." C165258 Cellosaurus Disease Terminology C67383 Epidermolysis Bullosa Epidermolysis Bullosa "An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids." C165258 Cellosaurus Disease Terminology C84691 Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Dystrophica A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. C165258 Cellosaurus Disease Terminology C84692 Epidermolysis Bullosa Simplex Epidermolysis Bullosa Simplex A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin. C165258 Cellosaurus Disease Terminology C162474 "Epidermolysis Bullosa, Junctional, with Pyloric Atresia" "Epidermolysis Bullosa, Junctional, with Pyloric Atresia" Carmi Syndrome "An autosomal recessive condition caused by mutation(s), in the ITGA6 or ITGB4 genes, encoding integrin alpha-6 and integrin beta-4 respectively. It is characterized by junctional epidermolysis and pyloric stenosis/atresia." C165258 Cellosaurus Disease Terminology C62569 Epidermolytic Ichthyosis Epidermolytic Ichthyosis Bullous Congenital Ichthyosiform Erythroderma || Epidermolytic Hyperkeratosis "An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility." C165258 Cellosaurus Disease Terminology C168598 "Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation" "Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation" "Aphasia, Acquired, with Epilepsy || FESD with or without Mental Retardation" "An autosomal dominant condition caused by mutation(s) in the GRIN2A gene, encoding glutamate receptor ionotropic NMDA 2A. It is characterized by childhood-onset seizures affecting the temporal lobe or rolandic area of the brain, with a variable phenotype. It often affects speech and language." C165258 Cellosaurus Disease Terminology C142804 "Epilepsy, Progressive Myoclonic 7" "Epilepsy, Progressive Myoclonic 7" EPM7 "An autosomal dominant form of early progressive myoclonic epilepsy, caused by mutation(s) in the KCNC1 gene, encoding potassium voltage-gated channel subfamily C member 1." C165258 Cellosaurus Disease Terminology C178413 Episodic Kinesigenic Dyskinesia-1 Episodic Kinesigenic Dyskinesia-1 Dystonia 10 || PKD Dystonia || Paroxysmal Kinesigenic Dyskinesia "An autosomal dominant condition caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by dyskinesia triggered by sudden movement. It shares features with infantile convulsions and paroxysmal choreoathetosis, familial. It is an allelic disorder." C165258 Cellosaurus Disease Terminology C3800 Epithelioid Hemangioendothelioma Epithelioid Hemangioendothelioma Epithelioid Angioendothelioma || Epithelioid Angiosarcoma "A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." C165258 Cellosaurus Disease Terminology C3714 Epithelioid Sarcoma Epithelioid Sarcoma Epithelioid Cell Sarcoma "An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma)." C165258 Cellosaurus Disease Terminology C7152 Erythroleukemia Erythroleukemia "Erythroleukemia (Erythroid/Myeloid) || Erythroleukemia, Erythroid/Myeloid" Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. C165258 Cellosaurus Disease Terminology C34593 Erythromelalgia Erythromelalgia "A rare disorder characterized by periodic inflammation and blockage of the vessels of the extremities, resulting in skin redness, swelling, and burning pain in the affected sites. It may manifest as a primary disorder caused by mutations of the SCN9A gene or as a secondary disorder due to hematologic disorders or medication side effects." C165258 Cellosaurus Disease Terminology C84697 Erythropoietic Porphyria Erythropoietic Porphyria A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen III cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas. C165258 Cellosaurus Disease Terminology C84698 Erythropoietic Protoporphyria Erythropoietic Protoporphyria "Protoporphyria, Erythropoietic" "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." C165258 Cellosaurus Disease Terminology C4025 Esophageal Adenocarcinoma Esophageal Adenocarcinoma Adenocarcinoma of Esophagus || Adenocarcinoma of the Esophagus || Esophagus Adenocarcinoma "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." C165258 Cellosaurus Disease Terminology C187703 Esophageal Atresia/Tracheoesophageal Fistula Type C Esophageal Atresia/Tracheoesophageal Fistula Type C EA/TEF Type C || Type C Esophageal Atresia "A type of esophageal atresia (EA) / tracheoesophageal fistula (TEF) in which the upper segment of the esophagus ends in a blind pouch and the lower segment is connected to the trachea via a TEF. This is the most common type of EA/TEF, which accounts for approximately 85 percent of cases." C165258 Cellosaurus Disease Terminology C3513 Esophageal Carcinoma Esophageal Carcinoma Cancer of Esophagus || Cancer of the Esophagus || Carcinoma of Esophagus || Carcinoma of the Esophagus || Esophageal Cancer || Esophagus Carcinoma A malignant epithelial tumor arising from the esophageal mucosa. Two major histologic types of esophageal carcinoma have been described: squamous cell carcinoma and adenocarcinoma. This type of cancer is associated with excessive ethanol and cigarette usage. C165258 Cellosaurus Disease Terminology C6762 Esophageal Small Cell Carcinoma Esophageal Small Cell Neuroendocrine Carcinoma "Esophageal Small Cell Carcinoma || Esophageal Small Cell NEC || Esophagus Small Cell Carcinoma || Small Cell Carcinoma of Esophagus || Small Cell Carcinoma of the Esophagus || Small Cell Carcinoma, Esophagus" "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells." C165258 Cellosaurus Disease Terminology C4024 Esophageal Squamous Cell Carcinoma Esophageal Squamous Cell Carcinoma "Esophageal Epidermoid Carcinoma || Esophageal SCC || Esophageal Squamous Cell Carcinoma, NOS || Esophageal Squamous Cell Carcinoma, Not Otherwise Specified || Esophagus SCC || Esophagus Squamous Cell Carcinoma || SCC of Esophagus || SCC of the Esophagus || Squamous Cell Carcinoma of Esophagus || Squamous Cell Carcinoma of the Esophagus" "A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor." C165258 Cellosaurus Disease Terminology C3407 Essential Thrombocythemia Essential Thrombocythemia Essential Thrombocytemia || Essential Thrombocytosis || Idiopathic Thrombocythemia || Primary Thrombocythemia || Primary Thrombocytosis "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)" C165258 Cellosaurus Disease Terminology C4817 Ewing Sarcoma Ewing Sarcoma ES || Ewing's Sarcoma || Ewing's Tumor "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." C165258 Cellosaurus Disease Terminology C27291 Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor Ewing Family of Tumors || Ewing's Family of Tumors || Ewing's Family of Tumours || Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor || Tumors of Ewing's Family || Tumors of the Ewing's Family "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." C165258 Cellosaurus Disease Terminology C35871 Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone "A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." C165258 Cellosaurus Disease Terminology C129025 Exfoliation Syndrome Exfoliation Syndrome Exfoliation Glaucoma "An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma." C165258 Cellosaurus Disease Terminology C92562 Expressive Language Disorder Expressive Language Disorder "A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." C165258 Cellosaurus Disease Terminology C6083 External Ear Squamous Cell Carcinoma External Ear Squamous Cell Carcinoma Epidermoid Carcinoma of External Ear || Epidermoid Carcinoma of the External Ear || External Ear Epidermoid Carcinoma || Squamous Cell Carcinoma of External Ear || Squamous Cell Carcinoma of the External Ear A squamous cell carcinoma that arises from the skin of the external ear. C165258 Cellosaurus Disease Terminology C5328 Extra-Adrenal Retroperitoneal Paraganglioma Extra-Adrenal Retroperitoneal Paraganglioma Paraganglioma of Extra-Adrenal Retroperitoneal Area || Paraganglioma of the Extra-Adrenal Retroperitoneal Area "A sympathetic paraganglioma arising from the retroperitoneum, outside the adrenal gland." C165258 Cellosaurus Disease Terminology C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Extranodal Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid Tissue || MALT Lymphoma || MALToma || Mucosa-Associated Lymphoid Tissue Lymphoma "An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C6586 Extrarenal Rhabdoid Tumor Extrarenal Rhabdoid Tumor Malignant Extrarenal Rhabdoid Neoplasm || Rhabdoid Tumor of Soft Tissue "A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm." C165258 Cellosaurus Disease Terminology C96847 Extrarenal Rhabdoid Tumor of the Liver Extrarenal Rhabdoid Tumor of the Liver Extrarenal Malignant Rhabdoid Tumor of the Liver "A rare, aggressive primary malignant tumor of the liver that occurs in childhood. It is characterized by the presence of a diffuse infiltrate of undifferentiated cells with rhabdoid features." C165258 Cellosaurus Disease Terminology C7135 Extraskeletal Ewing Sarcoma Extraskeletal Ewing Sarcoma Extra-Osseous Ewing's Sarcoma || Extraosseous Ewing Sarcoma || Extraosseous Ewing's Sarcoma || Extraosseous Ewing's Tumor || Extraskeletal Ewing's Sarcoma "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." C165258 Cellosaurus Disease Terminology C27502 Extraskeletal Myxoid Chondrosarcoma || Myxoid Chondrosarcoma Extraskeletal Myxoid Chondrosarcoma Extraosseous Chondrosarcoma || Extraskeletal Chondrosarcoma || Myxoid Chondrosarcoma || Myxoid Extraosseous Chondrosarcoma || Myxoid Extraskeletal Chondrosarcoma "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." C165258 Cellosaurus Disease Terminology C8810 Extraskeletal Osteosarcoma Extraskeletal Osteosarcoma Extraosseous Osteosarcoma || Extraskeletal Osteogenic Sarcoma || Soft Tissue Osteosarcoma An osteosarcoma arising from the soft tissue. C165258 Cellosaurus Disease Terminology C175048 Exudative Vitreoretinopathy 1 Exudative Vitreoretinopathy 1 "An autosomal dominant condition caused by mutation(s) in the FZD4 gene, encoding frizzled-4. It is characterized by a variable phenotype resulting from incomplete development of the retinal vasculature. Mutation(s) in the FZD4 gene, also cause a form of retinopathy of prematurity." C165258 Cellosaurus Disease Terminology C43340 Eye Sebaceous Carcinoma Eye Sebaceous Carcinoma Ocular Sebaceous Carcinoma A carcinoma that arises from the sebaceous glands of the ocular adnexa and sebaceous glands of the eyelid and caruncle. C165258 Cellosaurus Disease Terminology C171270 FG Syndrome Type 1 FG Syndrome Type 1 Opitz-Kaveggia Syndrome "An X-linked recessive mental retardation syndrome caused by mutation(s) in the MED12 gene, encoding mediator of RNA polymerase II transcription subunit 12." C165258 Cellosaurus Disease Terminology C84701 Fabry Disease Fabry Disease Alpha-Galactosidase A Deficiency || Angiokeratoma Corporis Diffusum "A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure." C165258 Cellosaurus Disease Terminology C84704 Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well." C165258 Cellosaurus Disease Terminology C172704 Facioscapulohumeral Muscular Dystrophy 1 Facioscapulohumeral Muscular Dystrophy 1 An autosomal dominant form of facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat. C165258 Cellosaurus Disease Terminology C172705 Facioscapulohumeral Muscular Dystrophy 2 Facioscapulohumeral Muscular Dystrophy 2 "A form of facioscapulohumeral muscular dystrophy with digenic inheritance, caused by a combination of heterozygous mutation in the SMCHD1 gene and the presence of a haplotype that is permissive for DUX4." C165258 Cellosaurus Disease Terminology C3867 Fallopian Tube Carcinoma Fallopian Tube Carcinoma Cancer of Fallopian Tube || Cancer of the Fallopian Tube || Carcinoma of Fallopian Tube || Carcinoma of the Fallopian Tube || Fallopian Tube Cancer "A carcinoma arising from the fallopian tube. Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas." C165258 Cellosaurus Disease Terminology C3339 Familial Adenomatous Polyposis Familial Adenomatous Polyposis APC - Adenomatous Polyposis Coli || Adenomatous Polyposis Coli || Familial Adenomatous Polyposis 1 || Familial Adenomatous Polyposis Coli || Familial Adenomatous Polyposis Syndrome || Hereditary Adenomatous Polyposis Coli || Polyposis Coli "An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea." C165258 Cellosaurus Disease Terminology C84554 Familial Amyloid Neuropathy Familial Amyloid Neuropathy "Amyloid Neuropathies, Familial || Familial Amyloid Polyneuropathy" A rare inherited neuropathy characterized by deposition of amyloid in the peripheral nerves. C165258 Cellosaurus Disease Terminology C84555 Familial Amyloidosis Familial Amyloidosis "Amyloidosis, Familial" An autosomal dominant inherited form of amyloidosis. C165258 Cellosaurus Disease Terminology C177248 Familial Arrhythmogenic Right Ventricular Dysplasia 10 Familial Arrhythmogenic Right Ventricular Dysplasia 10 "An autosomal dominant subtype of arrhythmogenic right ventricular dysplasia caused by mutation(s) in the DSG2 gene, encoding desmoglein-2." C165258 Cellosaurus Disease Terminology C176008 Familial Arrhythmogenic Right Ventricular Dysplasia 13 Familial Arrhythmogenic Right Ventricular Dysplasia 13 "An autosomal dominant subtype of arrhythmogenic right ventricular dysplasia caused by mutation(s) in the CTNNA3 gene, encoding catenin alpha-3." C165258 Cellosaurus Disease Terminology C173470 Familial Arrhythmogenic Right Ventricular Dysplasia 5 Familial Arrhythmogenic Right Ventricular Dysplasia 5 ARVC5 || Arrhythmogenic Right Ventricular Cardiomyopathy 5 "An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the TMEM43 gene on chromosome 3p25, encoding transmembrane protein 43. It is characterized by ventricular ectopy, left ventricular dilation, heart failure, and early death." C165258 Cellosaurus Disease Terminology C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 Familial Arrhythmogenic Right Ventricular Dysplasia 9 "An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the PKP2 gene on chromosome 12p11, encoding plakophilin 2. It is characterized by right ventricular structural abnormalities and arrhythmias, electrocardiographic depolarization/repolarization changes, and sudden death." C165258 Cellosaurus Disease Terminology C185245 Familial Catecholamine-Induced QT Prolongation Familial Catecholamine-Induced QT Prolongation "A familial phenotype characterized by a normal QT interval at rest, but major QT lengthening during catecholergic stimulation." C165258 Cellosaurus Disease Terminology C175208 Familial Digital Arthropathy-Brachydactyly Familial Digital Arthropathy-Brachydactyly "An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by interphalangeal, metacarpophalangeal, and metatarsophalangeal joint deformity and painful osteoarthritis becoming apparent during the first decade of life." C165258 Cellosaurus Disease Terminology C84706 Familial Dysautonomia Familial Dysautonomia "Hereditary Sensory and Autonomic Neuropathy Type III || Neuropathy, Hereditary Sensory and Autonomic, Type III || Riley-Day Syndrome" A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. C165258 Cellosaurus Disease Terminology C161005 Familial Focal Epilepsy with Variable Foci 1 Familial Focal Epilepsy with Variable Foci 1 "An autosomal dominant familial form of epilepsy caused by mutation(s) in the DEPDC5 gene, encoding GATOR complex protein DEPDC5. It is characterized by focal seizures usually arising from the frontal or temporal lobe. The onset of seizures may occur from infancy to adulthood." C165258 Cellosaurus Disease Terminology C189277 Familial Hemiplegic Migraine-1 Familial Hemiplegic Migraine-1 "An autosomal dominant subtype of familial hemiplegic migraine caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A." C165258 Cellosaurus Disease Terminology C61276 Familial Hemophagocytic Lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis Primary Hemophagocytic Lymphohistiocytosis "A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly." C165258 Cellosaurus Disease Terminology C172092 Familial Hypertrophic Cardiomyopathy Type 1 Familial Hypertrophic Cardiomyopathy Type 1 Asymmetric Septal Hypertrophy || Hereditary Ventricular Hypertrophy || Idiopathic Hypertrophic Subaortic Stenosis "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the CAV3 gene, MYH7 gene, or MYLK2 gene encoding caveolin-3, myosin heavy chain 7, and myosin light chain kinase 2, skeletal/cardiac muscle respectively." C165258 Cellosaurus Disease Terminology C188990 Familial Hypertrophic Cardiomyopathy Type 11 Familial Hypertrophic Cardiomyopathy Type 11 "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, alpha cardiac muscle 1." C165258 Cellosaurus Disease Terminology C176899 Familial Hypertrophic Cardiomyopathy Type 14 Familial Hypertrophic Cardiomyopathy Type 14 "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the MYH6 gene, encoding myosin-6." C165258 Cellosaurus Disease Terminology C172093 Familial Hypertrophic Cardiomyopathy Type 17 Familial Hypertrophic Cardiomyopathy Type 17 "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the JPH2 gene, encoding junctophilin-2." C165258 Cellosaurus Disease Terminology C142892 Familial Hypertrophic Cardiomyopathy Type 2 Familial Hypertrophic Cardiomyopathy Type 2 "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TNNT2 gene, encoding troponin T, cardiac muscle." C165258 Cellosaurus Disease Terminology C179295 Familial Hypertrophic Cardiomyopathy Type 26 Familial Hypertrophic Cardiomyopathy Type 26 "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the FLNC gene, encoding filamin-C." C165258 Cellosaurus Disease Terminology C179054 Familial Hypertrophic Cardiomyopathy Type 27 Familial Hypertrophic Cardiomyopathy Type 27 "An autosomal recessive subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ALPK3 gene, encoding alpha-protein kinase 3." C165258 Cellosaurus Disease Terminology C182076 Familial Hypertrophic Cardiomyopathy Type 3 Familial Hypertrophic Cardiomyopathy Type 3 "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TPM1 gene, encoding tropomyosin alpha-1 chain." C165258 Cellosaurus Disease Terminology C133725 Familial Hypertrophic Cardiomyopathy Type 4 Familial Hypertrophic Cardiomyopathy Type 4 "An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy." C165258 Cellosaurus Disease Terminology C177249 Familial Hypertrophic Cardiomyopathy Type 6 Familial Hypertrophic Cardiomyopathy Type 6 "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the PRKAG2 gene, encoding 5'-AMP-activated protein kinase subunit gamma-2." C165258 Cellosaurus Disease Terminology C184989 Familial Hypertrophic Cardiomyopathy Type 7 Familial Hypertrophic Cardiomyopathy Type 7 "An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TNNI3 gene, encoding troponin I, cardiac muscle." C165258 Cellosaurus Disease Terminology C84707 Familial Mediterranean Fever Familial Mediterranean Fever "A usually autosomal recessive inherited inflammatory disorder caused by mutations in the MEFV gene. It is characterized by recurrent painful inflammatory attacks in the abdomen, joints, and chest. The inflammatory attacks are associated with fever." C165258 Cellosaurus Disease Terminology C165527 Familial Partial Lipodystrophy Type 2 Familial Partial Lipodystrophy Type 2 An autosomal dominant sub-type of familial partial lipodystrophy caused by mutation(s) in the LMNA gene encoding prelamin-A/C. C165258 Cellosaurus Disease Terminology C162696 Familial Platelet Disorder with Associated Myeloid Malignancy Familial Platelet Disorder with Associated Myeloid Malignancy "An autosomal dominant condition caused by mutation(s) in the RUNX1 gene, encoding runt-related transcription factor 1. It is characterized by thrombocytopenia, abnormal platelet function, and a propensity to develop acute myeloid leukemia." C165258 Cellosaurus Disease Terminology C189282 Familial Primary Localized Cutaneous Amyloidosis-1 Familial Primary Localized Cutaneous Amyloidosis-1 "An autosomal dominant condition caused by mutation(s) in the OSMR gene, encoding oncostatin-M-specific receptor subunit beta. It is characterized by localized cutaneous amyloidosis." C165258 Cellosaurus Disease Terminology C183309 Familial Restrictive Cardiomyopathy 5 Familial Restrictive Cardiomyopathy 5 "An autosomal dominant condition caused by mutation(s) in the FLNC gene, encoding filamin-C. It is characterized by restrictive cardiomyopathy in the context of normal contractility, left ventricular wall thickness and systolic function." C165258 Cellosaurus Disease Terminology C62505 Fanconi Anemia Fanconi Anemia "Fanconi's Anemia || Pancytopenia, Congenital || Panmyelopathy, Fanconi || Primary Erythroid Hypoplasia" "An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increased incidence of the development of neoplasias." C165258 Cellosaurus Disease Terminology C125702 "Fanconi Anemia, Complementation Group A" "Fanconi Anemia, Complementation Group A" Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. C165258 Cellosaurus Disease Terminology C125703 "Fanconi Anemia, Complementation Group B" "Fanconi Anemia, Complementation Group B" Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. C165258 Cellosaurus Disease Terminology C125704 "Fanconi Anemia, Complementation Group C" "Fanconi Anemia, Complementation Group C" Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. C165258 Cellosaurus Disease Terminology C125705 "Fanconi Anemia, Complementation Group D1" "Fanconi Anemia, Complementation Group D1" Fanconi anemia caused by mutations of the BRCA2 gene. C165258 Cellosaurus Disease Terminology C125706 "Fanconi Anemia, Complementation Group D2" "Fanconi Anemia, Complementation Group D2" "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing." C165258 Cellosaurus Disease Terminology C125709 "Fanconi Anemia, Complementation Group E" "Fanconi Anemia, Complementation Group E" Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. C165258 Cellosaurus Disease Terminology C125707 "Fanconi Anemia, Complementation Group F" "Fanconi Anemia, Complementation Group F" Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. C165258 Cellosaurus Disease Terminology C125708 "Fanconi Anemia, Complementation Group G" "Fanconi Anemia, Complementation Group G" Fanconi anemia caused by mutations of the FANCG gene. C165258 Cellosaurus Disease Terminology C129026 "Fanconi Anemia, Complementation Group I" "Fanconi Anemia, Complementation Group I" "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein." C165258 Cellosaurus Disease Terminology C129027 "Fanconi Anemia, Complementation Group J" "Fanconi Anemia, Complementation Group J" "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." C165258 Cellosaurus Disease Terminology C164677 "Fanconi Anemia, Complementation Group L" "Fanconi Anemia, Complementation Group L" "Fanconi anemia caused by mutations in the FANCL gene, encoding E3 ubiquitin-protein ligase FANCL." C165258 Cellosaurus Disease Terminology C176894 "Fanconi Anemia, Complementation Group N" "Fanconi Anemia, Complementation Group N" "Fanconi anemia caused by mutation(s) in the PALB2 gene, encoding partner and localizer of BRCA2." C165258 Cellosaurus Disease Terminology C84710 Farber Lipogranulomatosis Farber Lipogranulomatosis "A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability." C165258 Cellosaurus Disease Terminology C176016 "Febrile Seizures, Familial, 3A" "Febrile Seizures, Familial, 3A" "An autosomal dominant condition caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha. It is characterized by isolated febrile seizures, typically with onset between 3 months to 5 years, with spontaneous remission by 6 years of age. Mutation(s) in the SCN1A gene are also responsible for generalized epilepsy with febrile seizures plus, type 2; and Dravet syndrome." C165258 Cellosaurus Disease Terminology C134559 Feline Bronchioloalveolar Lung Carcinoma Feline Bronchioloalveolar Lung Carcinoma Bronchioloalveolar lung carcinoma that occurs in a cat. C165258 Cellosaurus Disease Terminology C134770 Feline Erythroleukemia Feline Erythroleukemia Erythroleukemia that occurs in a cat. C165258 Cellosaurus Disease Terminology C134560 Feline Fibrosarcoma Feline Fibrosarcoma Fibrosarcoma that occurs in a cat. C165258 Cellosaurus Disease Terminology C157503 Feline Histiocytic Sarcoma Feline Histiocytic Sarcoma Histiocytic sarcoma occurring in a cat. C165258 Cellosaurus Disease Terminology C135724 Feline Large Granular Lymphocyte Lymphoma Feline Large Granular Lymphocyte Lymphoma A T-cell leukemia in which there is a persistent increase in the number of large granular lymphocytes in the peripheral blood and occurring in a cat. C165258 Cellosaurus Disease Terminology C132193 Feline Lymphoma Feline Lymphoma A lymphoma that occurs in cats. It is associated with exposure to feline leukemia virus and feline immunodeficiency virus. C165258 Cellosaurus Disease Terminology C132274 Feline Mammary Carcinoma Feline Mammary Carcinoma Mammary carcinoma occurring in a cat. C165258 Cellosaurus Disease Terminology C156362 Feline Melanoma Feline Melanoma "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes that occurs in a cat." C165258 Cellosaurus Disease Terminology C132824 Feline Oral Squamous Cell Carcinoma Feline Oral Squamous Cell Carcinoma Oral squamous cell carcinoma that occurs in a cat. C165258 Cellosaurus Disease Terminology C132825 Feline Osteosarcoma Feline Osteosarcoma Osteosarcoma that occurs in a cat. C165258 Cellosaurus Disease Terminology C176702 Feline Progressive Histiocytosis Feline Progressive Histiocytosis "A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis." C165258 Cellosaurus Disease Terminology C135008 Feline Reticulum Cell Sarcoma Feline Reticulum Cell Sarcoma Reticulum cell sarcoma that occurs in a cat. C165258 Cellosaurus Disease Terminology C181658 Feline Synovial Cell Sarcoma Feline Synovial Cell Sarcoma Synovial cell sarcoma occurring in a cat. C165258 Cellosaurus Disease Terminology C129071 Fetal Akinesia Deformation Sequence Fetal Akinesia Deformation Sequence "Pena-Shokeir syndrome, Type 1" "A condition characterized by fetal akinesia and intrauterine growth restriction, that may be associated with mutation(s) in the RAPSN or DOK7 genes, encoding 43 kDa receptor-associated protein of the synapse and protein Dok-7, respectively." C165258 Cellosaurus Disease Terminology C4322 Fibrillary Astrocytoma Fibrillary Astrocytoma "The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)" C165258 Cellosaurus Disease Terminology C7075 Fibroblastic Neoplasm Fibroblastic Neoplasm Fibroblastic Tumor || Fibrocytic Neoplasm || Fibrocytic Tumor || Fibrogenic Neoplasm || FibrogenicTumor || Fibrous Neoplasm || Fibrous Tumor "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." C165258 Cellosaurus Disease Terminology C3040 Fibrodysplasia Ossificans Progressiva Fibrodysplasia Ossificans Progressiva Myositis Ossificans Progressiva A condition in which there is progressive heterotopic bone formation of the tendons and muscles. C165258 Cellosaurus Disease Terminology C84714 Fibromuscular Dysplasia Fibromuscular Dysplasia A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation. C165258 Cellosaurus Disease Terminology C3043 Fibrosarcoma Fibrosarcoma A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. C165258 Cellosaurus Disease Terminology C186787 Fibrotic Hypersensitivity Pneumonitis Fibrotic Hypersensitivity Pneumonitis Interstitial lung fibrosis resulting from chronic hypersensitivity pneumonitis. C165258 Cellosaurus Disease Terminology C34609 Fibrous Dysplasia Fibrous Dysplasia Fibrous Dysplasia of Bone "A benign medullary neoplasm characterized by the presence of poorly organized and inadequately mineralized bone and intervening fibrous tissue, in varying proportions. It can be monostotic or polyostotic. The skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures. GNAS activating mutations are detected in the majority of cases." C165258 Cellosaurus Disease Terminology C135006 Fish Melanoma Fish Melanoma Melanoma that occurs in a fish. C165258 Cellosaurus Disease Terminology C175241 Floating-Harbor Syndrome Floating-Harbor Syndrome "An autosomal dominant condition caused by mutation(s) in the SRCAP gene, encoding helicase SRCAP. It is characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features." C165258 Cellosaurus Disease Terminology C129873 Floor of Mouth Basaloid Squamous Cell Carcinoma Floor of Mouth Basaloid Squamous Cell Carcinoma Floor of Mouth BSCC An aggressive variant of squamous cell carcinoma that arises from the floor of the mouth. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading. C165258 Cellosaurus Disease Terminology C4041 Floor of Mouth Squamous Cell Carcinoma Floor of Mouth Squamous Cell Carcinoma Floor of Mouth SCC || SCC of Floor of Mouth || SCC of the Floor of Mouth || Squamous Cell Carcinoma of Floor of Mouth || Squamous Cell Carcinoma of the Floor of Mouth A squamous cell carcinoma of the oral cavity that arises from the floor of the mouth. C165258 Cellosaurus Disease Terminology C37308 Focal Segmental Glomerulosclerosis Focal Segmental Glomerulosclerosis FSGS - Focal Segmental Glomerulosclerosis "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure." C165258 Cellosaurus Disease Terminology C3209 Follicular Lymphoma Follicular Lymphoma Follicle Center Lymphoma || Follicular Non-Hodgkin Lymphoma || Follicular Non-Hodgkin's Lymphoma "A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)." C165258 Cellosaurus Disease Terminology C84717 Fragile X Syndrome Fragile X Syndrome "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." C165258 Cellosaurus Disease Terminology C126566 Fragile X Tremor/Ataxia Syndrome Fragile X Tremor/Ataxia Syndrome FXTAS "An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects males more frequently than females. It is characterized by abnormalities in the cerebellum and white matter. It manifests with intention tremor, ataxia, and cognitive disabilities. The symptoms worsen with age." C165258 Cellosaurus Disease Terminology C118436 Fraser Syndrome Fraser Syndrome Cryptophthalmos-Syndactyly Syndrome "A rare, autosomal recessive inherited disorder caused by mutations in the FRAS1, FREM2, or GRIP1 genes. It is characterized by the presence of cryptophthalmos, cutaneous syndactyly, and genitourinary abnormalities." C165258 Cellosaurus Disease Terminology C84718 Friedreich Ataxia Friedreich Ataxia Friedreich's Ataxia "An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances." C165258 Cellosaurus Disease Terminology C134771 Frog Pronephric Kidney Tumor Frog Pronephric Kidney Tumor A kidney neoplasm of the pronephric cell type that occurs in a frog. C165258 Cellosaurus Disease Terminology C129028 Frontonasal Dysplasia Frontonasal Dysplasia Frontonasal Dysplasia 1 "Frontonasal dysplasia caused by mutations in the ALX3 gene, encoding homeobox protein aristaless-like 3. It is inherited in an autosomal recessive fashion." C165258 Cellosaurus Disease Terminology C84719 Frontotemporal Dementia Frontotemporal Dementia A syndrome caused by progressive degeneration of the frontal or temporal lobes of the brain. It is manifested with personality changes and deterioration of the language skills. C165258 Cellosaurus Disease Terminology C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 "An autosomal dominant condition caused by heterozygous hexanucleotide repeat expansion in a noncoding region of the C9ORF72 gene , encoding guanine nucleotide exchange C9orf72. It is characterized by amyotrophic lateral sclerosis with frontotemporal dementia." C165258 Cellosaurus Disease Terminology C128119 "Fructose-1,6-Bisphosphatase Deficiency" "Fructose-1,6-Bisphosphatase Deficiency" C165258 Cellosaurus Disease Terminology C98932 Fryns Syndrome Fryns Syndrome "A rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations." C165258 Cellosaurus Disease Terminology C84721 Fuchs Endothelial Dystrophy Fuchs Endothelial Dystrophy Fuchs' Endothelial Dystrophy "An autosomal dominant, bilateral, slowly progressive degeneration of corneal endothelial cells with thickening of Descemet's membrane and accumulation of excrescences. It results in corneal edema and loss of vision." C165258 Cellosaurus Disease Terminology C61274 Fucosidosis Fucosidosis "An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances." C165258 Cellosaurus Disease Terminology C168599 GLUT1 Deficiency Syndrome 1 GLUT1 Deficiency Syndrome 1 "A genetic condition usually inherited in an autosomal dominant pattern. It is caused by mutation(s) in the SCL2A1 gene, encoding solute carrier family 2, facilitated glucose transporter member 1. It is characterized by wide phenotypic variability, but may include infantile onset epileptic encephalopathy with delayed development, acquired microcephaly, motor dysfunction, and spasticity." C165258 Cellosaurus Disease Terminology C84739 GM1 Gangliosidosis GM1 Gangliosidosis "An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas." C165258 Cellosaurus Disease Terminology C133084 "GM2-Gangliosidosis, AB Variant" "GM2-Gangliosidosis, AB Variant" "Tay-Sachs Disease, AB Variant" "An autosomal recessive lysosomal storage disease caused by mutation(s) in the GM2A gene, encoding ganglioside GM2 activator. It is characterized by GM2-ganglioside accumulation in tissues resulting in hypotonia, cherry-red macular spots, and neurocognitive dysfunction." C165258 Cellosaurus Disease Terminology C141442 GTP Cyclohydrolase I Deficiency GTP Cyclohydrolase I Deficiency GTPCH Deficiency "An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia." C165258 Cellosaurus Disease Terminology C165531 Gabriele-de Vries Syndrome Gabriele-de Vries Syndrome "An autosomal dominant condition caused by mutation(s) in the YY1 gene, encoding transcriptional repressor protein YY1. It is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, and variable functional and morphological abnormalities." C165258 Cellosaurus Disease Terminology C36455 Gain of Chromosome 8 Gain of Chromosome 8 A cytogenetic abnormality that refers to the allelic gain of all or part of chromosome 8. C165258 Cellosaurus Disease Terminology C114767 Galactokinase Deficiency Galactokinase Deficiency GALK Deficiency || Galactosemia Type 2 An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life. C165258 Cellosaurus Disease Terminology C84723 Galactosemia Galactosemia "An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure." C165258 Cellosaurus Disease Terminology C129928 Galactosialidosis Galactosialidosis Goldberg Syndrome || Neuraminidase Deficiency with Beta-Galactosidase Deficiency "An autosomal recessive lysosomal storage disease caused by mutation(s) in the CTSA gene, encoding lysosomal protective protein. It is characterized by a combined deficiency of neuraminidase and beta-galactosidase." C165258 Cellosaurus Disease Terminology C9166 Gallbladder Adenocarcinoma Gallbladder Adenocarcinoma Adenocarcinoma of Gallbladder || Adenocarcinoma of the Gallbladder "An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma." C165258 Cellosaurus Disease Terminology C7356 Gallbladder Adenosquamous Carcinoma Gallbladder Adenosquamous Carcinoma Adenosquamous Carcinoma of Gallbladder || Adenosquamous Carcinoma of the Gallbladder A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components. C165258 Cellosaurus Disease Terminology C3844 Gallbladder Carcinoma Gallbladder Carcinoma Cancer of Gallbladder || Cancer of the Gallbladder || Carcinoma of Gallbladder || Carcinoma of the Gallbladder || Gallbladder Cancer "A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur." C165258 Cellosaurus Disease Terminology C9167 Gallbladder Undifferentiated Carcinoma Gallbladder Undifferentiated Carcinoma Anaplastic Carcinoma of Gallbladder || Anaplastic Carcinoma of the Gallbladder || Anaplastic Gallbladder Carcinoma || Undifferentiated Carcinoma of Gallbladder || Undifferentiated Carcinoma of the Gallbladder || Undifferentiated Gallbladder Carcinoma A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma. C165258 Cellosaurus Disease Terminology C132195 Galloway-Mowat Syndrome Galloway-Mowat Syndrome GAMOS "An autosomal recessive neurodegenerative condition caused by mutation(s) in the WDR73 gene, encoding WD repeat-containing protein 73. It is characterized by microcephaly and severely delayed psychomotor development." C165258 Cellosaurus Disease Terminology C44386 Gamma Radiation Gamma Radiation Gamma || Gamma Ray "High-energy, short wavelength, ionizing electromagnetic radiation emitted from the nucleus. Gamma radiation frequently accompanies alpha and beta emissions and always accompanies fission. Gamma rays are very penetrating and are best stopped or shielded by dense materials, such as lead or depleted uranium. Gamma rays are identical to x-rays and are only differentiated by their origin. (from NRC Glossary)" C165258 Cellosaurus Disease Terminology C3788 Ganglioglioma Ganglioglioma "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)" C165258 Cellosaurus Disease Terminology C3790 Ganglioneuroblastoma Ganglioneuroblastoma "A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." C165258 Cellosaurus Disease Terminology C6728 Gardner Syndrome Gardner Syndrome Gardner's Syndrome "A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene." C165258 Cellosaurus Disease Terminology C4004 Gastric Adenocarcinoma Gastric Adenocarcinoma Adenocarcinoma of Stomach || Adenocarcinoma of the Stomach || Stomach Adenocarcinoma "An adenocarcinoma arising from the stomach glandular epithelium. Gastric adenocarcinoma is primarily a disease of older individuals. It most commonly develops after a long period of atrophic gastritis and is strongly associated with Helicobacter pylori infection. The lack of early symptoms often delays the diagnosis of gastric cancer. The majority of patients present with advanced tumors which have poor rates of curability. Microscopically, two important histologic types of gastric adenocarcinoma are recognized: the intestinal and diffuse type. The overall prognosis of gastric adenocarcinomas is poor, even in patients who receive a ""curative"" resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999)." C165258 Cellosaurus Disease Terminology C5474 Gastric Adenosquamous Carcinoma Gastric Adenosquamous Carcinoma Adenosquamous Carcinoma of Stomach || Adenosquamous Carcinoma of the Stomach A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation. C165258 Cellosaurus Disease Terminology C4911 Gastric Carcinoma Gastric Carcinoma Cancer of Stomach || Cancer of the Stomach || Carcinoma of Stomach || Carcinoma of the Stomach || Gastric Cancer || Stomach Cancer || Stomach Carcinoma "A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium." C165258 Cellosaurus Disease Terminology C95749 Gastric Choriocarcinoma Gastric Choriocarcinoma A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases. C165258 Cellosaurus Disease Terminology C9159 Gastric Diffuse Adenocarcinoma Gastric Diffuse Adenocarcinoma Adenocarcinoma of Linitis Plastica Type || Adenocarcinoma of the Linitis Plastica Type || Diffuse Adenocarcinoma of Stomach || Diffuse Adenocarcinoma of the Stomach || Diffuse Stomach Adenocarcinoma "An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration." C165258 Cellosaurus Disease Terminology C8398 Gastric Fundus Carcinoma Gastric Fundus Carcinoma Cancer of Fundus of Stomach || Cancer of Gastric Fundus || Cancer of the Fundus of the Stomach || Cancer of the Gastric Fundus || Carcinoma of Fundus of Stomach || Carcinoma of Gastric Fundus || Carcinoma of the Fundus of the Stomach || Carcinoma of the Gastric Fundus || Gastric Fundus Cancer A carcinoma that arises from the fundus of the stomach. C165258 Cellosaurus Disease Terminology C95747 Gastric Hepatoid Adenocarcinoma Gastric Hepatoid Adenocarcinoma A rare adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of large polygonal malignant cells with eosinophilic cytoplasm resembling hepatocytes. C165258 Cellosaurus Disease Terminology C27200 Gastric Leiomyosarcoma Gastric Leiomyosarcoma "An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells." C165258 Cellosaurus Disease Terminology C5248 Gastric Mucinous Adenocarcinoma Gastric Mucinous Adenocarcinoma Mucinous Adenocarcinoma of Stomach || Mucinous Adenocarcinoma of the Stomach || Mucinous Gastric Adenocarcinoma || Mucinous Stomach Adenocarcinoma A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools. C165258 Cellosaurus Disease Terminology C5250 Gastric Signet Ring Cell Adenocarcinoma Gastric Signet Ring Cell Adenocarcinoma Gastric Signet Ring Cell Adenocarcinoma || Gastric Signet-Ring Cell Adenocarcinoma || Signet Ring Cell Adenocarcinoma of Stomach || Signet Ring Cell Adenocarcinoma of the Stomach || Signet Ring Cell Gastric Adenocarcinoma || Signet Ring Cell Stomach Adenocarcinoma A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin. C165258 Cellosaurus Disease Terminology C6764 Gastric Small Cell Carcinoma Gastric Small Cell Neuroendocrine Carcinoma Gastric Small Cell Carcinoma || Small Cell Carcinoma of Stomach || Small Cell Carcinoma of the Stomach "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." C165258 Cellosaurus Disease Terminology C5473 Gastric Tubular Adenocarcinoma Gastric Tubular Adenocarcinoma Tubular Adenocarcinoma of Stomach || Tubular Adenocarcinoma of the Stomach A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules. C165258 Cellosaurus Disease Terminology C5476 Gastric Undifferentiated Carcinoma Gastric Undifferentiated Carcinoma Anaplastic Carcinoma of Stomach || Anaplastic Carcinoma of the Stomach || Anaplastic Gastric Carcinoma || Undifferentiated Carcinoma of Stomach || Undifferentiated Carcinoma of the Stomach || Undifferentiated Gastric Carcinoma A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation. C165258 Cellosaurus Disease Terminology C9296 Gastroesophageal Junction Adenocarcinoma Gastroesophageal Junction Adenocarcinoma Adenocarcinoma of Cardioesophageal Junction || Adenocarcinoma of Gastroesophageal Junction || Adenocarcinoma of the Cardioesophageal Junction || Adenocarcinoma of the EG Junction || Adenocarcinoma of the Esophagogastric Junction || Adenocarcinoma of the GE Junction || Adenocarcinoma of the Gastroesophageal Junction "An adenocarcinoma that arises from and straddles the junction of the stomach and esophagus. The category of adenocarcinomas of the gastroesophageal junction also includes the majority of adenocarcinomas previously called gastric cardia adenocarcinomas. Squamous cell carcinomas that affect or cross the junction of the stomach and esophagus are classified as carcinomas of the distal esophagus. Adenocarcinoma of the gastroesophageal junction occurs more often in Caucasian middle aged and elderly males. Clinical signs and symptoms include dysphagia, abdominal pain, and weight loss. The prognosis depends on the completeness of the surgical resection, the number of lymph nodes involved by cancer, and the presence or absence of postoperative complications. The presence of TP53 mutations indicates worse prognosis." C165258 Cellosaurus Disease Terminology C126323 Gastroesophageal Junction Large Cell Neuroendocrine Carcinoma Gastroesophageal Junction Large Cell Neuroendocrine Carcinoma "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gastroesophageal junction. It is characterized by the presence of malignant large cells." C165258 Cellosaurus Disease Terminology C3868 Gastrointestinal Stromal Tumor Gastrointestinal Stromal Tumor Gastrointestinal Stromal Neoplasm "A stromal tumor most commonly seen in the gastrointestinal tract. Rare cases of solitary masses in the omentum or the mesentery have also been reported (extragastrointestinal gastrointestinal stromal tumor). It is a tumor that differentiates along the lines of interstitial cells of Cajal. Most cases contain KIT- or PDGFRA-activating mutations. Until recently, surgery has been the only effective therapy for this tumor. However, many patients still experience recurrence. Conventional chemotherapy and radiation therapy have been of limited value. A KIT tyrosine kinase inhibitor, imatinib mesylate (also known as STI-571 or Gleevec), is now effective in the treatment of relapsed and unresectable cases." C165258 Cellosaurus Disease Terminology C61268 Gaucher Disease Gaucher Disease "An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia." C165258 Cellosaurus Disease Terminology C142805 Gelatinous Drop-Like Corneal Dystrophy Gelatinous Drop-Like Corneal Dystrophy "An autosomal recessive corneal dystrophy caused by mutation(s) in the TACSTD2 gene, encoding tumor-associated calcium signal transducer 2. It is characterized by severe corneal amyloidosis that may result in blindness." C165258 Cellosaurus Disease Terminology C128805 Generalized Arterial Calcification of Infancy 1 Generalized Arterial Calcification of Infancy 1 "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." C165258 Cellosaurus Disease Terminology C3021 Generalized Epilepsy Generalized Epilepsy A chronic condition characterised by recurrent generalised seizures. C165258 Cellosaurus Disease Terminology C140264 Genetic Macular Dystrophy Genetic Macular Dystrophy Macular dystrophy that is related to a change in a gene. C165258 Cellosaurus Disease Terminology C134561 Gerbil Fibroma Gerbil Fibroma Fibroma that occurs in a gerbil. C165258 Cellosaurus Disease Terminology C134772 Gerbil Fibrosarcoma Gerbil Fibrosarcoma Fibrosarcoma that occurs in a gerbil. C165258 Cellosaurus Disease Terminology C134773 Gerbil Melanoma Gerbil Melanoma Melanoma that occurs in a gerbil. C165258 Cellosaurus Disease Terminology C84727 Gerstmann-Straussler-Scheinker Disease Gerstmann-Straussler-Scheinker Disease "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." C165258 Cellosaurus Disease Terminology C4646 Gestational Choriocarcinoma Gestational Choriocarcinoma "A rare, highly malignant epithelial tumor that develops from a hydatidiform mole (50%), following abortion (25%), or during normal pregnancy (22%). It is characterized by the presence of invasive and anaplastic trophoblastic tissue composed of intermediate trophoblastic cells, cytotrophoblasts and syncytiotrophoblasts, abundant vascularity, and secretion of human chorionic gonadotropin. Because of rapid growth and a high propensity for hemorrhage, this neoplasm often constitutes a medical emergency." C165258 Cellosaurus Disease Terminology C84728 Giant Axonal Neuropathy Giant Axonal Neuropathy "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." C165258 Cellosaurus Disease Terminology C4325 Giant Cell Glioblastoma Giant Cell Glioblastoma "A rare histological variant of glioblastoma with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" C165258 Cellosaurus Disease Terminology C121932 Giant Cell Tumor of Bone Giant Cell Tumor of Bone Giant Cell Tumor of the Bone "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." C165258 Cellosaurus Disease Terminology C4234 Giant Congenital Nevus Giant Congenital Nevus Bathing Trunk Nevus || Giant Pigmented Nevus of Skin || Giant Pigmented Nevus of the Skin "A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors." C165258 Cellosaurus Disease Terminology C134774 Gibbon Lymphosarcoma Gibbon Lymphosarcoma Lymphosarcoma that occurs in a gibbon. C165258 Cellosaurus Disease Terminology C129289 Gingival Spindle Cell Carcinoma Gingival Spindle Cell Carcinoma A poorly differentiated squamous cell carcinoma that arises from the gingiva. It is characterized by the presence of malignant pleomorphic spindle cells. C165258 Cellosaurus Disease Terminology C129857 Gingival Squamous Cell Carcinoma Gingival Squamous Cell Carcinoma Gingival SCC A squamous cell carcinoma that arises from the gingival mucosa. It presents as an ulcerated lesion or exophytic mass. The prognosis is usually poor. C165258 Cellosaurus Disease Terminology C84730 Gitelman Syndrome Gitelman Syndrome "An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia." C165258 Cellosaurus Disease Terminology C26782 Glaucoma Glaucoma Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. C165258 Cellosaurus Disease Terminology C3058 Glioblastoma Glioblastoma GBM (Glioblastoma) "The most malignant astrocytic tumor (WHO grade 4). It is composed of poorly differentiated neoplastic astrocytes and is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation, and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. (Adapted from WHO)" C165258 Cellosaurus Disease Terminology C92550 Glioneuronal Tumor with Neuropil-Like Islands Glioneuronal Tumor with Neuropil-Like Islands "A rare, WHO grade II or III infiltrating astrocytoma characterized by the presence of sharply demarcated foci, composed of a neuropil-like matrix." C165258 Cellosaurus Disease Terminology C3796 Gliosarcoma Gliosarcoma Glioblastoma with a Sarcomatous Component A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO). C165258 Cellosaurus Disease Terminology C158500 Globozoospermia Globozoospermia A rare but severe cause of male infertility. It is characterized by the presence of 100% round headed spermatozoa and lack of acrosomes. C165258 Cellosaurus Disease Terminology C187984 Glomerulopathy with Fibronectin Deposits-2 Glomerulopathy with Fibronectin Deposits-2 "An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the FN1 gene, encoding fibronectin. It is characterized by microscopic hematuria, proteinuria and hypertension resulting in end-stage renal disease." C165258 Cellosaurus Disease Terminology C3060 Glomus Tumor Glomus Tumor Glomus Neoplasm A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities. C165258 Cellosaurus Disease Terminology C126809 Glucocorticoid Resistance Glucocorticoid Resistance "An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare." C165258 Cellosaurus Disease Terminology C129741 Glucokinase-Associated Diabetes Mellitus Glucokinase-Associated Diabetes Mellitus "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." C165258 Cellosaurus Disease Terminology C98933 Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency G6PD Deficiency An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. C165258 Cellosaurus Disease Terminology C99101 Glutaric Acidemia Type 1 Glutaric Acidemia Type 1 "A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia." C165258 Cellosaurus Disease Terminology C128193 Glutathione Synthetase Deficiency Glutathione Synthetase Deficiency 5-Oxoprolinuria || Pyroglutamic Aciduria "An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is causative in hemolytic anemia due to glutathione synthetase deficiency, with the more severe condition causing elevated urinary concentrations of 5-oxoproline and central nervous system damage in addition to hemolytic anemia." C165258 Cellosaurus Disease Terminology C84937 Glycine Encephalopathy Glycine Encephalopathy Nonketotic Hyperglycinemia "An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures." C165258 Cellosaurus Disease Terminology C84734 Glycogen Storage Disease Type II Glycogen Storage Disease Type II "An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart, skeletal muscles, liver, and nervous system." C165258 Cellosaurus Disease Terminology C84736 Glycogen Storage Disease Type III Glycogen Storage Disease Type III "An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the glycogen debranching enzyme. It results in the accumulation of structurally abnormal glycogen in the heart, skeletal muscles, and/or liver." C165258 Cellosaurus Disease Terminology C84735 Glycogen Storage Disease Type IIb Glycogen Storage Disease Type IIb Danon Disease A genetic metabolic disorder causing hypertrophic cardiomyopathy. Mutations of the LAMP2 gene have been reported in association with this disease. C165258 Cellosaurus Disease Terminology C84737 Glycogen Storage Disease Type IV Glycogen Storage Disease Type IV "A rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6 transglucosidase." C165258 Cellosaurus Disease Terminology C122662 Glycogen Storage Disease Type IX Glycogen Storage Disease Type IX Phosphorylase Kinase Deficiency Glycogen storage disease usually inherited in an X-linked recessive pattern. It is characterized by a deficiency of hepatic phosphorylase kinase. C165258 Cellosaurus Disease Terminology C162398 Glycogen Storage Disease Type Ia Glycogen Storage Disease Type Ia Glucose-6 Phosphatase Deficiency || Hepatorenal Glycogenosis || Von Gierke Disease "An autosomal recessive condition caused by mutation(s) in the G6PC gene, encoding glucose-6-phosphatase. It is characterized by accumulation of glycogen in the kidneys and liver resulting in hypoglycemia, hyperlipidemia, and hyperuricemia. Adults may have a high incidence of hepatic adenomas." C165258 Cellosaurus Disease Terminology C122661 Glycogen Storage Disease Type Ib Glycogen Storage Disease Type Ib Glycogen Storage Disease Type I non-a "Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate translocase. It may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers." C165258 Cellosaurus Disease Terminology C84738 Glycogen Storage Disease Type V Glycogen Storage Disease Type V "An autosomal recessive inherited type of glycogen storage disease caused by deficiency of myophosphorylase. It results in myalgias, muscle cramping and stiffness, and exercise intolerance." C165258 Cellosaurus Disease Terminology C126875 Glycogen Storage Disease Type VI Glycogen Storage Disease Type VI "An autosomal recessive sub-type of glycogen storage disease caused by mutation(s) in the PYGL gene, encoding glycogen phosphorylase, liver form. The condition is characterized by mild-moderate hypoglycemia, growth retardation and hepatomegaly." C165258 Cellosaurus Disease Terminology C118437 Glycogen Storage Disease Type VII Glycogen Storage Disease Type VII GSD7 || GSDVII || Glycogen Storage Disease VII || Muscle Phosphofructokinase Deficiency || PFKM Deficiency || Phosphofructokinase Deficiency || Tarui Disease "A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness." C165258 Cellosaurus Disease Terminology C168998 Glycogen Storage Disease Type XI Glycogen Storage Disease Type XI Fanconi-Bickel Syndrome || Glycogen Storage Disease Due to GLUT2 Deficiency "Glycogen storage disease caused by mutation(s) in the SLC2A2 gene, encoding solute carrier family 2, facilitated glucose transporter member 2. It is characterized by marked proximal renal tubular dysfunction and hepatorenal glycogen accumulation." C165258 Cellosaurus Disease Terminology C84740 Goldenhar Syndrome Goldenhar Syndrome "A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate." C165258 Cellosaurus Disease Terminology C134562 Goldfish Erythrophoroma Goldfish Erythrophoroma A red-pigmented tumor that occurs in a goldfish. C165258 Cellosaurus Disease Terminology C61420 Gonadal Dysgenesis Gonadal Dysgenesis A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. C165258 Cellosaurus Disease Terminology C113217 Gonadotropin-Dependent Precocious Puberty Gonadotropin-Dependent Precocious Puberty Central Precocious Puberty Premature onset of sexual development triggered by the premature secretion of gonadotropins. C165258 Cellosaurus Disease Terminology C34650 Gout Gout "A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals." C165258 Cellosaurus Disease Terminology C3465 Grade 1 Follicular Lymphoma Grade 1 Follicular Lymphoma Follicular Lymphoma Grade 1 || Grade I Follicular Lymphoma || WHO Follicular Lymphoma Histologic Grade 1 A follicular lymphoma which contains up to 5 centroblasts per 40X high-power microscopic field. C165258 Cellosaurus Disease Terminology C35815 Granulocytic Sarcoma Granulocytic Sarcoma "A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C3064 Granuloma Granuloma Granulomatous Lesion "An inflammatory reaction usually caused by infectious organisms, foreign bodies, or cholesterol deposits. It is characterized by the presence of epithelioid histiocytes and chronic inflammation." C165258 Cellosaurus Disease Terminology C3444 Granulomatosis with Polyangiitis Granulomatosis with Polyangiitis Wegener Granulomatosis || Wegener's Granulomatosis "A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis." C165258 Cellosaurus Disease Terminology C84741 Gray Platelet Syndrome Gray Platelet Syndrome A rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets. C165258 Cellosaurus Disease Terminology C35255 Greig Syndrome Greig Syndrome Greig Cephalopolysyndactyly Syndrome || Greig Cephalosyndactyly Syndrome || Greig's Syndrome "An autosomal dominant genetic disorder caused by mutations in the GLI3 gene. It is characterized by physical abnormalities of the fingers and/or toes (extra fingers and/ or toes, fusion of the fingers and/or toes), large size head with prominent forehead and hypertelorism." C165258 Cellosaurus Disease Terminology C129867 Growth Hormone Insensitivity Syndrome Growth Hormone Insensitivity Syndrome Growth Hormone Insensitivity Syndromes "A group of inherited syndromes in which there is impaired growth hormone signaling, despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty." C165258 Cellosaurus Disease Terminology C134563 Guinea Pig Colon Adenocarcinoma Guinea Pig Colon Adenocarcinoma Adenocarcinoma that occurs in a guinea pig. C165258 Cellosaurus Disease Terminology C134564 Guinea Pig Leukemia Guinea Pig Leukemia Leukemia that occurs in a guinea pig. C165258 Cellosaurus Disease Terminology C3073 Gynecomastia Gynecomastia A non-neoplastic focal or diffuse proliferation of glandular tissue of breast in males. C165258 Cellosaurus Disease Terminology C84744 Gyrate Atrophy Gyrate Atrophy "A rare autosomal recessive inherited disorder caused by mutations in the OAT gene. It is characterized by progressive atrophy of the retina and choroid, leading to loss of vision and blindness." C165258 Cellosaurus Disease Terminology C84764 HFE-Associated Hereditary Hemochromatosis HFE-Associated Hereditary Hemochromatosis "A hereditary disorder of iron metabolism caused by mutations in the HFE gene. It is characterized by increased absorption of iron in the gastrointestinal mucosa. It results in abnormal iron accumulation in the liver, pancreas, skin, joints, heart, and testes. It may lead to skin pigmentation, liver failure, heart failure, and hypogonadism." C165258 Cellosaurus Disease Terminology C84523 HMG-CoA Lyase Deficiency HMG-CoA Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency || 3-OH 3-Methyl Glutaric Aciduria || Hydroxymethylglutaryl-CoA Lyase Deficiency "A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma." C165258 Cellosaurus Disease Terminology C179058 HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis "A progressive neurological disorder resulting in weakness or paralysis of the legs, lower back pain, and urinary symptoms. It is a sequela of infection with the HTLV-1 virus." C165258 Cellosaurus Disease Terminology C7402 Hairy Cell Leukemia Hairy Cell Leukemia Leukemic Reticuloendotheliosis "A neoplasm of small B-lymphocytes with ""hairy"" projections in bone marrow, spleen, and peripheral blood. Most patients present with splenomegaly and pancytopenia. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C7401 Hairy Cell Leukemia Variant Hairy Cell Leukemia Variant Prolymphocytic Variant of Hairy Cell Leukemia "An indolent chronic B-cell leukemia resembling classic hairy cell leukemia but shows variant cytologic, hematologic, and immunophenotypic features and is resistant to the conventional therapy applied to hairy cell leukemia. Biologically, it is not related to hairy cell leukemia." C165258 Cellosaurus Disease Terminology C134990 Hamster Adrenal Carcinoma Hamster Adrenal Carcinoma Carcinoma arising from the adrenal gland and occurring in a hamster. C165258 Cellosaurus Disease Terminology C134565 Hamster Buccal Pouch Carcinoma Hamster Buccal Pouch Carcinoma Buccal pouch carcinoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134566 Hamster Cholangiocarcinoma Hamster Cholangiocarcinoma Cholangiocarcinoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134957 Hamster Chondrosarcoma Hamster Chondrosarcoma A chondrosarcoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134567 Hamster Ductus Deferens Leiomyosarcoma Hamster Ductus Deferens Leiomyosarcoma Ductus deferens leiomyosarcoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134992 Hamster Fibrosarcoma Hamster Fibrosarcoma Fibrosarcoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134946 Hamster Insulinoma Hamster Insulinoma Insulinoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134775 Hamster Kidney Tumor Hamster Kidney Tumor A kidney neoplasm that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134991 Hamster Lung Carcinoma Hamster Lung Carcinoma Carcinoma arising from the lung and occurring in a hamster. C165258 Cellosaurus Disease Terminology C134776 Hamster Lymphoma Hamster Lymphoma Lymphoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134777 Hamster Lymphosarcoma Hamster Lymphosarcoma Lymphosarcoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C135723 Hamster Mammary Carcinoma Hamster Mammary Carcinoma Carcinoma of the mammary gland that occurs in a hamster. C165258 Cellosaurus Disease Terminology C133089 Hamster Melanoma Hamster Melanoma Melanoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134988 Hamster Neoplasm Hamster Neoplasm A neoplasm occurring in a hamster. C165258 Cellosaurus Disease Terminology C133090 Hamster Pancreatic Ductal Adenocarcinoma Hamster Pancreatic Ductal Adenocarcinoma Pancreatic ductal carcinoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C134993 Hamster Pituitary Carcinoma Hamster Pituitary Carcinoma Carcinoma arising in the pituitary gland and occurring in a hamster. C165258 Cellosaurus Disease Terminology C134994 Hamster Small Intestinal Neoplasm Hamster Small Intestinal Neoplasm A neoplasm that occurs in the small intestine of a hamster. C165258 Cellosaurus Disease Terminology C134568 Hamster Uterine Leiomyosarcoma Hamster Uterine Leiomyosarcoma Uterine leiomyosarcoma that occurs in a hamster. C165258 Cellosaurus Disease Terminology C6214 Hard Palate Mucoepidermoid Carcinoma Hard Palate Mucoepidermoid Carcinoma Mucoepidermoid Carcinoma of Hard Palate || Mucoepidermoid Carcinoma of the Hard Palate A mucoepidermoid carcinoma arising from the minor salivary glands in the hard palate. C165258 Cellosaurus Disease Terminology C126559 Hard Skin Syndrome Parana Type Hard Skin Syndrome Parana Type Parana Hard-Skin Syndrome "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." C165258 Cellosaurus Disease Terminology C122660 Hardcastle's Syndrome Hardcastle's Syndrome Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma "A rare, autosomal dominant inherited dysplasia of the long bones, characterized by symmetrical diaphyseal medullary stenosis, bone infarctions, pathologic fractures, and a high risk of development of malignant fibrous histiocytoma." C165258 Cellosaurus Disease Terminology C98934 Harlequin Ichthyosis Harlequin Ichthyosis A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures. C165258 Cellosaurus Disease Terminology C84748 Hartnup Disease Hartnup Disease "An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia." C165258 Cellosaurus Disease Terminology C27191 Hashimoto Thyroiditis Hashimoto Thyroiditis Autoimmune Thyroiditis || Chronic Lymphocytic Thyroiditis || Hashimoto Thyroiditis || Hashimoto's Thyroiditis An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. C165258 Cellosaurus Disease Terminology C37290 Head and Neck Basaloid Carcinoma Head and Neck Basaloid Carcinoma Basaloid Squamous Cell Carcinoma of Head and Neck || Basaloid Squamous Cell Carcinoma of the Head and Neck || Head and Neck Basaloid Squamous Cell Carcinoma "A high-grade, aggressive variant of squamous cell carcinoma that arises from the head and neck region. The most common sites of origin are pyriform sinus, epiglottis, and base of tongue. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading. Comedonecrosis may be present." C165258 Cellosaurus Disease Terminology C34447 Head and Neck Squamous Cell Carcinoma Head and Neck Squamous Cell Carcinoma Squamous Cell Carcinoma of Head and Neck || Squamous Cell Carcinoma of the Head and Neck "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." C165258 Cellosaurus Disease Terminology C3079 Heart Disorder Heart Disorder Heart Disease "A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma." C165258 Cellosaurus Disease Terminology C16098 Helium-Ion Radiation Helium-Ion Radiation C165258 Cellosaurus Disease Terminology C22931 "Hemangioendothelioma of the Mouse Blood Vessel, Malignant" "Hemangioendothelioma of the Mouse Blood Vessel, Malignant" C165258 Cellosaurus Disease Terminology C134958 Hemangioendothelioma of the Mouse Thyroid Gland Hemangioendothelioma of the Mouse Thyroid Gland A neoplasm that arises from vascular endothelium and occurs in the thyroid gland of a mouse. C165258 Cellosaurus Disease Terminology C3085 Hemangioma Hemangioma Angioma || Benign Angioma || Benign Hemangioma A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. C165258 Cellosaurus Disease Terminology C21833 Hemangioma of the Mouse Skin Hemangioma of the Mouse Skin C165258 Cellosaurus Disease Terminology C3087 Hemangiopericytoma An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. C165258 Cellosaurus Disease Terminology C177779 Hemimegalencephaly Hemimegalencephaly Unilateral Megalencephaly A rare congenital condition in which one half of the brain is abnormally large. It is characterized by developmental delay and severe seizures. C165258 Cellosaurus Disease Terminology C103920 Hemoglobin Barts Hemoglobin Barts Hemoglobin Bart's Hydrops "A severe and rare form of alpha thalassemia characterized by the absence of alpha globin chains. It results in hydrops fetalis, severe anemia, hepatosplenomegaly, heart defects, and genitourinary abnormalities. It leads to death in utero or shortly thereafter." C165258 Cellosaurus Disease Terminology C141366 Hemoglobin Lepore Syndrome Hemoglobin Lepore Syndrome "A beta thalassemia resulting from an unequal crossover/recombination event involving portions of the delta and beta globin genes, resulting in underproduction of the abnormal delta-beta globin." C165258 Cellosaurus Disease Terminology C3093 Hemophilia Hemophilia "A deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (hereditary factor VIII deficiency) hemophilia B or Christmas disease (hereditary factor IX deficiency), and hemophilia C (hereditary factor XI deficiency). Factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor VIII deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy." C165258 Cellosaurus Disease Terminology C27146 Hemophilia A Hemophilia A Hereditary Factor VIII Deficiency "An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an X-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births." C165258 Cellosaurus Disease Terminology C26721 Hemophilia B Hemophilia B Factor IX Deficiency An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX. C165258 Cellosaurus Disease Terminology C150596 Hepatic Steatosis Hepatic Steatosis Liver Steatosis A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. C165258 Cellosaurus Disease Terminology C3098 Hepatitis C Infection Hepatitis C Infection HCV Infection || Hepatitis C || Hepatitis C Virus Infection A viral infection caused by the hepatitis C virus. C165258 Cellosaurus Disease Terminology C3728 Hepatoblastoma Hepatoblastoma Pediatric Embryonal Hepatoma || Pediatric Hepatoblastoma "A malignant embryonal neoplasm that arises from the liver. It occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Microscopically, it consists of either epithelial or epithelial and mesenchymal components." C165258 Cellosaurus Disease Terminology C3099 Hepatocellular Carcinoma Hepatocellular Carcinoma Carcinoma of Liver Cells || Carcinoma of the Liver Cells || Hepatoma || Liver Cell Cancer (Hepatocellular Carcinoma) || Liver Cell Carcinoma || Primary Carcinoma of Liver Cells || Primary Carcinoma of the Liver Cells "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." C165258 Cellosaurus Disease Terminology C38756 Hepatocellular Carcinoma of the Mouse Hepatocellular Carcinoma of the Mouse C165258 Cellosaurus Disease Terminology C129742 Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha." C165258 Cellosaurus Disease Terminology C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha." C165258 Cellosaurus Disease Terminology C84754 Hepatoerythropoietic Porphyria Hepatoerythropoietic Porphyria A very rare form of porphyria cutanea tarda. It is characterized by deficiency of the enzyme uroporphyrinogen decarboxylase. Signs and symptoms appear early in childhood and include extreme photosensitivity in the sun exposed areas of the skin with blistering and scar formation. C165258 Cellosaurus Disease Terminology C84756 Hepatolenticular Degeneration Hepatolenticular Degeneration Wilson Disease || Wilson's Disease "A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations." C165258 Cellosaurus Disease Terminology C8459 Hepatosplenic T-Cell Lymphoma Hepatosplenic T-Cell Lymphoma Hepatosplenic Gamma/Delta T-Cell Lymphoma "An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis." C165258 Cellosaurus Disease Terminology C84758 Hereditary Angioedema Hereditary Angioedema "Autosomal dominant inherited disorder characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites." C165258 Cellosaurus Disease Terminology C140268 Hereditary Cerebellar Ataxia Hereditary Cerebellar Ataxia Cerebellar ataxia that is transmitted from parent to child. C165258 Cellosaurus Disease Terminology C84759 Hereditary Coproporphyria Hereditary Coproporphyria "An autosomal dominant inherited disorder of porphyrin metabolism caused by deficiency of the enzyme coproporphyrinogen oxidase. It results in neurologic damage and can include abdominal pain, constipation and psychiatric manifestations." C165258 Cellosaurus Disease Terminology C26799 Hereditary Factor II Deficiency Hereditary Factor II Deficiency Hereditary Hypoprothrombinemia || Hereditary Prothrombin Deficiency "A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding." C165258 Cellosaurus Disease Terminology C98938 Hereditary Factor V Deficiency Hereditary Factor V Deficiency Owren Disease "A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding." C165258 Cellosaurus Disease Terminology C98939 Hereditary Factor VII Deficiency Hereditary Factor VII Deficiency "A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding." C165258 Cellosaurus Disease Terminology C98940 Hereditary Factor X Deficiency Hereditary Factor X Deficiency Stuart-Prower Factor Deficiency "A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor X, resulting in bleeding." C165258 Cellosaurus Disease Terminology C36107 Hereditary Female Breast Carcinoma Hereditary Female Breast Carcinoma Familial Female Breast Carcinoma Breast carcinoma that has developed in female relatives of patients with history of breast carcinoma. C165258 Cellosaurus Disease Terminology C156424 Hereditary Folate Malabsorption Hereditary Folate Malabsorption "An autosomal recessive condition caused by mutation(s) in the SCL46A1 gene, encoding proton-coupled folate transporter. It is characterized by low concentrations of folate resulting in megaloblastic anemia, immune deficiency, and neurologic deficits." C165258 Cellosaurus Disease Terminology C43295 Hereditary Gastric Diffuse Adenocarcinoma Hereditary Gastric Diffuse Adenocarcinoma Hereditary Diffuse Gastric Adenocarcinoma || Hereditary Diffuse Gastric Cancer An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations. C165258 Cellosaurus Disease Terminology C5350 Hereditary Glomangioma Hereditary Glomangioma Familial Glomangioma A familial glomus tumor. C165258 Cellosaurus Disease Terminology C35064 Hereditary Hemorrhagic Telangiectasia Hereditary Hemorrhagic Telangiectasia "Osler-Weber-Rendu Disease || Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler" "An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas." C165258 Cellosaurus Disease Terminology C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma Hereditary Leiomyomatosis and Renal Cell Carcinoma FH Deficiency || Hereditary Leiomyomatosis and Renal Cell Cancer || Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome "An autosomal dominant inherited syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to renal cell carcinoma, leiomyomas of the skin and uterus, and leiomyosarcoma of the uterus." C165258 Cellosaurus Disease Terminology C8498 Hereditary Melanoma Hereditary Melanoma "Familial Cutaneous Melanoma || Familial Melanoma || Hereditary Cutaneous Melanoma || Melanoma, Familial" "A melanoma defined by the presence of multiple cases of cutaneous melanoma among blood-relatives on the same side of the family. It is caused by germline mutations in the CDKN2A or CDK4 genes. It is associated with an increased risk of pancreatic cancer in a subset of CDKN2A families (WHO, 2006)." C165258 Cellosaurus Disease Terminology C5183 Hereditary Multiple Exostoses Hereditary Multiple Exostoses "Hereditary disorder transmitted by autosomal dominant genes (EXT1-3) and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation." C165258 Cellosaurus Disease Terminology C120083 Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Familial Nonpolyposis Colorectal Cancer Syndrome || Hereditary Nonpolyposis Colorectal Cancer "An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers. It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes." C165258 Cellosaurus Disease Terminology C34864 Hereditary Optic Atrophy Hereditary Optic Atrophy A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. C165258 Cellosaurus Disease Terminology C98944 Hereditary Orotic Aciduria Hereditary Orotic Aciduria "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." C165258 Cellosaurus Disease Terminology C43298 Hereditary Pancreatic Carcinoma Hereditary Pancreatic Carcinoma Familial Pancreatic Cancer || Familial Pancreatic Carcinoma || Hereditary Pancreatic Cancer "A carcinoma that arises from the pancreas in a patient with a family history of pancreatic cancer. In the minority of cases, patients have recognized genetic syndromes (e.g., FAMMM syndrome, BRCA2 syndrome, Peutz-Jeghers syndrome) however, in the majority of cases the genetic cause has not been identified." C165258 Cellosaurus Disease Terminology C129072 Hereditary Persistence of Fetal Hemoglobin Hereditary Persistence of Fetal Hemoglobin "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin." C165258 Cellosaurus Disease Terminology C140267 Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia Spastic paraplegia that is transmitted from parent to child. C165258 Cellosaurus Disease Terminology C97074 Hereditary Spherocytosis Hereditary Spherocytosis "An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly." C165258 Cellosaurus Disease Terminology C46099 Hereditary Thyroid Gland Medullary Carcinoma Hereditary Thyroid Gland Medullary Carcinoma Familial Thyroid Gland Medullary Carcinoma A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b). C165258 Cellosaurus Disease Terminology C165489 Hereditary Transthyretin Amyloid Cardiomyopathy Hereditary Transthyretin Amyloid Cardiomyopathy hATTR-CM "Transthyretin amyloid cardiomyopathy caused by mutation(s) in the TTR gene, encoding transthyretin." C165258 Cellosaurus Disease Terminology C121945 Heritable Pulmonary Arterial Hypertension Heritable Pulmonary Arterial Hypertension HPAH "A rare, progressive, autosomal dominant inherited disorder. It is caused by mutation in the BMPR2 gene in most cases. It is characterized by abnormally high blood pressure in the pulmonary artery, caused by obstruction and obliteration of the small pulmonary arteries." C165258 Cellosaurus Disease Terminology C150367 Hermansky-Pudlak Syndrome 1 Hermansky-Pudlak Syndrome 1 "An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS1 gene, encoding Hermansky-Pudlak syndrome 1 protein. This sub-type is associated with pulmonary fibrosis." C165258 Cellosaurus Disease Terminology C150368 Hermansky-Pudlak Syndrome 2 Hermansky-Pudlak Syndrome 2 "An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the AP3B1, encoding AP-3 complex subunit beta-1. Immunodeficiency due to neutropenia is a characteristic of this sub-type." C165258 Cellosaurus Disease Terminology C150369 Hermansky-Pudlak Syndrome 6 Hermansky-Pudlak Syndrome 6 "An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS6 gene, encoding Hermansky-Pudlak syndrome 6 protein. Individuals with this type of syndrome, as well as with types 3 or 5, have the mildest symptoms." C165258 Cellosaurus Disease Terminology C84762 Herpes Simplex Encephalitis Herpes Simplex Encephalitis "A serious viral disorder characterized by infection of the brain by herpes simplex virus type 1 or 2. Herpes simplex virus type 1 affects adults, whereas herpes simplex virus type 2 affects newborns. Signs and symptoms include fever, headaches, vomiting, seizures and psychiatric manifestations." C165258 Cellosaurus Disease Terminology C3702 Hibernoma Hibernoma Brown Fat Neoplasm || Brown Fat Tumor || Fetal Fat Cell Lipoma "A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults." C165258 Cellosaurus Disease Terminology C168987 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 High Density Lipoprotein Cholesterol Level QTL6 A lipid transport disorder characterized by extremely elevated levels of high density lipoprotein cholesterol (HDL C; HDLC). It is caused by heterozygous mutations in the SCARB1 gene that result in decreased transport of HCL C into the liver by scavenger receptor class B member 1. C165258 Cellosaurus Disease Terminology C125904 High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements DH Lymphoma || Double Hit Lymphoma || Double-Hit Lymphoma || High-Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements "A rare B-cell non-Hodgkin lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis." C165258 Cellosaurus Disease Terminology C131913 "High Grade B-Cell Lymphoma with MYC, BCL2, and BCL6 Rearrangements" "High Grade B-Cell Lymphoma with MYC, BCL2, and BCL6 Rearrangements" "High-Grade B-Cell Lymphoma with MYC, BCL2, and BCL6 Rearrangements || Triple Hit Lymphoma || Triple-Hit Lymphoma" "A rare B-cell non-Hodgkin lymphoma that is characterized by the abnormal rearrangement of MYC gene, BCL2 gene, and BCL6 gene. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis." C165258 Cellosaurus Disease Terminology C80291 "High Grade B-Cell Lymphoma, Not Otherwise Specified" "High Grade B-Cell Lymphoma, Not Otherwise Specified" "High Grade B-Cell Lymphoma, NOS || High-Grade B-Cell Lymphoma, NOS || High-Grade B-Cell Lymphoma, Not Otherwise Specified" "A high grade B-cell lymphoma with blastoid features or features between diffuse large B-cell lymphoma and Burkitt lymphoma which lacks MYC, BCL2, and BCL6 rearrangements." C165258 Cellosaurus Disease Terminology C105555 High Grade Ovarian Serous Adenocarcinoma Ovarian High Grade Serous Adenocarcinoma High Grade Ovarian Serous Adenocarcinoma || High-Grade Ovarian Serous Adenocarcinoma || Ovarian High-Grade Serous Adenocarcinoma A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures. C165258 Cellosaurus Disease Terminology C36077 Hilar Cholangiocarcinoma Hilar Cholangiocarcinoma Hilar CC || Klatskin Tumor || Perihilar Cholangiocarcinoma "A carcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." C165258 Cellosaurus Disease Terminology C6423 Hindgut Carcinoid Tumor Hindgut Neuroendocrine Tumor G1 Hindgut Carcinoid Tumor "A neuroendocrine tumor grade 1 that arises from the sigmoid colon, descending colon, or rectum." C165258 Cellosaurus Disease Terminology C34700 Hirschsprung Disease Hirschsprung Disease Aganglionic Megacolon || Hirschsprung's Disease A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon. C165258 Cellosaurus Disease Terminology C27349 Histiocytic Sarcoma Histiocytic Sarcoma "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." C165258 Cellosaurus Disease Terminology C35765 Histiocytoma Histiocytoma A mesenchymal tumor composed of fibroblastic and histiocytic cells. C165258 Cellosaurus Disease Terminology C9357 Hodgkin Lymphoma Hodgkin Lymphoma Hodgkin's Disease || Hodgkin's Lymphoma "A lymphoma, previously known as Hodgkin's disease, characterized by the presence of large tumor cells in an abundant admixture of nonneoplastic cells. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." C165258 Cellosaurus Disease Terminology C98842 Holocarboxylase Synthetase Deficiency Holocarboxylase Synthetase Deficiency Multiple Carboxylase Deficiency "A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma." C165258 Cellosaurus Disease Terminology C74988 Holoprosencephaly Holoprosencephaly "A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures." C165258 Cellosaurus Disease Terminology C125592 Holt-Oram Syndrome Holt-Oram Syndrome "A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs and heart abnormalities." C165258 Cellosaurus Disease Terminology C84765 Homocystinuria Homocystinuria "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." C165258 Cellosaurus Disease Terminology C142173 "Homocystinuria-Megaloblastic Anemia, cblE Complementation Type" "Homocystinuria-Megaloblastic Anemia, cblE Complementation Type" "Methylcobalamin Deficiency, cblE Type" "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." C165258 Cellosaurus Disease Terminology C134778 Horse Lymphoma Horse Lymphoma Lymphoma that occurs in a horse. C165258 Cellosaurus Disease Terminology C134569 Horse Melanoma Horse Melanoma Melanoma that occurs in a horse. C165258 Cellosaurus Disease Terminology C134995 Horse Sarcoid Horse Sarcoid A fibroblastic tumor that occurs in the skin of a horse. C165258 Cellosaurus Disease Terminology C173624 Horse Transitional Cell Carcinoma Horse Transitional Cell Carcinoma Transitional cell carcinoma that occurs in a horse. C165258 Cellosaurus Disease Terminology C27676 Human Papillomavirus-Related Cervical Squamous Cell Carcinoma Human Papillomavirus-Related Cervical Squamous Cell Carcinoma HPV-Associated Cervical Squamous Cell Carcinoma || HPV-Related Cervical Squamous Cell Carcinoma || HPVA Cervical Squamous Cell Carcinoma || Human Papilloma Virus Related Cervical Squamous Cell Carcinoma || Human Papilloma Virus-Related Cervical Squamous Cell Carcinoma || Human Papillomavirus-Associated Cervical Squamous Cell Carcinoma A cervical squamous cell carcinoma associated with human papillomavirus infection. C165258 Cellosaurus Disease Terminology C27677 Human Papillomavirus-Related Endocervical Adenocarcinoma Human Papillomavirus-Related Cervical Adenocarcinoma HPV-Related Endocervical Adenocarcinoma || HPVA Cervical Adenocarcinoma || Human Papilloma Virus Related Endocervical Adenocarcinoma || Human Papilloma Virus-Related Endocervical Adenocarcinoma || Human Papillomavirus- Associated Endocervical Adenocarcinoma || Human Papillomavirus-Associated Cervical Adenocarcinoma || Human Papillomavirus-Related Endocervical Adenocarcinoma A cervical adenocarcinoma associated with the presence of human papillomavirus infection. C165258 Cellosaurus Disease Terminology C61260 Hunter Syndrome Hunter Syndrome Mucopolysaccharidosis Type II "An X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects males and is characterized by the accumulation of mucopolysaccharides in various organs, resulting in mental dysfunction, enlarged abdomen, hearing loss, obstructive airway disease, heart disease, and hepatosplenomegaly." C165258 Cellosaurus Disease Terminology C82342 Huntington's Disease Huntington's Disease Huntington Disease || Huntington's Chorea "A progressive hereditary neurodegenerative disorder inherited in an autosomal dominant fashion. Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance problems, difficulty walking, talking, or swallowing. The disease has a progressive course with a decline in mental abilities, and the development of psychiatric problems." C165258 Cellosaurus Disease Terminology C61261 Hurler Syndrome Hurler Syndrome Mucopolysaccharidosis Type IH An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues. C165258 Cellosaurus Disease Terminology C122782 Hurler-Scheie Syndrome Hurler-Scheie Syndrome "An autosomal recessive disorder representing the intermediate form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include short stature, cloudy cornea, umbilical hernia, joint stiffening, hepatosplenomegaly, and mental retardation." C165258 Cellosaurus Disease Terminology C3110 Hydatidiform Mole Hydatidiform Mole Hydatid Mole || Molar Pregnancy "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." C165258 Cellosaurus Disease Terminology C84767 Hydrops Fetalis Hydrops Fetalis A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. C165258 Cellosaurus Disease Terminology C148327 HyperCKmia HyperCKmia Isolated HyperCKemia "A condition characterized by elevated concentrations of creatine kinase in the blood. It is one of a group of conditions caused by mutation(s) in the CAV3 gene, encoding caveolin-3. Isolated hyperCKmia has no other associated manifestations." C165258 Cellosaurus Disease Terminology C176014 "Hypercholesterolemia, Familial, 2" "Hypercholesterolemia, Familial, 2" Autosomal Dominant Hypercholesterolemia || Familial Hypercholesterolemia 2 "An autosomal dominant condition caused by mutation(s) in the APOB gene, encoding apolipoprotein B-100. It is characterized by hypercholesterolemia and abnormal low-density lipoproteins." C165258 Cellosaurus Disease Terminology C128114 "Hypercholesterolemia, Familial, 4" "Hypercholesterolemia, Familial, 4" Autosomal Recessive Hypercholesterolemia "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." C165258 Cellosaurus Disease Terminology C124845 Hyperglycerolemia Hyperglycerolemia GKD || Glycerol Kinase Deficiency "A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children." C165258 Cellosaurus Disease Terminology C3144 Hyperimmunoglobulin E Syndrome Hyperimmunoglobulin E Syndrome "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." C165258 Cellosaurus Disease Terminology C84771 "Hyperlipoproteinemia, Type I" "Hyperlipoproteinemia, Type I" Familial Essential Hyperlipemia || Familial Hyperchylomicronemia || Hyperlipoproteinemia Type 1A || Lipoprotein Lipase Deficiency A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood. C165258 Cellosaurus Disease Terminology C123416 "Hyperlipoproteinemia, Type IIa" "Hyperlipoproteinemia, Type IIa" Familial Hypercholesterolemia || Hyperlipidemia Type IIa || Type IIa Hyperlipidemia An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19. C165258 Cellosaurus Disease Terminology C35637 "Hyperlipoproteinemia, Type IIb" "Hyperlipoproteinemia, Type IIb" Familial Combined Hyperlipidemia || Hyperlipidemia Type IIb || Type IIb Hyperlipidemia || Type IIb Hyperlipoproteinemia A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins. C165258 Cellosaurus Disease Terminology C123433 Hyperlysinemia Hyperlysinemia An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems. C165258 Cellosaurus Disease Terminology C129029 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome "An autosomal recessive disorder caused by mutation(s) in the SLC25A15 gene, encoding mitochondrial ornithine transporter 1. The condition is characterized by failure to thrive, liver dysfunction, psychomotor retardation, encephalopathy and seizures." C165258 Cellosaurus Disease Terminology C138171 "Hyperphenylalaninemia, BH4-deficient A" "Hyperphenylalaninemia, BH4-deficient A" 6-pyruvoyl Tetrahydropterin Synthase Deficiency "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." C165258 Cellosaurus Disease Terminology C138173 "Hyperphenylalaninemia, BH4-deficient C" "Hyperphenylalaninemia, BH4-deficient C" Dihydropteridine Reductase Deficiency "An autosomal recessive condition caused by mutation(s) in the QDPR gene, encoding dihydropteridine reductase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." C165258 Cellosaurus Disease Terminology C131851 Hyperphosphatemic Familial Tumoral Calcinosis Hyperphosphatemic Familial Tumoral Calcinosis "An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone." C165258 Cellosaurus Disease Terminology C125593 Hyperpipecolatemia Hyperpipecolatemia Pipecolic Acidemia "A rare, autosomal recessive inherited metabolic disorder characterized by high levels of pipecolic acid in the blood, leading to neuropathy and hepatomegaly." C165258 Cellosaurus Disease Terminology C3113 Hyperplasia Hyperplasia Hyperplastic An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. C165258 Cellosaurus Disease Terminology C3117 Hypertension Hypertension High Blood Pressure || Vascular Hypertensive Disorder Blood pressure that is abnormally high. C165258 Cellosaurus Disease Terminology C34449 Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. C165258 Cellosaurus Disease Terminology C118697 Hypochondroplasia Hypochondroplasia "An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia." C165258 Cellosaurus Disease Terminology C26931 Hypogammaglobulinemia Hypogammaglobulinemia Agammaglobulinemia A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. C165258 Cellosaurus Disease Terminology C9227 Hypogonadism Hypogonadism Hypogonadotropism "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation." C165258 Cellosaurus Disease Terminology C75479 Hypogonadotropic Hypogonadism with Anosmia Hypogonadotropic Hypogonadism with Anosmia Kallmann Syndrome An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia. C165258 Cellosaurus Disease Terminology C78349 Hypomania Hypomania Hypomanic Mood "A less severe form of mania characterized by elevated mood, hyperactivity, and grandiosity. In contrast to mania, these symptoms do not cause significant impairment of the individual's productivity at work, or social and family relationships." C165258 Cellosaurus Disease Terminology C183310 Hypomyelinating Leukodystrophy-6 Hypomyelinating Leukodystrophy-6 Hypomyelination with Atrophy of Basal Ganglia and Cerebellum "A genetic disorder of infancy or early childhood caused by mutation(s) in the TUBB4A gene, encoding the tubulin beta-4A chain. It is characterized by hypomyelination or atrophy of the cerebellum and or putamen leading to delayed motor development, gait instability, and extrapyramidal movement disorders." C165258 Cellosaurus Disease Terminology C180850 Hypomyelinating Leukodystrophy-8 Hypomyelinating Leukodystrophy-8 4H Syndrome || Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome "An autosomal recessive condition caused by mutation(s) in the POLR3B gene, encoding DNA-directed RNA polymerase III subunit RPC2. It is characterized by early onset cerebellar ataxia and mild intellectual disability. Diffuse cerebral hypomyelination and cerebellar atrophy are apparent on MRI. Hypogonadotropic hypogonadism and hypodontia are also features of this condition." C165258 Cellosaurus Disease Terminology C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome Hypoparathyroidism-Retardation-Dysmorphism Syndrome "Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures || Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay || Sanjad-Sakati Syndrome" "An autosomal recessive condition caused by mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. It is characterized by congenital hypoparathyroidism, mental retardation, seizures and developmental delay." C165258 Cellosaurus Disease Terminology C4043 Hypopharyngeal Squamous Cell Carcinoma Hypopharyngeal Squamous Cell Carcinoma Epidermoid Carcinoma of Hypopharynx || Epidermoid Carcinoma of the Hypopharynx || Hypopharyngeal Conventional Squamous Cell Carcinoma || Hypopharyngeal Epidermoid Carcinoma || Squamous Cell Carcinoma of Hypopharynx || Squamous Cell Carcinoma of the Hypopharynx "A squamous cell carcinoma arising from the hypopharynx. Signs and symptoms include dysphagia, hemoptysis, and the presence of a neck mass." C165258 Cellosaurus Disease Terminology C26798 Hypophosphatasia Hypophosphatasia "A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders." C165258 Cellosaurus Disease Terminology C98894 Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome "A rare congenital cardiovascular disorder characterized by severe underdevelopment of the left side of the heart. Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy." C165258 Cellosaurus Disease Terminology C61270 I-Cell Disease I-Cell Disease Inclusion-cell Disease || Mucolipidosis Type II "An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure." C165258 Cellosaurus Disease Terminology C84776 Ichthyosis Ichthyosis "A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe." C165258 Cellosaurus Disease Terminology C179297 Idiopathic Basal Ganglia Calcification Idiopathic Basal Ganglia Calcification Basal ganglia calcification for which no underlying cause can be identified. C165258 Cellosaurus Disease Terminology C129973 Idiopathic Basal Ganglia Calcification 1 Idiopathic Basal Ganglia Calcification 1 Bilateral Striopallidodentate Calcinosis "An autosomal dominant condition caused by mutation(s) in the SLC20A2 gene, encoding sodium-dependent phosphate transporter 2. It is characterized by calcification of the basal ganglia." C165258 Cellosaurus Disease Terminology C35716 Idiopathic Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Chronic and progressive fibrosis of the lung parenchyma of unknown cause. C165258 Cellosaurus Disease Terminology C97119 Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Arterial Hypertension Increased blood pressure in the arteries of the lungs; the etiology is unknown. C165258 Cellosaurus Disease Terminology C3446 Idiopathic Thrombocytopenic Purpura Primary Immune Thrombocytopenia Idiopathic Thrombocytopenia || Idiopathic Thrombocytopenia Purpura || Idiopathic Thrombocytopenic Purpura "Acquired thrombocytopenia of unknown cause, characterized by immune-mediated destruction of normal platelets. It affects both children and adults. It manifests with petechiae, purpura, and overt bleeding. Based upon the duration of the disease, it is classified as newly diagnosed (from diagnosis until 3 months), persistent (3-12 months), and chronic (lasting for more than 12 months)." C165258 Cellosaurus Disease Terminology C34564 Idiopathic Torsion Dystonia Idiopathic Torsion Dystonia Torsion dystonia for which no underlying cause has been identified. C165258 Cellosaurus Disease Terminology C34643 IgA Nephropathy IgA Nephropathy IGA Glomerulonephritis A chronic autoimmune glomerulonephritis characterized by the deposition of immunoglobulin A in the mesangium of the glomeruli. It is manifested with hematuria and mild proteinuria. C165258 Cellosaurus Disease Terminology C8111 Immature Ovarian Teratoma Immature Ovarian Teratoma Grade 2 Ovarian Teratoma || Immature Germ Cell Teratoma of Ovary || Immature Germ Cell Teratoma of the Ovary || Immature Teratoma of Ovary || Immature Teratoma of the Ovary || Ovarian Germ Cell Immature Teratoma || Ovarian Immature Germ Cell Teratoma || Ovarian Immature Teratoma An immature teratoma arising from the ovary. It usually affects females in their first two decades of life. C165258 Cellosaurus Disease Terminology C3507 Immune System Disorder Immune System Disorder A disorder resulting from an abnormality in the immune system. C165258 Cellosaurus Disease Terminology C187988 "Immunodeficiency 14A, Autosomal Dominant" "Immunodeficiency 14A, Autosomal Dominant" Activated PI3K-delta Syndrome "An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood." C165258 Cellosaurus Disease Terminology C84783 Immunodeficiency with Hyper-IgM Immunodeficiency with Hyper-IgM "A genetically heterogenous group of conditions characterized by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an increased risk of infections and development of malignancies." C165258 Cellosaurus Disease Terminology C129074 Immunodeficiency with Hyper-IgM Type 2 Immunodeficiency with Hyper-IgM Type 2 "An autosomal recessive immunodeficiency that is caused by mutation(s) in the AICDA gene, single-stranded DNA cytosine deaminase. It is characterized by normal or elevated concentrations of IgM and decreased or absent concentrations of IgG, IgA, and IgE." C165258 Cellosaurus Disease Terminology C156430 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 "An autosomal recessive condition caused by mutation(s) in the DNMT3B gene, encoding DNA (cytosine-5)-methyltransferase 3B. It is characterized by immunoglobulin deficiency, centromeric instability of chromosomes 1,9, and 19 (rarely chromosome 2), and facial dysmorphism." C165258 Cellosaurus Disease Terminology C123434 Immunoglobulin A Deficiency 1 Immunoglobulin A Deficiency 1 IGAD1 "Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders." C165258 Cellosaurus Disease Terminology C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia." C165258 Cellosaurus Disease Terminology C84786 Inclusion Body Myositis Inclusion Body Myositis An acquired or hereditary chronic inflammatory disorder of the muscles characterized by the morphologic finding of vacuoles and filamentous inclusions in the muscle tissues. C165258 Cellosaurus Disease Terminology C84787 Incontinentia Pigmenti Incontinentia Pigmenti "A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation." C165258 Cellosaurus Disease Terminology C122617 Infant Acute Lymphoblastic Leukemia with MLL Rearrangement Infant Acute Lymphoblastic Leukemia with MLL Rearrangement An acute lymphoblastic leukemia with rearrangement of the MLL (KMT2A) gene that occurs in infancy. C165258 Cellosaurus Disease Terminology C6645 Infantile Hemangioma Infantile Hemangioma Cellular Hemangioma || Infantile Hemangioendothelioma || Juvenile Capillary Hemangioma || Juvenile Hemangioma || Strawberry Nevus A capillary hemangioma that may regress spontaneously. It occurs in infants and children. C165258 Cellosaurus Disease Terminology C158135 Infantile Liver Failure Syndrome 2 Infantile Liver Failure Syndrome 2 "An autosomal recessive condition caused by mutation(s) in the NBAS gene, encoding neuroblastoma-amplified sequence. It is characterized by recurrent episodes of acute liver failure that begin in infancy." C165258 Cellosaurus Disease Terminology C84927 Infantile Neuroaxonal Dystrophy Infantile Neuroaxonal Dystrophy "A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia." C165258 Cellosaurus Disease Terminology C84789 Infantile Refsum Disease Infantile Refsum Disease "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." C165258 Cellosaurus Disease Terminology C157123 Infantile-Onset Multisystem Autoimmune Disease 1 Infantile-Onset Multisystem Autoimmune Disease 1 "An autosomal dominant condition caused by mutation(s) in the STAT3 gene, encoding signal transducer and activator of transcription 3. It is characterized by variable features along a spectrum of autoimmune disorders affecting multiple organs. Common manifestations may include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis." C165258 Cellosaurus Disease Terminology C34726 Infectious Mononucleosis Infectious Mononucleosis "A clinical syndrome of fever, sore throat, fatigue, and lymphadenopathy caused by infection with the Epstein-Barr virus. Subsequent physical findings may include hepatomegaly, palatal petechiae, jaundice, uvular edema, and splenomegaly." C165258 Cellosaurus Disease Terminology C3836 Infertility Infertility Fertility Disorders || Sterility "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues." C165258 Cellosaurus Disease Terminology C39824 "Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant" "Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant" Bladder Carcinosarcoma An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features. C165258 Cellosaurus Disease Terminology C164676 Inflammatory Bowel Disease 28 Inflammatory Bowel Disease 28 "An autosomal recessive condition caused by mutation(s) in the IL10RA gene, encoding interleukin-10 receptor subunit alpha. It is characterized by early-onset chronic relapsing intestinal inflammation." C165258 Cellosaurus Disease Terminology C129974 Inosine Triphosphatase Deficiency Inosine Triphosphatase Deficiency "An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes." C165258 Cellosaurus Disease Terminology C164154 Intellectual Developmental Disorder with Cardiac Arrhythmia Intellectual Developmental Disorder with Cardiac Arrhythmia "An autosomal recessive condition caused by mutation(s) in the GNB5 gene, encoding guanine nucleotide-binding protein subunit beta-5. It is characterized by severe intellectual disability, poor speech acquisition, and cardiac arrhythmia. Biallelic missense mutation in the GNB5 gene can cause language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, which is a less-severe disorder with overlapping features." C165258 Cellosaurus Disease Terminology C183311 "Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type" "Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type" Bain Type of X-linked Syndromic Intellectual Disability "An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females." C165258 Cellosaurus Disease Terminology C97250 Intellectual Disability Intellectual Disability "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group." C165258 Cellosaurus Disease Terminology C9282 Interdigitating Dendritic Cell Sarcoma Interdigitating Dendritic Cell Sarcoma Interdigitating Cell Sarcoma/Tumor || Interdigitating Dendritic Cell Sarcoma/Tumor "A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)" C165258 Cellosaurus Disease Terminology C176806 Interferon Gamma Receptor 1 Deficiency Immunodeficiency 27A Autosomal Recessive IFNGR1 Deficiency || Autosomal Recessive Interferon Gamma Receptor 1 Deficiency || IFNGR1 Deficiency || Interferon Gamma Receptor 1 Deficiency || MSMD due to Complete IFNGR1 Deficiency || MSMD due to Complete IFNgammaR1 Deficiency || Mendelian Susceptibility to Mycobacterial Diseases due to Complete IFNgammaR1 Deficiency "A genetic condition caused by mutation(s) in the IFNGR1 gene, encoding interferon gamma receptor 1, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species." C165258 Cellosaurus Disease Terminology C179709 Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy "An autosomal dominant condition caused by mutation(s) in the KLHL24 gene, encoding kelch-like protein 24. It is characterized by epidermolysis bullosa and dilated cardiomyopathy." C165258 Cellosaurus Disease Terminology C34458 Intracranial Aneurysm Intracranial Aneurysm A congenital or acquired aneurysm within the cranium. C165258 Cellosaurus Disease Terminology C4656 Intracranial Meningioma Intracranial Meningioma A meningioma that arises within the cranial cavity. C165258 Cellosaurus Disease Terminology C35417 Intrahepatic Cholangiocarcinoma Intrahepatic Cholangiocarcinoma Intrahepatic Bile Duct Carcinoma || Intrahepatic Carcinoma of Bile Duct || Intrahepatic Carcinoma of the Bile Duct "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." C165258 Cellosaurus Disease Terminology C84400 Intrahepatic Cholestasis Intrahepatic Cholestasis Impairment of the bile flow caused by obstruction within the liver. C165258 Cellosaurus Disease Terminology C4194 Invasive Breast Carcinoma of No Special Type Invasive Breast Carcinoma of No Special Type "Infiltrating Ductal Adenocarcinoma || Infiltrating Ductal Breast Carcinoma || Infiltrating Ductal Carcinoma || Infiltrating Ductal Carcinoma of Breast || Infiltrating Ductal Carcinoma of the Breast || Invasive Ductal Adenocarcinoma || Invasive Ductal Breast Carcinoma || Invasive Ductal Carcinoma || Invasive Ductal Carcinoma of Breast || Invasive Ductal Carcinoma of the Breast || Invasive Ductal Carcinoma, NOS || Invasive Ductal Carcinoma, NST || Invasive Ductal Carcinoma, No Specific Type || Invasive Ductal Carcinoma, Not Otherwise Specified" A term that refers to a large and heterogeneous group of invasive breast carcinomas that cannot be classified morphologically as any of the special histological types. (WHO 2019) C165258 Cellosaurus Disease Terminology C7688 Invasive Breast Ductal Carcinoma and Lobular Carcinoma Invasive Breast Ductal Carcinoma and Lobular Carcinoma Infiltrating Ductal and Lobular Carcinoma || Invasive Duct and Lobular Carcinoma || Invasive Ductal and Lobular Carcinoma An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive. C165258 Cellosaurus Disease Terminology C7950 Invasive Breast Lobular Carcinoma Invasive Breast Lobular Carcinoma "Classic Invasive Lobular Carcinoma || Infiltrating Lobular Adenocarcinoma || Infiltrating Lobular Breast Carcinoma || Infiltrating Lobular Carcinoma of Breast || Infiltrating Lobular Carcinoma of the Breast || Invasive Lobular Adenocarcinoma || Invasive Lobular Breast Carcinoma || Invasive Lobular Carcinoma || Invasive Lobular Carcinoma of Breast || Invasive Lobular Carcinoma of the Breast || Invasive Lobular Carcinoma, Classic Type" "An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures." C165258 Cellosaurus Disease Terminology C36084 Invasive Breast Micropapillary Carcinoma Invasive Breast Micropapillary Carcinoma Infiltrating Micropapillary Breast Carcinoma || Invasive Micropapillary Breast Carcinoma An invasive breast carcinoma characterized by the presence of clusters of malignant cells located within artifactual clear stromal spaces that resemble vascular spaces. C165258 Cellosaurus Disease Terminology C129641 Iron-56 Ion Irradiation Iron-56 Ion Irradiation "Irradiation with heavy, charged nuclei of iron-56." C165258 Cellosaurus Disease Terminology C95802 Ischemic Cerebrovascular Accident Ischemic Stroke Ischemic Cerebrovascular Accident "An acute episode of focal cerebral, spinal, or retinal dysfunction caused by infarction of brain tissue." C165258 Cellosaurus Disease Terminology C129975 Isobutyryl-CoA Dehydrogenase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency "An inherited condition caused by mutation(s) in the ACAD8 gene, encoding isobutyryl-CoA dehydrogenase, mitochondrial. It is characterized by decreased concentrations of carnitine in the blood, encephalopathy, dilated cardiomyopathy, and anemia." C165258 Cellosaurus Disease Terminology C6831 Isodicentric Chromosome Isodicentric Chromosome C165258 Cellosaurus Disease Terminology C98964 Isovaleric Acidemia Isovaleric Acidemia Isovalericacidemia "A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma." C165258 Cellosaurus Disease Terminology C123814 Jackson-Weiss Syndrome Jackson-Weiss Syndrome "A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and foot abnormalities. The craniosynostosis results in a malformed skull, widely spaced eyes, and a bulging forehead. The foot abnormalities consist of short and wide first toes, which bend away from the other toes. In addition, syndactyly in some toes may be present. The hands are almost always normal." C165258 Cellosaurus Disease Terminology C75457 Jacobsen Syndrome Jacobsen Syndrome 11q Terminal Deletion Disorder "A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set ears, strabismus, trigonocephaly, and thrombocytopenia." C165258 Cellosaurus Disease Terminology C84793 Jervell and Lange Nielsen Syndrome Jervell and Lange Nielsen Syndrome An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. C165258 Cellosaurus Disease Terminology C84794 Jeune Syndrome Jeune Syndrome Asphyxiating Thoracic Dystrophy "A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and respiratory disturbances which may lead to asphyxiation. It may be associated with bilateral microcystic renal disease which may lead to renal failure." C165258 Cellosaurus Disease Terminology C74996 Joubert Syndrome Joubert Syndrome "A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia." C165258 Cellosaurus Disease Terminology C175702 Joubert Syndrome 17 Joubert Syndrome 17 "An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CPLANE1 gene, encoding ciliogenesis and planar polarity effector 1." C165258 Cellosaurus Disease Terminology C148259 Joubert Syndrome 3 Joubert Syndrome 3 "An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the AHI1 gene, encoding Jouberin." C165258 Cellosaurus Disease Terminology C159653 Joubert Syndrome 7 Joubert Syndrome 7 "An autosomal recessive sub-type of Joubert syndrome caused by mutation(s) in the RPGRIP1L gene, encoding a protein thought to function in programmed cell death. It is characterized by cerebellar and oculomotor apraxia, hypotonia and psychomotor delay, neonatal respiratory abnormalities, renal abnormalities, and retinal dystrophy." C165258 Cellosaurus Disease Terminology C181002 Joubert Syndrome 9 Joubert Syndrome 9 "An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CC2D2A gene, encoding coiled-coil and C2 domain-containing protein 2A." C165258 Cellosaurus Disease Terminology C90598 Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa Epidermolysis bullosa characterized by separation of the skin through the lamina lucida resulting in blister formation. It includes lethal and non-lethal variants. C165258 Cellosaurus Disease Terminology C4231 Junctional Nevus Junctional Nevus Intraepidermal Nevus || Intraepidermal Nevus of Skin || Intraepidermal Nevus of the Skin || Junction Nevus || Junctional Melanocytic Nevus || Junctional Melanocytoma || Junctional Nevus of Skin || Junctional Nevus of the Skin || Junctional Skin Nevus "A nevus characterized by the presence of an intraepidermal proliferation of nevus cells. The nevus cells form multiple nests in the dermal-epidermal junction. It presents as a small, slightly raised, pigmented skin lesion." C165258 Cellosaurus Disease Terminology C129868 Juvenile Absence Epilepsy Juvenile Absence Epilepsy "A subtype of idiopathic generalized epilepsy, whose manifestations occur around puberty, associated with mutation(s) in the EFHC1 gene, encoding EF-hand domain-containing protein 1." C165258 Cellosaurus Disease Terminology C147072 Juvenile Huntington Disease Juvenile Huntington Disease "An early-onset form of Huntington disease (before age 20) caused by trinucleotide repeat expansion in the HTT gene, encoding huntingtin." C165258 Cellosaurus Disease Terminology C9233 Juvenile Myelomonocytic Leukemia Juvenile Myelomonocytic Leukemia "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C84796 Juvenile Myoclonic Epilepsy Juvenile Myoclonic Epilepsy "An epilepsy characterized by myoclonic jerks, generalized tonic-clonic seizures, and sometimes absence seizures. It appears during adolescence." C165258 Cellosaurus Disease Terminology C75483 Juvenile X-Linked Retinoschisis Juvenile X-Linked Retinoschisis "A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight." C165258 Cellosaurus Disease Terminology C4162 Juxtaglomerular Cell Tumor Juxtaglomerular Cell Tumor Juxtaglomerular Neoplasm || Juxtaglomerular Tumor || Reninoma "A benign, well circumscribed neoplasm arising from the cortex of the kidney. It secrets renin and the patients usually present with severe hypertension and marked hypokalemia. Morphologically, it is characterized by the presence of sheets of polygonal or spindle-shaped neoplastic cells forming a hemangiopericytic pattern." C165258 Cellosaurus Disease Terminology C124837 Kabuki Syndrome Kabuki Syndrome KMS || Kabuki Make-Up Syndrome || Niikawa-Kuroki Syndrome "A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability." C165258 Cellosaurus Disease Terminology C84797 Kartagener Syndrome Kartagener Syndrome "A rare autosomal recessive inherited syndrome characterized by situs inversus, bronchiectasis, and chronic sinusitis. There is a defect in the function of the cilia that line the respiratory tract." C165258 Cellosaurus Disease Terminology C173626 Karyomegalic Interstitial Nephritis Karyomegalic Interstitial Nephritis "An autosomal recessive condition causes by mutation(s) in the FAN1 gene, encoding Fanconi-associated nuclease 1. It is characterized by renal failure, interstitial fibrosis, glomerular sclerosis, and atrophic tubules." C165258 Cellosaurus Disease Terminology C34825 Kawasaki Disease Kawasaki Disease Mucocutaneous Lymph Node Syndrome "A vasculitis characterized by inflammation of the arteries, particularly the coronary arteries. The vasculitis may lead to aneurysm formation and possibly, heart attacks. It affects young children who usually present with persistent high fever, redness of the mucous membranes of the mouth, redness of the palms and soles, skin rashes, lymphadenitis, and joint pain and swelling." C165258 Cellosaurus Disease Terminology C84798 Kearns-Sayre Syndrome Kearns-Sayre Syndrome "A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature." C165258 Cellosaurus Disease Terminology C186306 Keipert Syndrome Keipert Syndrome "An X-linked recessive condition caused by mutation(s) in the GPC4 gene, encoding glypican-4. It is characterized by multiple congenital abnormalities, including distinctive facial dysmorphism, sensorineural hearing loss, variable learning difficulties, and digital anomalies." C165258 Cellosaurus Disease Terminology C3146 Keratoacanthoma Keratoacanthoma Cutaneous Keratoacanthoma || Skin Keratoacanthoma "A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It usually occurs on sun-exposed areas of the body, most often the head, neck, and limbs. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously." C165258 Cellosaurus Disease Terminology C3888 Kidney Angiomyolipoma Kidney Angiomyolipoma Angiomyolipoma of Kidney || Angiomyolipoma of the Kidney || Renal Angiomyolipoma An angiomyolipoma arising from the kidney. C165258 Cellosaurus Disease Terminology C7572 Kidney Medullary Carcinoma Kidney Medullary Carcinoma Renal Medullary Carcinoma "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." C165258 Cellosaurus Disease Terminology C3150 Kidney Neoplasm Kidney Neoplasm Kidney Tumor || Neoplasm of Kidney || Neoplasm of the Kidney || Renal Neoplasm || Renal Tumor || Renal Tumors || Tumor of Kidney || Tumor of the Kidney "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma." C165258 Cellosaurus Disease Terminology C116317 Kidney Small Cell Carcinoma Kidney Small Cell Neuroendocrine Carcinoma Kidney Small Cell Carcinoma || Renal Small Cell Carcinoma A very rare small cell neuroendocrine carcinoma that arises from the kidney. C165258 Cellosaurus Disease Terminology C40407 Kidney Wilms Tumor Kidney Wilms Tumor Kidney Nephroblastoma || Renal Wilms Tumor || Renal Wilms' Tumor || Wilms Tumor of the Kidney || Wilms' Tumor of the Kidney "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver." C165258 Cellosaurus Disease Terminology C129976 Kleefstra Syndrome Kleefstra Syndrome Chromosome 9q34.3 Deletion Syndrome "A condition caused by mutation or deletion of the EHMT1 gene, encoding histone-lysine N-methyltransferase EHMT1. It is characterized by severe intellectual disability, hypotonia, cardiac defects, and characteristic facial features." C165258 Cellosaurus Disease Terminology C34752 Klinefelter Syndrome Klinefelter Syndrome Hypogonadotropic Hypogonadism || Klinefelter's Syndrome || XXY Syndrome || XXY Syndrome (Klinefelter Syndrome) A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. C165258 Cellosaurus Disease Terminology C98967 Klippel-Feil Syndrome Klippel-Feil Syndrome "A rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations." C165258 Cellosaurus Disease Terminology C84801 Klippel-Trenaunay-Weber Syndrome Klippel-Trenaunay-Weber Syndrome "A rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg." C165258 Cellosaurus Disease Terminology C125594 Kniest Dysplasia Kniest Dysplasia "A rare, autosomal dominant inherited bone growth disorder caused by mutations in the COL2A1gene. It is characterized by short stature (dwarfism) and other skeletal abnormalities, round, flat face with bulging and wide-set eyes, myopia and retinal detachment that can lead to blindness." C165258 Cellosaurus Disease Terminology C61254 Krabbe Disease Krabbe Disease Galactosylceramide Lipidosis || Globoid Cell Leukodystrophy "A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness." C165258 Cellosaurus Disease Terminology C3153 Krukenberg Tumor Krukenberg Tumor Krukenberg Neoplasm Metastatic signet-ring cell carcinoma in the ovary. The primary site is the gastrointestinal tract or breast. C165258 Cellosaurus Disease Terminology C84820 LEOPARD Syndrome LEOPARD Syndrome Multiple Lentigines Syndrome "A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness." C165258 Cellosaurus Disease Terminology C122657 LIG4 Syndrome LIG4 Syndrome "A very rare genetic disorder caused by mutation in the LIG4 gene. It is characterized by unusual facial features, microcephaly, growth and developmental delay, severe immunodeficiency, and skin abnormalities." C165258 Cellosaurus Disease Terminology C4540 Lacrimal Gland Adenoid Cystic Carcinoma Lacrimal Gland Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma of Lacrimal Gland || Adenoid Cystic Carcinoma of the Lacrimal Gland "A carcinoma that arises from the lacrimal gland. It is characterized by the presence of malignant epithelial cells that form cribriform, tubular, and solid patterns." C165258 Cellosaurus Disease Terminology C98969 Lactic Acidosis Lactic Acidosis Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. C165258 Cellosaurus Disease Terminology C84804 Lafora Disease Lafora Disease "A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia." C165258 Cellosaurus Disease Terminology C126876 Langer Mesomelic Dysplasia Langer Mesomelic Dysplasia "An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs." C165258 Cellosaurus Disease Terminology C3107 Langerhans Cell Histiocytosis Langerhans Cell Histiocytosis "Langerhans Cell Granulomatosis || Langerhans Cell Histiocytosis, NOS || Langerhans Cell Histiocytosis, Not Otherwise Specified" "A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C4044 Laryngeal Squamous Cell Carcinoma Laryngeal Squamous Cell Carcinoma Epidermoid Carcinoma of Larynx || Epidermoid Carcinoma of the Larynx || Laryngeal Conventional Squamous Cell Carcinoma || Laryngeal Epidermoid Carcinoma || Larynx Epidermoid Carcinoma || Larynx Squamous Cell Carcinoma || Squamous Cell Carcinoma of Larynx || Squamous Cell Carcinoma of the Larynx "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." C165258 Cellosaurus Disease Terminology C129075 Leber Congenital Amaurosis Leber Congenital Amaurosis "A congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment." C165258 Cellosaurus Disease Terminology C84808 Leber Hereditary Optic Atrophy Leber Hereditary Optic Atrophy "A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It may initially affect one eye only, but eventually the central loss of vision becomes bilateral." C165258 Cellosaurus Disease Terminology C99544 Left Ventricular Non-Compaction Syndrome Left Ventricular Non-Compaction Syndrome LV Non-Compaction Syndrome || LVNC || Left Ventricular Non-Compaction Cardiomyopathy "An uncommon congenital abnormality where the left ventricular myocardium fails to compact during embryonic development, leading to cardiomyopathy with a variable degree of ventricular dysfunction. There is genetic heterogeneity and phenotypic variability. Characteristically, there are typically deep trabeculations in the noncompacted area, with varying proportions of the LV myocardium compacted. LV noncompaction is associated with rhythm abnormalities including Wolff-Parkinson-White syndrome, conduction defects, and ventricular tachyarrhythmias." C165258 Cellosaurus Disease Terminology C157266 Left Ventricular Noncompaction 7 Left Ventricular Noncompaction 7 "An autosomal dominant sub-type of left ventricular noncompaction syndrome caused by heterozygous mutation(s) of the MIB1 gene, encoding E3 ubiquitin-protein ligase MIB1." C165258 Cellosaurus Disease Terminology C84814 Leigh Disease Leigh Disease Leigh Syndrome "An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures." C165258 Cellosaurus Disease Terminology C3157 Leiomyoma Leiomyoma Fibroid || Leiomyomatous Tumor "A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." C165258 Cellosaurus Disease Terminology C3158 Leiomyosarcoma Leiomyosarcoma "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." C165258 Cellosaurus Disease Terminology C84816 Lennox-Gastaut Syndrome Lennox-Gastaut Syndrome "A syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems." C165258 Cellosaurus Disease Terminology C126560 Leri-Weill Dyschondrosteosis Leri-Weill Dyschondrosteosis "A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement." C165258 Cellosaurus Disease Terminology C61255 Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome "An X-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips)." C165258 Cellosaurus Disease Terminology C154618 Lethal Neonatal Rigidity and Multifocal Seizure Syndrome Lethal Neonatal Rigidity and Multifocal Seizure Syndrome RMFSL C165258 Cellosaurus Disease Terminology C3160 Letterer-Siwe Disease Letterer-Siwe Disease "A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia." C165258 Cellosaurus Disease Terminology C27874 Leukocyte Adhesion Deficiency Leukocyte Adhesion Deficiency A rare autosomal recessive immunodeficiency disorder caused by deficiency of CD18 expression. It is characterized by defects in neutrophil adhesion and bacterial infections. C165258 Cellosaurus Disease Terminology C154615 Leukocyte Adhesion Deficiency Type 3 Leukocyte Adhesion Deficiency Type 3 "An autosomal recessive condition caused by mutation(s) in the FERMT3 gene, encoding fermitin family homolog 3. It is characterized by a defect in activation of all beta integrins. It manifests clinically as severe infections with marked leukocytosis, accompanied by life-threatening bleeding episodes." C165258 Cellosaurus Disease Terminology C61253 Leukodystrophy Leukodystrophy "A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease." C165258 Cellosaurus Disease Terminology C171603 Leukoencephalopathy with Ataxia Leukoencephalopathy with Ataxia CC2L || CLCN2-Related Leukoencephalopathy "An autosomal recessive condition caused by mutation(s) in the CLCN2 gene, encoding chloride channel protein 2. It is characterized by variable clinical features including mild cerebellar ataxia, chorioretinopathy, visual field defects, and headaches. A characteristic pattern of white matter abnormalities is evident on MRI." C165258 Cellosaurus Disease Terminology C188991 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation "An autosomal recessive condition caused by mutation(s) in the DARS2 gene, encoding aspartate--tRNA ligase, mitochondrial. It is characterized by slowly developing progressive cerebellar ataxia, spasticity, dorsal column dysfunction, and may also include a mild cognitive deficit or decline." C165258 Cellosaurus Disease Terminology C122664 Leukoencephalopathy with Vanishing White Matter Leukoencephalopathy with Vanishing White Matter "A rare, progressive neurological disorder inherited in an autosomal recessive pattern. It is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes, resulting in deterioration of central nervous system's white matter. Usually, there are no signs and symptoms of the disorder at birth. During early childhood, affected individuals develop spasticity and ataxia which may be associated with deterioration of the metal function. Examination of the brain at autopsy reveals normal gray matter while the white matter is soft and gelatinous with numerous small cavities." C165258 Cellosaurus Disease Terminology C84826 Lewy Body Dementia Lewy Body Dementia Lewy Body Disease "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." C165258 Cellosaurus Disease Terminology C3476 Li-Fraumeni Syndrome Li-Fraumeni Syndrome "Li-Fraumeni Familial Cancer Susceptibility Syndrome || Li-Fraumeni Syndrome, TP53-Associated || TP53-Associated Li-Fraumeni Syndrome" "An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia." C165258 Cellosaurus Disease Terminology C84828 Limb-Girdle Muscular Dystrophy Limb-Girdle Muscular Dystrophy A group of autosomal recessive and less frequently autosomal dominant muscular dystrophies affecting the muscles of the hips and shoulders. C165258 Cellosaurus Disease Terminology C148318 Limb-Girdle Muscular Dystrophy Type 1C Limb-Girdle Muscular Dystrophy Type 1C "A sub-type of limb-girdle muscular dystrophy caused by mutation(s) in the CAV3 gene, encoding caveolin-3." C165258 Cellosaurus Disease Terminology C142079 Limb-Girdle Muscular Dystrophy Type 2A Limb-Girdle Muscular Dystrophy Type 2A Autosomal Recessive Muscular Dystrophy Limb-Girdle 1 || LGMDR1 "An autosomal recessive condition caused by mutation(s) in the CAPN3 gene, encoding calpain-3. It is characterized by muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking." C165258 Cellosaurus Disease Terminology C142080 Limb-Girdle Muscular Dystrophy Type 2B Limb-Girdle Muscular Dystrophy Type 2B Autosomal Recessive Muscular Dystrophy Limb-Girdle 2 || LGMDR2 "An autosomal recessive condition caused by mutation(s) in the DYSF gene, encoding dysferlin. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking." C165258 Cellosaurus Disease Terminology C142081 Limb-Girdle Muscular Dystrophy Type 2D Limb-Girdle Muscular Dystrophy Type 2D Autosomal Recessive Muscular Dystrophy Limb-Girdle 3 || LGMD2D || LGMDR3 "An autosomal recessive condition caused by mutation(s) in the SGCA gene, encoding alpha-sarcoglycan. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking." C165258 Cellosaurus Disease Terminology C142082 Limb-Girdle Muscular Dystrophy Type 2Z Limb-Girdle Muscular Dystrophy Type 2Z Autosomal Recessive Muscular Dystrophy Limb-Girdle 21 || LGMDR21 "An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking." C165258 Cellosaurus Disease Terminology C4042 Lip Squamous Cell Carcinoma Lip Squamous Cell Carcinoma Lip SCC || SCC of Lip || SCC of the Lip || Squamous Cell Carcinoma of Lip || Squamous Cell Carcinoma of the Lip "A squamous cell carcinoma that arises from the lip. It affects males more often than females and it usually involves the lower lip. Risk factors include UV exposure, alcohol consumption, smoking, and immunosuppression." C165258 Cellosaurus Disease Terminology C84829 Lipoid Proteinosis of Urbach and Wiethe Lipoid Proteinosis of Urbach and Wiethe "A rare, autosomal recessive metabolic disorder characterized by hoarseness of voice, eyelid beading, skin lesions, and seizures." C165258 Cellosaurus Disease Terminology C3192 Lipoma Lipoma "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." C165258 Cellosaurus Disease Terminology C3194 Liposarcoma Liposarcoma Liposarcoma Not Otherwise Specified || Malignant Lipomatous Neoplasm "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors." C165258 Cellosaurus Disease Terminology C103921 Lissencephaly Lissencephaly A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms. C165258 Cellosaurus Disease Terminology C148461 Lissencephaly 3 Lissencephaly 3 "An autosomal dominant sub-type of lissencephaly caused by mutation(s) in the TUBA1A gene, encoding adhesion tubulin alpha-1A chain." C165258 Cellosaurus Disease Terminology C118630 Liver Adenosquamous Carcinoma Liver Adenosquamous Carcinoma A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells. C165258 Cellosaurus Disease Terminology C4438 Liver Angiosarcoma Liver Angiosarcoma Angiosarcoma of Liver || Angiosarcoma of the Liver || Hemangiosarcoma of Liver || Hemangiosarcoma of the Liver || Hepatic Angiosarcoma || Hepatic Hemangiosarcoma || Liver Hemangiosarcoma || Primary Angiosarcoma of Liver || Primary Angiosarcoma of the Liver A malignant vascular neoplasm arising from the liver. C165258 Cellosaurus Disease Terminology C5751 Liver Mesenchymal Hamartoma Liver Mesenchymal Hamartoma Hepatic Mesenchymal Hamartoma || Liver MH || Mesenchymal Hamartoma of Liver || Mesenchymal Hamartoma of the Liver "A multicystic mesenchymal tumor that arises from the liver during fetal development. It is the third most common pediatric liver tumor following hepatoblastoma and infantile hemangioma. Cytogenetic and molecular studies have revealed the presence of chromosomal rearrangements involving chromosome 19q13.4 or androgenetic-biparental mosaicism. These findings support the evidence that it is a neoplastic process and not only a developmental process. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Morphologically, it consists of hypocellular fibromyxoid stroma and bland spindle cell proliferation. It generally has a benign clinical course. Following resection, the prognosis is good." C165258 Cellosaurus Disease Terminology C96792 Liver Undifferentiated Carcinoma Liver Undifferentiated Carcinoma Undifferentiated Liver Carcinoma || Undifferentiated Primary Liver Carcinoma A rare carcinoma that arises from the liver. The diagnosis is made by immunohistochemical studies. Morphologic studies alone cannot establish the diagnosis of carcinoma or further subclassify the malignant tumor. C165258 Cellosaurus Disease Terminology C7106 Liver and Intrahepatic Bile Duct Epithelial Neoplasm Liver Epithelial Neoplasm Epithelial Hepatic and Intrahepatic Bile Duct Neoplasm || Liver and Intrahepatic Bile Duct Epithelial Neoplasm A benign or malignant epithelial neoplasm that affects the liver. C165258 Cellosaurus Disease Terminology C75119 Loeys-Dietz Syndrome Type 1 Loeys-Dietz Syndrome Type 1 "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones." C165258 Cellosaurus Disease Terminology C114768 Loeys-Dietz Syndrome Type 2 Loeys-Dietz Syndrome Type 2 Loeys-Dietz Syndrome Type II "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2." C165258 Cellosaurus Disease Terminology C186786 Loeys-Dietz Syndrome Type 3 Loeys-Dietz Syndrome Type 3 "Loeys-Dietz syndrome caused by mutation(s) in the SMAD3 gene, encoding mothers against decapentaplegic homolog 3." C165258 Cellosaurus Disease Terminology C188143 Loeys-Dietz Syndrome Type 5 Loeys-Dietz Syndrome Type 5 Rienhoff Syndrome "Loeys-Dietz syndrome caused by mutation(s) in the TGFB3 gene, encoding transforming growth factor beta-3 proprotein." C165258 Cellosaurus Disease Terminology C34786 Long QT Syndrome Long QT Syndrome "A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death." C165258 Cellosaurus Disease Terminology C85049 Long QT Syndrome 1 Long QT Syndrome 1 Romano-Ward Syndrome "An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." C165258 Cellosaurus Disease Terminology C177534 Long QT Syndrome 14 Long QT Syndrome 14 "An autosomal dominant subtype of long QT syndrome caused by mutation(s) in the CALM1 gene, encoding calmodulin-1." C165258 Cellosaurus Disease Terminology C137957 Long QT Syndrome 2 Long QT Syndrome 2 "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." C165258 Cellosaurus Disease Terminology C137959 Long QT Syndrome 3 Long QT Syndrome 3 "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." C165258 Cellosaurus Disease Terminology C172094 Long QT Syndrome 5 Long QT Syndrome 5 "An autosomal dominant condition caused by mutation(s) in the KCNE1 gene, encoding potassium voltage-gated channel subfamily E member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." C165258 Cellosaurus Disease Terminology C84559 Long QT Syndrome 7 Long QT Syndrome 7 Andersen Syndrome || Andersen-Tawil syndrome "A subtype of long QT syndrome caused by mutation(s) in the KCNJ2 gene, encoding inward rectifier potassium channel 2. It is characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers." C165258 Cellosaurus Disease Terminology C142894 Long QT Syndrome 8 Long QT Syndrome 8 Timothy Syndrome "An autosomal dominant condition caused by mutation(s) in the CACNA1C gene, encoding voltage-dependent L-type calcium channel subunit alpha-1C. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." C165258 Cellosaurus Disease Terminology C129929 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency "An inherited condition caused by mutation(s) in the HADHA gene, encoding trifunctional enzyme subunit alpha, mitochondrial. It is characterized by hypoglycemia, hypotonia, neuropathy, cardiomyopathy, pigmentary retinopathy and may be associated with sudden death." C165258 Cellosaurus Disease Terminology C39795 Loss of Chromosome 14q Loss of Chromosome 14q del(14q) A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 14 (14q). C165258 Cellosaurus Disease Terminology C141398 Loss of Chromosome 4p Loss of Chromosome 4p 4p Deletion || del(4p) A cytogenic abnormality that refers to loss of all or part of the short arm of chromosome 4 (4p). C165258 Cellosaurus Disease Terminology C45202 Low Grade Fibromyxoid Sarcoma Low Grade Fibromyxoid Sarcoma "A low-grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein." C165258 Cellosaurus Disease Terminology C105556 Low Grade Ovarian Serous Adenocarcinoma Ovarian Low Grade Serous Adenocarcinoma Invasive Ovarian Micropapillary Serous Carcinoma || Low Grade Ovarian Serous Adenocarcinoma || Low-Grade Ovarian Serous Adenocarcinoma || Ovarian Low-Grade Serous Adenocarcinoma A slow-growing serous adenocarcinoma that arises from the ovary. It usually originates from borderline neoplastic processes or adenofibromas. It is characterized by the presence of low grade cytologic features and infrequent mitotic figures. C165258 Cellosaurus Disease Terminology C8171 Lower Gingival Squamous Cell Carcinoma Lower Gingival Squamous Cell Carcinoma Lower Gingival SCC || Lower Gum SCC || Lower Gum Squamous Cell Carcinoma || SCC of Lower Gingiva || SCC of Lower Gum || SCC of the Lower Gingiva || SCC of the Lower Gum || Squamous Cell Carcinoma of Lower Gingiva || Squamous Cell Carcinoma of Lower Gum || Squamous Cell Carcinoma of the Lower Gingiva || Squamous Cell Carcinoma of the Lower Gum A squamous cell carcinoma of the oral cavity that arises from the lower gingiva. C165258 Cellosaurus Disease Terminology C126747 Lubs X-Linked Mental Retardation Syndrome Lubs X-Linked Mental Retardation Syndrome MECP2 Duplication Syndrome "An X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections." C165258 Cellosaurus Disease Terminology C3512 Lung Adenocarcinoma Lung Adenocarcinoma Adenocarcinoma of Lung || Adenocarcinoma of the Lung "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor." C165258 Cellosaurus Disease Terminology C9133 Lung Adenosquamous Carcinoma Lung Adenosquamous Carcinoma Adenosquamous Cell Lung Carcinoma || Adenosquamous Lung Carcinoma An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells. C165258 Cellosaurus Disease Terminology C4038 Lung Carcinoid Tumor Lung Carcinoid Tumor Carcinoid Tumor of Lung || Carcinoid Tumor of the Lung || Lung NET || Lung Neuroendocrine Tumor || Pulmonary Carcinoid Tumor A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis. C165258 Cellosaurus Disease Terminology C4878 Lung Carcinoma Lung Carcinoma Cancer of Lung || Cancer of the Lung || Carcinoma of Lung || Carcinoma of the Lung || Lung Cancer "A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors." C165258 Cellosaurus Disease Terminology C45543 Lung Carcinosarcoma Lung Carcinosarcoma Pulmonary Carcinosarcoma A morphologic variant of lung sarcomatoid carcinoma composed of a mixture of non-small cell lung carcinoma and a sarcomatous component. C165258 Cellosaurus Disease Terminology C45516 Lung Clear Cell Adenocarcinoma A well differentiated morphologic variant of lung adenocarcinoma characterized by the predominance of clear cells. C165258 Cellosaurus Disease Terminology C4452 Lung Giant Cell Carcinoma Lung Giant Cell Carcinoma Giant Cell Carcinoma of Lung || Giant Cell Carcinoma of the Lung A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion. C165258 Cellosaurus Disease Terminology C4450 Lung Large Cell Carcinoma Lung Large Cell Carcinoma Anaplastic Lung Carcinoma || Large Cell Carcinoma of Lung || Large Cell Carcinoma of the Lung || Large Cell Lung Carcinoma || Large Cell Undifferentiated Lung Carcinoma "An undifferentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular, squamous, or neuroendocrine differentiation." C165258 Cellosaurus Disease Terminology C5672 Lung Large Cell Neuroendocrine Carcinoma Lung Large Cell Neuroendocrine Carcinoma LCNEC of the Lung || Large Cell Lung Carcinoma with Neuroendocrine Differentiation || Large Cell Lung Neuroendocrine Carcinoma || Large Cell Neuroendocrine Carcinoma of Lung || Large Cell Neuroendocrine Carcinoma of the Lung || Pulmonary Large Cell Neuroendocrine Carcinoma A high grade carcinoma that arises from the lung and is characterized by the presence of large neuroendocrine cells. It usually has an aggressive clinical course. C165258 Cellosaurus Disease Terminology C38153 Lung Lymphangioleiomyomatosis Lung Lymphangioleiomyomatosis Lung Lymphangiomyomatosis Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course. C165258 Cellosaurus Disease Terminology C128847 Lung Micropapillary Adenocarcinoma Lung Micropapillary Adenocarcinoma An aggressive variant of lung adenocarcinoma that exhibits a micropapillary architectural pattern. The prognosis is usually poor. C165258 Cellosaurus Disease Terminology C45544 Lung Mucoepidermoid Carcinoma Lung Mucoepidermoid Carcinoma "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells." C165258 Cellosaurus Disease Terminology C2926 Lung Non-Small Cell Carcinoma Lung Non-Small Cell Carcinoma NSCLC - Non-Small Cell Lung Cancer || Non Small Cell Lung Cancer NOS || Non-Small Cell Cancer of Lung || Non-Small Cell Cancer of the Lung || Non-Small Cell Carcinoma of Lung || Non-Small Cell Carcinoma of the Lung || Non-Small Cell Lung Cancer || Non-Small Cell Lung Carcinoma "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy." C165258 Cellosaurus Disease Terminology C5650 Lung Papillary Adenocarcinoma Lung Papillary Adenocarcinoma Papillary Adenocarcinoma of Lung || Papillary Adenocarcinoma of the Lung || Papillary Lung Adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures. C165258 Cellosaurus Disease Terminology C45542 Lung Pleomorphic Carcinoma Lung Pleomorphic Carcinoma A morphologic variant of sarcomatoid carcinoma characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells. C165258 Cellosaurus Disease Terminology C45540 Lung Sarcomatoid Carcinoma Lung Sarcomatoid Carcinoma "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." C165258 Cellosaurus Disease Terminology C4917 Lung Small Cell Carcinoma Lung Small Cell Carcinoma Lung Small Cell Neuroendocrine Carcinoma || Small Cell Carcinoma of Lung || Small Cell Carcinoma of the Lung || Small Cell Lung Cancer || Small Cell Lung Carcinoma || Small Cell Neuroendocrine Carcinoma of Lung || Small Cell Neuroendocrine Carcinoma of the Lung A highly aggressive carcinoma with neuroendocrine differentiation arising from the lung. It is characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis. C165258 Cellosaurus Disease Terminology C3493 Lung Squamous Cell Carcinoma Lung Squamous Cell Carcinoma Epidermoid Cell Carcinoma of Lung || Epidermoid Cell Carcinoma of the Lung || Epidermoid Cell Lung Carcinoma || Squamous Cell Carcinoma of Lung || Squamous Cell Carcinoma of the Lung || Squamous Cell Lung Carcinoma "A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma." C165258 Cellosaurus Disease Terminology C45550 Lung Typical Carcinoid Tumor Lung Typical Carcinoid Tumor "Lung NET G1 || Lung NET Grade 1 || Lung NET, Grade 1 || Lung Neuroendocrine Tumor G1 || Lung Neuroendocrine Tumor Grade 1 || Lung Neuroendocrine Tumor, Grade 1" A carcinoid tumor of the lung characterized by the absence of necrosis and the presence of less than 2 mitoses per 10 high power fields. C165258 Cellosaurus Disease Terminology C97087 Lymphangiectasia Lymphangiectasia Dilatation of the lymphatic vessels. C165258 Cellosaurus Disease Terminology C3725 Lymphangioleiomyomatosis Lymphangioleiomyomatosis Lymphangiomyomatosis "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." C165258 Cellosaurus Disease Terminology C3205 Lymphangiosarcoma Lymphangiosarcoma Lymphangioendothelial Sarcoma || Malignant Lymphangioendothelioma A malignant neoplasm arising from the endothelial cells of the lymphatic vessels. C165258 Cellosaurus Disease Terminology C128191 Lymphedema-Distichiasis Syndrome Lymphedema-Distichiasis Syndrome "An autosomal dominant genetic disorder caused by mutation(s) in the FOXC2 gene, encoding forkhead box protein C2. The condition is characterized by lymphedema and distichiasis." C165258 Cellosaurus Disease Terminology C9360 Lymphoblastic Lymphoma Lymphoblastic Lymphoma Precursor Cell Lymphoblastic Lymphoma || Precursor Lymphoblastic Lymphoma A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma. C165258 Cellosaurus Disease Terminology C7205 Lymphoepithelioid Variant Peripheral T-Cell Lymphoma Lymphoepithelioid Variant Peripheral T-Cell Lymphoma Lennert Lymphoma || Lennert Variant Peripheral T-Cell Lymphoma || Lennert's Lymphoma || Lennert's Variant Peripheral T-Cell Lymphoma || Lymphoepithelioid Cell Variant Peripheral T-Cell Lymphoma "A variant of peripheral T-cell lymphoma, not otherwise specified. It is characterized by the presence of neoplastic small lymphocytes infiltrating the lymph nodes in a diffuse and less frequently interfollicular pattern. There is an associated proliferation of epithelioid histiocytes forming confluent clusters." C165258 Cellosaurus Disease Terminology C27779 Lymphohistiocytoid Mesothelioma Lymphohistiocytoid Mesothelioma C165258 Cellosaurus Disease Terminology C7539 Lymphoid Leukemia Lymphoid Leukemia Lymphocytic Leukemia A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. C165258 Cellosaurus Disease Terminology C3208 Lymphoma Lymphoma Lymphoma (Hodgkin and Non-Hodgkin) || Lymphoma (Hodgkin's and Non-Hodgkin's) || Malignant Lymphoma "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." C165258 Cellosaurus Disease Terminology C8494 Lynch Syndrome Lynch Syndrome "Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) || Hereditary Colorectal Endometrial Cancer Syndrome || Hereditary Defective Mismatch Repair Syndrome || Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) || Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2)" "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present." C165258 Cellosaurus Disease Terminology C121563 Lysinuric Protein Intolerance Lysinuric Protein Intolerance "A disorder caused by the inability to digest and use lysine, arginine, and ornithine. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. y+L amino acid transporter 1, the product of the SLC7A7 gene, is involved in transporting lysine, arginine, and ornithine between cells in the body." C165258 Cellosaurus Disease Terminology C129930 MASA Syndrome MASA Syndrome "CRASH Syndrome || Gareis-Mason Syndrome || Mental retardation, Aphasia, Shuffling Gait, and Adducted Thumbs || Spastic Paraplegia, X-linked" "An X-linked recessive condition caused by mutation(s) in the L1CAM gene, encoding neural cell adhesion molecule L1. It is characterized by mental retardation, aphasia, shuffling gait and adducted thumbs." C165258 Cellosaurus Disease Terminology C84885 MELAS Syndrome MELAS Syndrome "A rare progressive neurodegenerative disorder characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes." C165258 Cellosaurus Disease Terminology C147530 MIRAGE Syndrome MIRAGE Syndrome "Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy" "An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy." C165258 Cellosaurus Disease Terminology C182077 Macaca mulatta Hepatocellular Carcinoma Macaca mulatta Hepatocellular Carcinoma Rhesus Monkey Hepatocellular Carcinoma Hepatocellular carcinoma occurring in a Macaca mulatta (rhesus monkey). C165258 Cellosaurus Disease Terminology C158788 Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss "An autosomal dominant disorder caused by mutation(s) of the MYH9 gene, encoding myosin-9. Clinical features include thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, and may be associated with other organ dysfunction. It comprises the Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome-- all of which were previously believed to be distinct entities." C165258 Cellosaurus Disease Terminology C34793 Macular Corneal Dystrophy Macular Corneal Dystrophy "A stromal corneal dystrophy, with autosomal recessive inheritance, that is caused by lack of or abnormal keratan sulfate." C165258 Cellosaurus Disease Terminology C123330 Macular Degeneration Macular Degeneration "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." C165258 Cellosaurus Disease Terminology C168999 "Macular Dystrophy, Retinal, 1" "Macular Dystrophy, Retinal, 1" North Carolina Macular Dystrophy || Retinal Macular Dystrophy-1 An autosomal dominant form of macular dystrophy associated with mutation(s) in the DNase1 hypersensitivity site DHS6S1. C165258 Cellosaurus Disease Terminology C4304 Malignancy in Giant Cell Tumor of Bone Malignancy in Giant Cell Tumor of Bone Dedifferentiated Giant Cell Tumor || Giant Cell Bone Sarcoma || Giant Cell Sarcoma of Bone || Giant Cell Sarcoma of the Bone || Malignancy in Giant Cell Tumor of the Bone || Malignant Giant Cell Tumor of Bone "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." C165258 Cellosaurus Disease Terminology C4504 Malignant Breast Phyllodes Tumor Malignant Breast Phyllodes Tumor Malignant Breast Phyllodes Neoplasm || Malignant Mammary Phyllodes Neoplasm || Malignant Mammary Phyllodes Tumor || Malignant Phyllodes Breast Neoplasm || Malignant Phyllodes Neoplasm of Breast || Malignant Phyllodes Neoplasm of the Breast || Malignant Phyllodes Tumor of Breast || Malignant Phyllodes Tumor of the Breast "A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present." C165258 Cellosaurus Disease Terminology C8025 Malignant Mixed Tumor of the Salivary Gland Malignant Mixed Tumor of the Salivary Gland Malignant Mixed Cell Type Neoplasm of Salivary Gland || Malignant Mixed Cell Type Neoplasm of the Salivary Gland || Malignant Mixed Neoplasm of Salivary Gland || Malignant Mixed Neoplasm of the Salivary Gland || Malignant Mixed Tumor of Salivary Gland || Malignant Salivary Gland Mixed Cell Type Neoplasm || Malignant Salivary Gland Mixed Cell Type Tumor || Malignant Salivary Gland Mixed Neoplasm || Malignant Salivary Gland Mixed Tumor || Mixed Malignant Neoplasm of Salivary Gland || Mixed Malignant Neoplasm of the Salivary Gland || Mixed Malignant Salivary Gland Neoplasm || Mixed Malignant Salivary Gland Tumor || Mixed Malignant Tumor of Salivary Gland || Mixed Malignant Tumor of the Salivary Gland "A malignant tumor arising from the salivary gland. It includes carcinoma ex pleomorphic adenoma, a malignant epithelial tumor arising from a pre-existing pleomorphic adenoma and carcinosarcoma which is characterized by a mixture of malignant epithelial and sarcomatous elements." C165258 Cellosaurus Disease Terminology C35427 Malignant Neoplasm of Multiple Primary Sites Malignant Neoplasm of Multiple Primary Sites A malignant neoplasm arising in multiple primary sites. C165258 Cellosaurus Disease Terminology C21678 Malignant Neoplasms of the Mouse Mammary Gland Malignant Neoplasms of the Mouse Mammary Gland C165258 Cellosaurus Disease Terminology C4270 Malignant Ovarian Brenner Tumor Malignant Ovarian Brenner Tumor Malignant Brenner Tumor of Ovary || Malignant Brenner Tumor of the Ovary "A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good." C165258 Cellosaurus Disease Terminology C39995 Malignant Ovarian Teratoma Malignant Ovarian Teratoma Grade 3 Ovarian Teratoma A teratoma that arises from the ovary. It is composed exclusively of immature tissue elements. C165258 Cellosaurus Disease Terminology C6929 Malignant Ovarian Thecoma Malignant Ovarian Thecoma Malignant Ovarian Thecal Cell Neoplasm || Malignant Ovarian Thecal Cell Tumor || Malignant Thecal Cell Neoplasm of Ovary || Malignant Thecal Cell Neoplasm of the Ovary || Malignant Thecal Cell Tumor of Ovary || Malignant Thecal Cell Tumor of the Ovary || Malignant Thecoma of Ovary || Malignant Thecoma of the Ovary A thecoma of the ovary which may metastasize to another anatomic site. It is usually characterized by nuclear atypia and mitotic activity. Malignant thecomas are rare. C165258 Cellosaurus Disease Terminology C3798 Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Neoplasm "An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1)." C165258 Cellosaurus Disease Terminology C64058 Malignant Sertoli Cell Tumor of the Rat Testis Malignant Sertoli Cell Tumor of the Rat Testis C165258 Cellosaurus Disease Terminology C3539 Malignant Splenic Neoplasm Malignant Splenic Neoplasm Cancer of the Spleen || Malignant Neoplasm of Spleen || Malignant Neoplasm of the Spleen || Malignant Splenic Tumor || Malignant Tumor of Spleen || Malignant Tumor of the Spleen || Spleen Cancer || Splenic Cancer "A malignant neoplasm affecting the spleen. Representative examples include leukemias, lymphomas, and sarcomas." C165258 Cellosaurus Disease Terminology C6535 Malignant Tenosynovial Giant Cell Tumor Malignant Tenosynovial Giant Cell Tumor Malignant Giant Cell Neoplasm of Tendon Sheath || Malignant Giant Cell Neoplasm of the Tendon Sheath || Malignant Giant Cell Tumor of Tendon Sheath || Malignant Giant Cell Tumor of the Tendon Sheath || Malignant Tendon Sheath Giant Cell Neoplasm || Malignant Tendon Sheath Giant Cell Tumor "An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well." C165258 Cellosaurus Disease Terminology C21769 Malignant Tumors of the Mouse Pulmonary System Malignant Tumors of the Mouse Pulmonary System C165258 Cellosaurus Disease Terminology C123417 Mandibuloacral Dysplasia with Type A Lipodystrophy Mandibuloacral Dysplasia with Type A Lipodystrophy MADA "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." C165258 Cellosaurus Disease Terminology C34805 Manic Bipolar Affective Disorder Manic Bipolar Affective Disorder The manic phase of bipolar disorder. C165258 Cellosaurus Disease Terminology C4337 Mantle Cell Lymphoma Mantle Cell Lymphoma Classical Mantle Cell Lymphoma "An aggressive, usually diffuse non-Hodgkin lymphoma composed of small to medium sized B-lymphocytes (centrocytes). Most patients present with advanced stage disease with lymphadenopathy, hepatosplenomegaly, and bone marrow involvement. The gastrointestinal tract is the most commonly affected extranodal site by this type of non-Hodgkin lymphoma. The vast majority of cases express the t(11;14)(q13;q32) resulting in the rearrangement of the BCL-1 gene and the overexpression of cyclin D1 mRNA." C165258 Cellosaurus Disease Terminology C34806 Maple Syrup Urine Disease Maple Syrup Urine Disease "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." C165258 Cellosaurus Disease Terminology C84884 Marek Disease Marek Disease "A viral infection in chickens caused by the herpes virus. It is characterized by tissue lymphocytic infiltration, limb paralysis and development of tumors." C165258 Cellosaurus Disease Terminology C34807 Marfan Syndrome Marfan Syndrome Marfan's Syndrome "A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens." C165258 Cellosaurus Disease Terminology C134959 Marmoset Lymphoma Marmoset Lymphoma Lymphoma that occurs in a marmoset. C165258 Cellosaurus Disease Terminology C61264 Maroteaux-Lamy Syndrome Maroteaux-Lamy Syndrome Mucopolysaccharidosis Type VI || Mucopolysaccharidosis VI "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by organomegaly, short stature, joint stiffness, otitis media, and respiratory illnesses." C165258 Cellosaurus Disease Terminology C128115 Marshall Syndrome Marshall Syndrome "An autosomal dominant condition caused by mutation(s) in the COL11A1 gene, encoding collagen alpha-1(XI) chain. The syndrome may be characterized by facial dysmorphism, cataracts, myopia, hearing loss, and short stature. Mutation(s) in the COL11A1 gene are causative in Stickler syndrome, but the phenotype of Marshall syndrome is more mild." C165258 Cellosaurus Disease Terminology C3169 Mast Cell Leukemia Mast Cell Leukemia "A variant of systemic mastocytosis with involvement of the bone marrow (20% or more mast cells) and the peripheral blood (mast cells account for 10% or more of peripheral blood white cells). (WHO, 2001)" C165258 Cellosaurus Disease Terminology C5260 Mature Gastric Teratoma Mature Gastric Teratoma Mature Teratoma of Stomach || Mature Teratoma of the Stomach A benign teratoma that arises from the stomach. It contains mature tissue elements only. C165258 Cellosaurus Disease Terminology C114769 Maturity-Onset Diabetes of the Young Maturity-Onset Diabetes of the Young MODY || Maturity Onset Diabetes of the Young "A rare autosomal dominant form of diabetes mellitus affecting young people with a positive family history. MODY is a form of monogenic diabetes, resulting from mutations in a single gene. The most common forms are HNF1alpha-MODY (MODY3) and GCK-MODY (MODY2), due to mutations in the HNF1A and GCK genes, respectively." C165258 Cellosaurus Disease Terminology C6064 Maxillary Sinus Squamous Cell Carcinoma Maxillary Sinus Squamous Cell Carcinoma Epidermoid Carcinoma of Maxillary Sinus || Epidermoid Carcinoma of the Maxillary Sinus || Maxillary Sinus Epidermoid Carcinoma || Squamous Cell Carcinoma of Maxillary Sinus || Squamous Cell Carcinoma of the Maxillary Sinus "A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." C165258 Cellosaurus Disease Terminology C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome Mayer-Rokitansky-Kuster-Hauser Syndrome "A rare syndrome of unknown cause that occurs in females. It is characterized by underdeveloped or absent vagina and uterus in an otherwise phenotypically normal female with a normal 46,XX karyotype. Other abnormalities include unilateral renal agenesis, skeletal abnormalities, hearing loss, and heart defects." C165258 Cellosaurus Disease Terminology C98978 Meckel-Gruber Syndrome Meckel-Gruber Syndrome "A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations." C165258 Cellosaurus Disease Terminology C134571 Medaka Hepatoma Medaka Hepatoma Oryzias latipes Hepatoma Hepatoma that occurs in Oryzias latipes. C165258 Cellosaurus Disease Terminology C134572 Medaka Melanoma Medaka Melanoma Oryzias latipes Melanoma Melanoma that occurs in Oryzias latipes. C165258 Cellosaurus Disease Terminology C6619 Mediastinal Leiomyosarcoma Mediastinal Leiomyosarcoma Leiomyosarcoma of Mediastinum || Leiomyosarcoma of the Mediastinum "An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells." C165258 Cellosaurus Disease Terminology C6812 Mediastinal Seminoma Mediastinal Seminoma Seminoma of Mediastinum || Seminoma of the Mediastinum "An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors." C165258 Cellosaurus Disease Terminology C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency Medium-Chain Acyl-CoA Dehydrogenase Deficiency "Acyl-CoA Dehydrogenase, Medium-Chain Deficiency || Medium-Chain Acyl-CoA Dehydrogenase Deficiency || Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency" "A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy." C165258 Cellosaurus Disease Terminology C3222 Medulloblastoma Medulloblastoma "A malignant, invasive embryonal neoplasm arising from the cerebellum or posterior fossa. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." C165258 Cellosaurus Disease Terminology C129445 "Medulloblastoma, Non-WNT/Non-SHH, Group 3" "Medulloblastoma, Non-WNT/Non-SHH, Group 3" Medulloblastoma not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway. MYC amplifications may be present. TP53 mutations are absent. Patients in this group are usually young children. The overall survival is the worst among all the molecular groups. C165258 Cellosaurus Disease Terminology C129446 "Medulloblastoma, Non-WNT/Non-SHH, Group 4" "Medulloblastoma, Non-WNT/Non-SHH, Group 4" Medulloblastoma not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway. MYC amplifications are absent. TP53 mutations are absent. Chromosome 17 abnormalities may be present. C165258 Cellosaurus Disease Terminology C129442 "Medulloblastoma, SHH-Activated, TP53-Mutant" "Medulloblastoma, SHH-Activated, TP53-Mutant" Medulloblastoma associated with activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. C165258 Cellosaurus Disease Terminology C129443 "Medulloblastoma, SHH-Activated, TP53-Wildtype" "Medulloblastoma, SHH-Activated, TP53-Wildtype" Medulloblastoma associated with activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. C165258 Cellosaurus Disease Terminology C129440 "Medulloblastoma, WNT-Activated" "Medulloblastoma, WNT-Activated" A molecular subtype of medulloblastoma associated with activation of the WNT pathway. TP53 mutations may be present or absent. WNT pathway activation in medulloblastomas is associated with good outcome. C165258 Cellosaurus Disease Terminology C187989 Meester-Loeys Syndrome Meester-Loeys Syndrome "An X-linked condition caused by mutation(s) in the BGN gene, encoding biglycan. It is characterized by cardiovascular defects and abnormal facies." C165258 Cellosaurus Disease Terminology C3224 Melanoma Melanoma Malignant Melanoma "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." C165258 Cellosaurus Disease Terminology C3717 Melanotic Neuroectodermal Tumor Melanotic Neuroectodermal Tumor Infantile Melanotic Neuroectodermal Neoplasm || Melanotic Neuroectodermal Tumor of Infancy || Pigmented Neuroectodermal Tumor "A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course." C165258 Cellosaurus Disease Terminology C98983 Melnick-Fraser Syndrome Melnick-Fraser Syndrome Branchio-oto-renal Syndrome "An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities." C165258 Cellosaurus Disease Terminology C185243 Meniere Disease Meniere Disease Idiopathic Endolymphatic Hydrops "A chronic inner ear disorder affecting balance and hearing. Symptoms may include vertigo, tinnitus, and hearing loss." C165258 Cellosaurus Disease Terminology C6891 Meningeal Melanomatosis Meningeal Melanomatosis Leptomeningeal Melanomatosis A meningeal melanoma with secondary diffuse meningeal spread. (WHO) C165258 Cellosaurus Disease Terminology C3230 Meningioma Meningioma "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade 1 tumors, and some are WHO grade 2 or 3 tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" C165258 Cellosaurus Disease Terminology C4329 Meningothelial Meningioma Meningothelial Meningioma Meningotheliomatous Meningioma A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present. C165258 Cellosaurus Disease Terminology C75486 Menkes Disease Menkes Disease Kinky Hair Syndrome || Menkes Kinky Hair Syndrome "An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair." C165258 Cellosaurus Disease Terminology C84392 Mental Retardation Mental Retardation A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. C165258 Cellosaurus Disease Terminology C141424 "Mental Retardation, Autosomal Dominant 1" "Mental Retardation, Autosomal Dominant 1" MRD1 "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." C165258 Cellosaurus Disease Terminology C160662 "Mental Retardation, Autosomal Dominant 28" "Mental Retardation, Autosomal Dominant 28" ADNP Syndrome || Autosomal Dominant Mental Retardation 28 || Helsmoortel-Van Der AA Syndrome C165258 Cellosaurus Disease Terminology C156309 "Mental Retardation, Autosomal Dominant 39" "Mental Retardation, Autosomal Dominant 39" "An autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features." C165258 Cellosaurus Disease Terminology C163754 "Mental Retardation, Autosomal Dominant 40" "Mental Retardation, Autosomal Dominant 40" "An autosomal dominant condition caused by mutation(s) in the CHAMP1 gene, encoding chromosome alignment-maintaining phosphoprotein 1. It is characterized by moderate to severe intellectual disability with poor speech acquisition. Variable dysmorphic features may be present as well." C165258 Cellosaurus Disease Terminology C178414 "Mental Retardation, Autosomal Dominant 5" "Mental Retardation, Autosomal Dominant 5" "An autosomal dominant condition caused by mutation(s) in the SYNGAP1 gene, encoding Ras/Rap GTPase-activating protein SynGAP. It is characterized by intellectual disability, with most patients developing generalized epilepsy, with some having autism spectrum disorder." C165258 Cellosaurus Disease Terminology C179708 "Mental Retardation, Autosomal Dominant 7" "Mental Retardation, Autosomal Dominant 7" "An autosomal dominant condition caused by mutation(s) in the DYRK1A gene, encoding dual specificity tyrosine-phosphorylation-regulated kinase 1A. It is characterized by moderate-severe intellectual disability and typical facial dysmorphisms." C165258 Cellosaurus Disease Terminology C133742 "Mental Retardation, Autosomal Dominant 9" "Mental Retardation, Autosomal Dominant 9" NESCAV Syndrome "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." C165258 Cellosaurus Disease Terminology C153179 "Mental Retardation, Autosomal Recessive 34" "Mental Retardation, Autosomal Recessive 34" "Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly" "An autosomal recessive condition caused by mutation(s) in the CRADD gene, encoding death domain-containing protein CRADD. It is characterized by mild to moderate intellectual disability and lissencephaly with anterior-predominant pachygyria." C165258 Cellosaurus Disease Terminology C181001 "Mental Retardation, X-Linked Syndromic, Christianson Type" "Mental Retardation, X-Linked Syndromic, Christianson Type" "Christianson Syndrome || X-Linked Syndromic Cognitive Disability, Christianson Type" "An X-linked dominant condition caused by mutation(s) in the SLC9A6 gene, encoding sodium/hydrogen exchanger 6. It is characterized by intellectual disability, delayed development, and difficulty standing or walking." C165258 Cellosaurus Disease Terminology C157122 "Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type" "Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type" "Borjeson-Forssman-Lehmann Syndrome || Mental Retardation, Epilepsy, and Endocrine Disorders" "An X-linked recessive condition caused by mutation(s) in the PHF6 gene, encoding PHD finger protein 6. It is characterized by severe intellectual disability, epilepsy, hypogonadism, hypometabolism, and obesity." C165258 Cellosaurus Disease Terminology C167216 "Mental Retardation, X-Linked, Syndromic, Cabezas Type" "Mental Retardation, X-Linked, Syndromic, Cabezas Type" "Cabezas Syndrome || Mental Retardation, X-Linked, Syndromic 15 || Mental Retardation, X-Linked, with Short Stature || Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait" "An X-linked recessive condition caused by mutations(s) in the CUL4B gene on chromosome Xq23, encoding a core component of the E3 ubiquitin ligase complex. It is characterized by short stature, hypogonadism, and abnormal gait." C165258 Cellosaurus Disease Terminology C133729 "Mental Retardation, X-linked 1" "Mental Retardation, X-linked 1" Nonsyndromic X-Linked Cognitive Disability "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities." C165258 Cellosaurus Disease Terminology C129931 "Mental Retardation, X-linked 102" "Mental Retardation, X-linked 102" "An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features." C165258 Cellosaurus Disease Terminology C179707 "Mental Retardation, X-linked 21/34" "Mental Retardation, X-linked 21/34" "An X-linked recessive condition caused by mutation(s) in the IL1RAPL1 gene, encoding interleukin-1 receptor accessory protein-like 1. It is characterized by intellectual disability ranging from moderate mental retardation to high-functioning autism." C165258 Cellosaurus Disease Terminology C9231 Merkel Cell Carcinoma Merkel Cell Carcinoma Cutaneous Apudoma || Cutaneous Neuroendocrine Carcinoma || Neuroendocrine Carcinoma of Skin || Neuroendocrine Carcinoma of the Skin || Neuroendocrine Skin Carcinoma || Trabecular Skin Carcinoma "A rare malignant cutaneous tumor seen in elderly patients. Its usual location is on the head, neck and extremities. The tumor is composed of small round cells with scanty cytoplasm arranged in a trabecular pattern, or in ill-defined nodules or in a diffuse pattern. The tumor cells contain cytoplasmic membrane-bound dense core granules resembling neurosecretory granules. There is strong evidence implicating Merkel cell polyomavirus in a majority of cases of Merkel cell carcinoma." C165258 Cellosaurus Disease Terminology C118783 Merosin-Deficient Congenital Muscular Dystrophy Type 1A Merosin-Deficient Congenital Muscular Dystrophy Type 1A MDC1A "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the LAMA2 gene. It is characterized by severe hypotonia, muscle weakness, elevated levels of serum creatinine kinase, and white matter abnormalities." C165258 Cellosaurus Disease Terminology C61251 Metachromatic Leukodystrophy Metachromatic Leukodystrophy "An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia." C165258 Cellosaurus Disease Terminology C4124 Metastatic Adenocarcinoma Metastatic Adenocarcinoma An adenocarcinoma that has spread from its original site of growth to another anatomic site. C165258 Cellosaurus Disease Terminology C76328 Metastatic Breast Lobular Carcinoma Metastatic Breast Lobular Carcinoma Metastatic Lobular Breast Carcinoma A lobular breast carcinoma that has spread from the original site of growth to another anatomic site. C165258 Cellosaurus Disease Terminology C158913 Metastatic Prostate Neuroendocrine Carcinoma Metastatic Prostate Neuroendocrine Carcinoma A neuroendocrine carcinoma that arises from the prostate gland and has spread to other anatomic sites. C165258 Cellosaurus Disease Terminology C175209 Metatropic Dysplasia Metatropic Dysplasia "An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by a variable phenotype, which may include short limbs, kyphoscoliosis, and other skeletal abnormalities." C165258 Cellosaurus Disease Terminology C123435 Methionine Adenosyltransferase Deficiency Methionine Adenosyltransferase Deficiency "Hypermethioninemia, Isolated Persistent || Isolated Persistent Hypermethioninemia || MAT Deficiency || MAT I/III Deficiency" A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities. C165258 Cellosaurus Disease Terminology C98674 Methylcrotonyl-CoA Carboxylase Deficiency Methylcrotonyl-CoA Carboxylase Deficiency 3-MCC Deficiency || 3-Methylcrotonyl-CoA Carboxylase Deficiency "An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma." C165258 Cellosaurus Disease Terminology C98986 Methylmalonic Acidemia Methylmalonic Acidemia Methylmalonic Aciduria "A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease." C165258 Cellosaurus Disease Terminology C183527 "Methylmalonic Acidemia, TcblR Type" "Methylmalonic Acidemia, TcblR Type" "Methylmalonic Aciduria due to Transcobalamin Receptor Defect || Methylmalonic Aciduria, Transient, due to Transcobalamin Receptor Defect" "A genetic condition characterized by methylmalonic aciduria, caused by mutation(s) in the CD320 gene, encoding CD320 antigen." C165258 Cellosaurus Disease Terminology C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency "Methylmalonic Aciduria, Mut Type" "An autosomal recessive form of methylmalonic aciduria caused by mutation(s) in the MUT gene, encoding methylmalonyl-CoA mutase, mitochondrial." C165258 Cellosaurus Disease Terminology C142174 "Methylmalonic Aciduria and Homocystinuria, cblC Type" "Methylmalonic Aciduria and Homocystinuria, cblC Type" "An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the MMACHC gene, encoding methylmalonic aciduria and homocystinuria type C protein." C165258 Cellosaurus Disease Terminology C183524 "Methylmalonic Aciduria and Homocystinuria, cblD Type" "Methylmalonic Aciduria and Homocystinuria, cblD Type" "An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the MMADHC gene, encoding cobalamin trafficking protein CblD." C165258 Cellosaurus Disease Terminology C183525 "Methylmalonic Aciduria and Homocystinuria, cblF Type" "Methylmalonic Aciduria and Homocystinuria, cblF Type" "An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the LMBRD1 gene, encoding lysosomal cobalamin transport escort protein LMBD1." C165258 Cellosaurus Disease Terminology C183526 "Methylmalonic Aciduria and Homocystinuria, cblJ Type" "Methylmalonic Aciduria and Homocystinuria, cblJ Type" "An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4." C165258 Cellosaurus Disease Terminology C142171 "Methylmalonic Aciduria, cblA Type" "Methylmalonic Aciduria, cblA Type" "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." C165258 Cellosaurus Disease Terminology C142172 "Methylmalonic Aciduria, cblB Type" "Methylmalonic Aciduria, cblB Type" "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." C165258 Cellosaurus Disease Terminology C84890 Mevalonate Kinase Deficiency Mevalonate Kinase Deficiency Mevalonic Aciduria "A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy." C165258 Cellosaurus Disease Terminology C85874 Microcephaly Microcephaly A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. C165258 Cellosaurus Disease Terminology C129306 "Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1" "Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1" "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." C165258 Cellosaurus Disease Terminology C125485 Microcornea Microcornea A congenital abnormality characterized by an abnormally small cornea. The horizontal corneal diameter is less than 10mm or less than 9mm in newborns. It is associated with an increased risk of glaucoma. C165258 Cellosaurus Disease Terminology C6422 Midgut Neuroendocrine Tumor G1 Midgut Neuroendocrine Tumor G1 Midgut Carcinoid Tumor "A well-differentiated, low grade neoplasm with neuroendocrine differentiation that arises from the jejunum, ileum, proximal colon, or appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." C165258 Cellosaurus Disease Terminology C89715 Migraine Migraine Migraine Headache "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." C165258 Cellosaurus Disease Terminology C159654 Mild Non-BH4-Deficient Hyperphenylalaninemia Mild Non-BH4-Deficient Hyperphenylalaninemia "An autosomal recessive condition caused by mutation(s) in the DNAJC12 gene, encoding dnaJ homolog subfamily C member 12. It is characterized by increased serum phenylalanine concentrations resulting in variable neurologic defects, including movement defects and intellectual disability. BH4 metabolism is normal." C165258 Cellosaurus Disease Terminology C124852 Miller-Dieker Syndrome Miller-Dieker Syndrome Miller-Dieker Lissencephaly Syndrome "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." C165258 Cellosaurus Disease Terminology C150608 Minicore Myopathy with External Ophthalmoplegia Minicore Myopathy with External Ophthalmoplegia "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as ""minicores"" on ATPase staining as a result of focal defects in oxidative activity." C165258 Cellosaurus Disease Terminology C2923 Minimally Invasive Lung Adenocarcinoma Minimally Invasive Lung Adenocarcinoma "A solitary adenocarcinoma arising from the lung and measuring 3 cm or less in size. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous." C165258 Cellosaurus Disease Terminology C5976 Minor Salivary Gland Carcinoma ex Pleomorphic Adenoma Minor Salivary Gland Carcinoma ex Pleomorphic Adenoma Carcinoma ex Pleomorphic Adenoma of Minor Salivary Gland || Carcinoma ex Pleomorphic Adenoma of the Minor Salivary Gland "A carcinoma that arises from a pleomorphic adenoma in the minor salivary glands. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." C165258 Cellosaurus Disease Terminology C176895 "Mitochondrial Complex IV Deficiency, Nuclear Type 1" "Mitochondrial Complex IV Deficiency, Nuclear Type 1" "An autosomal recessive condition caused by mutation(s) in the SURF1 gene, encoding surfeit locus protein 1. It is characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills with onset between 5 and 18 months of age. It is one of several types of cytochrome c oxidase deficiencies caused by mutation(s) in nuclear encoded or mitochondrial encoded genes." C165258 Cellosaurus Disease Terminology C186788 "Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1" "Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1" "Mitochondrial Complex V Deficiency, Mitochondrial Type 1" "A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase)." C165258 Cellosaurus Disease Terminology C129977 Mitochondrial DNA Depletion Syndrome 12 Mitochondrial DNA Depletion Syndrome 12 "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." C165258 Cellosaurus Disease Terminology C172095 Mitochondrial DNA Depletion Syndrome 13 Mitochondrial DNA Depletion Syndrome 13 "An autosomal recessive condition caused by mutation(s) in the FBXL4 gene, encoding F-box and leucine rich repeat protein 4. It is characterized by early-onset lactic acidosis, growth failure, encephalopathy, hypotonia, and developmental delay." C165258 Cellosaurus Disease Terminology C185236 Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) "An autosomal recessive subtype of mitochondrial depletion syndrome caused by mutation(s) in the TK2 gene, encoding thymidine kinase 2, mitochondrial. It is characterized by muscle weakness associated with mtDNA depletion in skeletal muscle." C165258 Cellosaurus Disease Terminology C183531 Mitochondrial DNA Depletion Syndrome-9 Mitochondrial DNA Depletion Syndrome-9 "A autosomal recessive condition caused by mutation(s) in the SUCLG1 gene, encoding succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial. It is characterized by infantile onset of hypotonia, lactic acidosis, developmental delay, cognitive impairment, and excretion of methylmalonic acid." C165258 Cellosaurus Disease Terminology C131859 Mitochondrial Diabetes Mitochondrial Diabetes Diabetes mellitus caused by mutation(s) in mitochondrial DNA. C165258 Cellosaurus Disease Terminology C101328 Mitochondrial Myopathy Mitochondrial Myopathy Myopathy caused by mitochondrial abnormalities. C165258 Cellosaurus Disease Terminology C174218 Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency "An autosomal recessive condition caused by mutation(s) in the ECHS1 gene, encoding enoyl-CoA hydratase, mitochondrial. The condition represents a clinical spectrum in which there are multiple phenotypes." C165258 Cellosaurus Disease Terminology C98991 Mitochondrial Trifunctional Protein Deficiency Mitochondrial Trifunctional Protein Deficiency "A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death." C165258 Cellosaurus Disease Terminology C148321 Mitochondrially Inherited Nonsyndromic Sensorineural Deafness Mitochondrially Inherited Nonsyndromic Sensorineural Deafness A maternally inherited form of nonsyndromic sensorineural deafness that is caused by a mutation in any of several mitochondrial genes. C165258 Cellosaurus Disease Terminology C3756 Mixed Embryonal Carcinoma and Teratoma Mixed Embryonal Carcinoma and Teratoma Teratocarcinoma A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component. C165258 Cellosaurus Disease Terminology C82179 Mixed Phenotype Acute Leukemia Mixed Phenotype Acute Leukemia "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." C165258 Cellosaurus Disease Terminology C82192 Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR::ABL1 || Mixed Phenotype Acute Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 A rare mixed phenotype acute leukemia in which the blasts also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. The prognosis is usually unfavorable. C165258 Cellosaurus Disease Terminology C118846 Miyoshi Muscular Dystrophy 1 Miyoshi Muscular Dystrophy 1 MMD1 "A rare, autosomal recessive inherited skeletal muscle disorder caused by mutation in the dysferlin gene. It affects young adults and is characterized by weakness and atrophy in the muscles of the upper and lower limbs." C165258 Cellosaurus Disease Terminology C84893 Mobius Syndrome Mobius Syndrome Moebius Syndrome || Möbius Syndrome A very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally. C165258 Cellosaurus Disease Terminology C129076 Molybdenum Cofactor Deficiency Molybdenum Cofactor Deficiency "An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features." C165258 Cellosaurus Disease Terminology C3996 Monoclonal Gammopathy of Undetermined Significance Monoclonal Gammopathy of Undetermined Significance Monoclonal Gammopathy of Undetermined Significance (MGUS) A condition in which an abnormal amount of a single immunoglobulin is present in the serum. This category includes IgM monoclonal gammopathy of undetermined significance and non-IgM monoclonal gammopathy of undetermined significance. Up to 25% of cases of monoclonal gammopathy of undetermined significance progress to a B-cell malignancy or myeloma. C165258 Cellosaurus Disease Terminology C129739 Monogenic Diabetes Monogenic Diabetes "Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood." C165258 Cellosaurus Disease Terminology C6534 Monophasic Synovial Sarcoma Monophasic Synovial Sarcoma Monophasic Sarcoma of Synovium || Monophasic Sarcoma of the Synovium A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only. C165258 Cellosaurus Disease Terminology C34858 Morbid Obesity Morbid Obesity "An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight." C165258 Cellosaurus Disease Terminology C61263 Morquio Syndrome Morquio Syndrome Mucopolysaccharidosis IV || Mucopolysaccharidosis Type IV "A rare autosomal recessive lysosomal storage disease characterized by abnormal skeletal developments, dwarfism, heart disorders, and central nervous system deficits." C165258 Cellosaurus Disease Terminology C128192 Mosaic Variegated Aneuploidy Syndrome 1 Mosaic Variegated Aneuploidy Syndrome 1 "An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The condition is characterized by a predisposition to mitotic non-disjunction, resulting in a high percentage of aneuploid cells. The phenotype is variable and there is a predisposition to cancer." C165258 Cellosaurus Disease Terminology C168989 Mosaic Variegated Aneuploidy Syndrome 2 Mosaic Variegated Aneuploidy Syndrome 2 "An autosomal recessive condition caused by mutation(s) in the CEP57 gene, encoding centrosomal protein of 57 kDa. It is characterized by variable phenotypes, associated with mosaic aneuploidies." C165258 Cellosaurus Disease Terminology C22992 Mouse Adrenal Cortical Carcinoma Mouse Adrenal Cortical Carcinoma Mouse Adrenal Cortex Carcinoma C165258 Cellosaurus Disease Terminology C134960 Mouse Adrenal Gland Pheochromocytoma Mouse Adrenal Gland Pheochromocytoma A pheochromocytoma that occurs in the adrenal gland of a mouse. C165258 Cellosaurus Disease Terminology C24016 Mouse Angiosarcoma Mouse Angiosarcoma C165258 Cellosaurus Disease Terminology C21932 Mouse Astrocytic Tumours Mouse Astrocytic Tumours C165258 Cellosaurus Disease Terminology C134570 Mouse Basal Cell Carcinoma Mouse Basal Cell Carcinoma Basal Cell carcinoma that occurs in a mouse. C165258 Cellosaurus Disease Terminology C25823 Mouse Bladder Transitional Cell Carcinoma Mouse Bladder Transitional Cell Carcinoma C165258 Cellosaurus Disease Terminology C24068 Mouse Cervical Carcinoma Mouse Cervical Carcinoma C165258 Cellosaurus Disease Terminology C24077 Mouse Cervical Squamous Cell Carcinoma Mouse Cervical Squamous Cell Carcinoma C165258 Cellosaurus Disease Terminology C24018 Mouse Chondrosarcoma Mouse Chondrosarcoma C165258 Cellosaurus Disease Terminology C120044 Mouse Colon Adenocarcinoma Mouse Colon Adenocarcinoma Adenocarcinoma of Mouse Colon || Mouse Model of Colon Adenocarcinoma An adenocarcinoma arising from the colon of a mouse. It can be used as a mouse model of the human disease. C165258 Cellosaurus Disease Terminology C21951 Mouse Ependymoma Mouse Ependymoma C165258 Cellosaurus Disease Terminology C21895 Mouse Erythroid Leukemia Mouse Erythroid Leukemia C165258 Cellosaurus Disease Terminology C24017 Mouse Fibrosarcoma Mouse Fibrosarcoma C165258 Cellosaurus Disease Terminology C24227 Mouse Gastric Adenocarcinoma Mouse Gastric Adenocarcinoma C165258 Cellosaurus Disease Terminology C24225 Mouse Gastric Carcinoma Mouse Gastric Carcinoma C165258 Cellosaurus Disease Terminology C24234 Mouse Gastric Squamous Cell Carcinoma Mouse Gastric Squamous Cell Carcinoma C165258 Cellosaurus Disease Terminology C21962 Mouse Glial Tumours of Uncertain Origin Mouse Glial Tumours of Uncertain Origin C165258 Cellosaurus Disease Terminology C21938 Mouse Glioblastoma Mouse Glioblastoma C165258 Cellosaurus Disease Terminology C24000 Mouse Granulosa Cell Tumor Mouse Granulosa Cell Tumor C165258 Cellosaurus Disease Terminology C21634 Mouse Hibernoma Mouse Hibernoma C165258 Cellosaurus Disease Terminology C21886 Mouse Histiocytic Sarcoma Mouse Histiocytic Sarcoma C165258 Cellosaurus Disease Terminology C134996 Mouse Histiocytic and Dendritic Cell Neoplasm Mouse Histiocytic and Dendritic Cell Neoplasm A tumor arising from histiocytes and dendritic cells and occurring in a mouse. C165258 Cellosaurus Disease Terminology C34053 Mouse Insulinoma Mouse Insulinoma C165258 Cellosaurus Disease Terminology C34051 Mouse Islet Cell Adenoma Mouse Islet Cell Adenoma C165258 Cellosaurus Disease Terminology C34050 Mouse Islet Cell Neoplasm Mouse Islet Cell Neoplasm C165258 Cellosaurus Disease Terminology C124802 Mouse Kidney Carcinoma Mouse Kidney Carcinoma A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis of a mouse. C165258 Cellosaurus Disease Terminology C21604 Mouse Leukemia Mouse Leukemia C165258 Cellosaurus Disease Terminology C134947 Mouse Leydig Cell Tumor Mouse Leydig Cell Tumor A Leydig cell tumor that occurs in a mouse. C165258 Cellosaurus Disease Terminology C188988 Mouse Lung Small Cell Carcinoma Mouse Lung Small Cell Carcinoma Murine Lung Small Cell Carcinoma A small cell lung carcinoma occurring in a mouse. C165258 Cellosaurus Disease Terminology C21602 Mouse Lymphoma Mouse Lymphoma C165258 Cellosaurus Disease Terminology C30037 Mouse Malignant Ovarian Neoplasm Mouse Malignant Ovarian Neoplasm C165258 Cellosaurus Disease Terminology C187985 Mouse Mantle Cell Lymphoma Mouse Mantle Cell Lymphoma Mantle cell lymphoma occurring in a mouse. C165258 Cellosaurus Disease Terminology C21632 Mouse Mast Cell Neoplasm Mouse Mast Cell Neoplasm C165258 Cellosaurus Disease Terminology C24170 Mouse Medullary Thyroid Carcinoma Mouse Medullary Thyroid Carcinoma Mouse C Cell Carcinoma || Mouse Medullary Carcinoma of the Thyroid Gland || Mouse Thyroid Gland Parafollicular Cell Carcinoma Thyroid gland carcinoma that arises from parafollicular cells (C cells) and occurs in a mouse. C165258 Cellosaurus Disease Terminology C21790 Mouse Melanoma Mouse Melanoma C165258 Cellosaurus Disease Terminology C21619 Mouse Mesothelioma Mouse Mesothelioma C165258 Cellosaurus Disease Terminology C21894 Mouse Monocytic Leukemia Mouse Monocytic Leukemia C165258 Cellosaurus Disease Terminology C21889 Mouse Myeloid Leukemia Mouse Myeloid Leukemia C165258 Cellosaurus Disease Terminology C23988 Mouse Neoplasms Mouse Neoplasms C165258 Cellosaurus Disease Terminology C24006 Mouse Neural Cell Neoplasm Mouse Neural Cell Neoplasm C165258 Cellosaurus Disease Terminology C21993 Mouse Neuroblastoma Mouse Neuroblastoma C165258 Cellosaurus Disease Terminology C21600 Mouse Neuroglia Neoplasm Mouse Neuroglia Neoplasm C165258 Cellosaurus Disease Terminology C24021 Mouse Osteosarcoma Mouse Osteosarcoma C165258 Cellosaurus Disease Terminology C30056 Mouse Ovarian Histiocytic Sarcoma Mouse Ovarian Histiocytic Sarcoma C165258 Cellosaurus Disease Terminology C33903 Mouse Ovarian Serous Adenocarcinoma Mouse Ovarian Serous Adenocarcinoma C165258 Cellosaurus Disease Terminology C34036 Mouse Pancreatic Acinar Neoplasm Mouse Pancreatic Acinar Neoplasm C165258 Cellosaurus Disease Terminology C34041 Mouse Pancreatic Ductal Adenocarcinoma Mouse Pancreatic Ductal Adenocarcinoma C165258 Cellosaurus Disease Terminology C34045 Mouse Pancreatic Intraepithelial Neoplasia-1 Mouse Pancreatic Intraepithelial Neoplasia-1 C165258 Cellosaurus Disease Terminology C34035 Mouse Pancreatic Neoplasm Mouse Pancreatic Neoplasm C165258 Cellosaurus Disease Terminology C24015 Mouse Papilloma Mouse Papilloma C165258 Cellosaurus Disease Terminology C24037 Mouse Pituitary Gland Neoplasms Mouse Pituitary Gland Neoplasms C165258 Cellosaurus Disease Terminology C125417 Mouse Plasma Cell Myeloma Mouse Plasma Cell Myeloma Plasma cell myeloma occurring in a mouse. C165258 Cellosaurus Disease Terminology C21631 Mouse Plasmacytoma Mouse Plasmacytoma C165258 Cellosaurus Disease Terminology C21925 Mouse Precursor T Cell Lymphoblastic Lymphoma/Leukemia Mouse Precursor T Cell Lymphoblastic Lymphoma/Leukemia C165258 Cellosaurus Disease Terminology C134779 Mouse Rectum Carcinoma Mouse Rectum Carcinoma Carcinoma that occurs in the rectum of a mouse. C165258 Cellosaurus Disease Terminology C134780 Mouse Reticulum Cell Sarcoma Mouse Reticulum Cell Sarcoma Reticulum cell sarcoma that occurs in a mouse. C165258 Cellosaurus Disease Terminology C24022 Mouse Rhabdomyosarcoma Mouse Rhabdomyosarcoma C165258 Cellosaurus Disease Terminology C21603 Mouse Sarcoma Mouse Sarcoma C165258 Cellosaurus Disease Terminology C21997 Mouse Schwannoma Mouse Schwannoma C165258 Cellosaurus Disease Terminology C21613 Mouse Spindle Cell Neoplasm Mouse Spindle Cell Neoplasm C165258 Cellosaurus Disease Terminology C21609 Mouse Squamous Cell Carcinoma Mouse Squamous Cell Carcinoma C165258 Cellosaurus Disease Terminology C134961 Mouse Submandibular Gland Neoplasm Mouse Submandibular Gland Neoplasm A tumor arising in the submandibular gland of a mouse. C165258 Cellosaurus Disease Terminology C129859 Mouse Teratocarcinoma Mouse Teratocarcinoma "A malignant germ-cell neoplasm arising from pluripotent cells, including components from the epithelial germ-cell layer, which occurs in a mouse." C165258 Cellosaurus Disease Terminology C128123 Mouse Testicular Teratoma Mouse Testicular Teratoma "A non-seminomatous germ cell tumor arising from the testis of a mouse, characterized by the presence of various tissues corresponding to the different germinal layers (endoderm, mesoderm, and ectoderm)." C165258 Cellosaurus Disease Terminology C134997 Mouse Thymic Lymphoma Mouse Thymic Lymphoma A lymphoma that arises in the thymus of a mouse. C165258 Cellosaurus Disease Terminology C125660 Mouse Trisomy 16 Mouse Trisomy 16 A mouse chromosomal abnormality consisting of the presence of a third copy of chromosome 16 in somatic cells. Mice that are trisomic for chromosome 16 offer a genetic model for studies relevant to Down syndrome. C165258 Cellosaurus Disease Terminology C25806 Mouse Urinary Tract Neoplasm Mouse Urinary Tract Neoplasm C165258 Cellosaurus Disease Terminology C74999 Mowat-Wilson Syndrome Mowat-Wilson Syndrome "A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, prominent chin, and a smiling expression). The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage)." C165258 Cellosaurus Disease Terminology C84895 Moyamoya Disease Moyamoya Disease "A rare inherited vascular disorder characterized by constriction of arteries at the base of the brain, resulting in the formation of collateral circulation in order to compensate for the constriction. The name ""moyamoya"" in Japanese means ""puff of smoke"" and derives from the characteristic radiographic appearance of the collateral vessels." C165258 Cellosaurus Disease Terminology C183312 Moyamoya Disease 2 Moyamoya Disease 2 "An autosomally inherited subtype of moyamoya disease often presenting in childhood caused by mutation(s) in the RNF213 gene, encoding E3 ubiquitin-protein ligase RNF213." C165258 Cellosaurus Disease Terminology C129978 Mucolipidosis Type III Gamma Mucolipidosis Type III Gamma Mucolipidosis III Gamma "An autosomal recessive condition caused by mutation(s) in the GNPTAG gene, encoding N-acetylglucosamine-1-phosphotransferase subunit gamma. It is characterized by a slowing of the growth rate in childhood, joint stiffness, mild cognitive impairment, and cardiorespiratory insufficiency." C165258 Cellosaurus Disease Terminology C125595 Mucolipidosis Type IIIA Mucolipidosis Type IIIA "A lysosomal storage disease characterized by multiple bone formation abnormalities, progressive joint stiffness, developmental abnormalities, hearing loss, hepatosplenomegaly, increased acne, enlarged tongue, and cornea clouding due to accumulation of lipid substances." C165258 Cellosaurus Disease Terminology C84896 Mucolipidosis Type IV Mucolipidosis Type IV An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities. C165258 Cellosaurus Disease Terminology C61259 Mucopolysaccharidosis Mucopolysaccharidosis "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." C165258 Cellosaurus Disease Terminology C84897 Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIA Sanfilippo A "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." C165258 Cellosaurus Disease Terminology C84898 Mucopolysaccharidosis Type IIIB Mucopolysaccharidosis Type IIIB Sanfilippo B "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." C165258 Cellosaurus Disease Terminology C84899 Mucopolysaccharidosis Type IIIC Mucopolysaccharidosis Type IIIC Sanfilippo C "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." C165258 Cellosaurus Disease Terminology C84900 Mucopolysaccharidosis Type IIID Mucopolysaccharidosis Type IIID Sanfilippo D "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." C165258 Cellosaurus Disease Terminology C84901 Mucopolysaccharidosis Type IVA Mucopolysaccharidosis Type IVA A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. C165258 Cellosaurus Disease Terminology C84902 Mucopolysaccharidosis Type IVB Mucopolysaccharidosis Type IVB A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. C165258 Cellosaurus Disease Terminology C129073 Mucopolysaccharidosis Type IX Mucopolysaccharidosis Type IX Hyaluronidase Deficiency "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." C165258 Cellosaurus Disease Terminology C114828 Mucosal Melanoma Mucosal Melanoma A melanoma that arises from a mucosal site. C165258 Cellosaurus Disease Terminology C84904 Muenke Syndrome Muenke Syndrome FGFR3-Related Craniosynostosis "A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes." C165258 Cellosaurus Disease Terminology C84905 Muir-Torre Syndrome Muir-Torre Syndrome "A usually autosomal dominant inherited neoplastic syndrome caused by mutations in the hMSH-2 and hMLH-1 genes. It is characterized by the presence of sebaceous skin tumors (adenoma or carcinoma), and internal organ malignant tumors, usually of the gastrointestinal or genitourinary tract." C165258 Cellosaurus Disease Terminology C84906 Mulibrey Nanism Mulibrey Nanism Perheentupa Syndrome "An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain." C165258 Cellosaurus Disease Terminology C178416 Multicentric Carpotarsal Osteolysis Syndrome Multicentric Carpotarsal Osteolysis Syndrome "An autosomal dominant condition caused by mutation(s) in the MAFB gene, encoding transcription factor MafB. It is characterized by progressive destruction of the carpal and tarsal bones, usually with onset in early childhood." C165258 Cellosaurus Disease Terminology C6470 Multifocal Osteosarcoma Multifocal Osteosarcoma Multicentric Osteosarcoma || Multifocal Osteogenic Sarcoma A primary bone osteosarcoma affecting multiple bone sites. C165258 Cellosaurus Disease Terminology C4524 Multilocular Cystic Renal Neoplasm of Low Malignant Potential Multilocular Cystic Renal Neoplasm of Low Malignant Potential A rare kidney neoplasm of low malignant potential. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. It usually presents as a unilateral solitary mass. C165258 Cellosaurus Disease Terminology C186307 Multiorgan Venous and Lymphatic Defect Syndrome Multiorgan Venous and Lymphatic Defect Syndrome "A genetic condition, caused by mutation(s) in the DDX24 gene, encoding ATP-dependent RNA helicase DDX24. It is associated with vascular stenosis of portal and hepatic veins and/or lymphatic vessels." C165258 Cellosaurus Disease Terminology C84907 Multiple Acyl-CoA Dehydrogenase Deficiency Multiple Acyl-CoA Dehydrogenase Deficiency Glutaric Acidemia Type 2 || Multiple Acyl Coenzyme A Dehydrogenase Deficiency "A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). Clinical presentations include congenital abnormalities (brain and facial malformations), hypotonia, dilated cardiomyopathy, hepatomegaly, metabolic acidosis, hypoglycemia, and behavioral changes." C165258 Cellosaurus Disease Terminology C176896 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Glycosylphosphatidylinositol Biosynthesis Defect 3 "An autosomal recessive condition caused by mutation(s) in the PIGN gene, encoding GPI ethanolamine phosphate transferase 1. Though the phenotype is variable, it may be characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems." C165258 Cellosaurus Disease Terminology C3225 Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 1 "MEA Type 1 || MEA Type I || MEN Type 1 || MEN Type I || Multiple Endocrine Adenomatosis Type 1 || Multiple Endocrine Adenomatosis Type I || Multiple Endocrine Adenomatosis, Type I || Multiple Endocrine Neoplasia Type I || Multiple Endocrine Neoplasia, Type I || Wermer Syndrome || Wermer's Syndrome" "Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors." C165258 Cellosaurus Disease Terminology C123329 Multiple Endocrine Neoplasia Type 2 Multiple Endocrine Neoplasia Type 2 "Multiple endocrine neoplasia caused by mutation of the RET gene. It includes the following neoplastic processes: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and hereditary thyroid gland medullary carcinoma." C165258 Cellosaurus Disease Terminology C3226 Multiple Endocrine Neoplasia Type 2A Multiple Endocrine Neoplasia Type 2A "MEA Type 2a || MEA Type II || MEN Type 2a || MEN Type II || Multiple Endocrine Adenomatosis Type 2A || Multiple Endocrine Adenomatosis Type 2a || Multiple Endocrine Adenomatosis Type II || Multiple Endocrine Adenomatosis, Type II || Multiple Endocrine Neoplasia Type 2a || Multiple Endocrine Neoplasia Type II || Multiple Endocrine Neoplasia, Type II" "Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia." C165258 Cellosaurus Disease Terminology C3227 Multiple Endocrine Neoplasia Type 2B Multiple Endocrine Neoplasia Type 2B "MEN Type 2B || MEN Type IIB || Multiple Endocrine Adenomatosis Type IIB || Multiple Endocrine Neoplasia Type 2b || Multiple Endocrine Neoplasia Type 3 || Multiple Endocrine Neoplasia Type IIB || Multiple Endocrine Neoplasia Type III || Multiple Endocrine Neoplasia, Type III" Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas. C165258 Cellosaurus Disease Terminology C3243 Multiple Sclerosis Multiple Sclerosis A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. C165258 Cellosaurus Disease Terminology C84908 Multiple Sulfatase Deficiency Disease Multiple Sulfatase Deficiency Disease "A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis." C165258 Cellosaurus Disease Terminology C84909 Multiple System Atrophy Multiple System Atrophy Shy-Drager Syndrome "A rare neurodegenerative disorder characterized by loss of autonomic nervous system functions and disturbances of motor, balance and muscle coordination." C165258 Cellosaurus Disease Terminology C129869 Multiple Vascular Disruption Syndrome Multiple Vascular Disruption Syndrome A rare syndrome that refers to a constellation of anomalies resulting from multiple vascular disruption. C165258 Cellosaurus Disease Terminology C84910 Muscular Dystrophy Muscular Dystrophy "A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy." C165258 Cellosaurus Disease Terminology C148369 "Muscular Dystrophy Congenital, LMNA-Related" "Muscular Dystrophy Congenital, LMNA-Related" "An autosomal recessive muscular dystrophy caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. Limb-girdle muscular dystrophy type 1B and Emery-Dreifuss muscular dystrophy-2 are allelic disorders with overlapping phenotypes." C165258 Cellosaurus Disease Terminology C128118 "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1" "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1" "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death." C165258 Cellosaurus Disease Terminology C126742 "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2" "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2" An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation. C165258 Cellosaurus Disease Terminology C126740 "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 3" "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 3" "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." C165258 Cellosaurus Disease Terminology C126741 "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4" "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4" "An autosomal recessive muscular dystrophy caused by mutations in the gene encoding fukutin (FKTN). It is associated with characteristic brain and eye malformations, seizures, and mental retardation." C165258 Cellosaurus Disease Terminology C126743 "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6" "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6" "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." C165258 Cellosaurus Disease Terminology C133730 "Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1" "Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1" LGMD2K || Limb-Girdle Muscular Dystrophy Type 2K "An autosomal recessive limb-girdle muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is characterized by mental retardation without structural brain abnormalities and limb-girdle muscular dystrophy." C165258 Cellosaurus Disease Terminology C126739 "Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5" "Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5" LGMD2I || Limb-Girdle Muscular Dystrophy Type 2I "An autosomal recessive inherited limb-girdle muscular dystrophy caused by mutations in the gene encoding fukutin-related protein (FKRP). It is characterized by variable age at onset, normal cognition, and no structural brain changes." C165258 Cellosaurus Disease Terminology C60989 Myasthenia Gravis Myasthenia Gravis A chronic autoimmune neuromuscular disorder characterized by skeletal muscle weakness. It is caused by the blockage of the acetylcholine receptors at the neuromuscular junction. C165258 Cellosaurus Disease Terminology C177546 "Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency" "Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency" "An autosomal recessive condition caused by mutation(s) in the RAPSN gene, encoding 43 kDa receptor-associated protein of the synapse. It is characterized by postsynaptic neuromuscular junction dysfunction resulting in muscle weakness of variable severity." C165258 Cellosaurus Disease Terminology C3246 Mycosis Fungoides Mycosis Fungoides "A peripheral (mature) T-cell lymphoma presenting in the skin with patches/plaques. It is characterized by epidermal and dermal infiltration of small to medium-sized T-cells with cerebriform nuclei. Patients with limited disease generally have an excellent prognosis. In the more advanced stages, the prognosis is poor. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C3247 Myelodysplastic Syndrome Myelodysplastic Syndrome Dysmyelopoietic Syndrome || Hematopoeitic - Myelodysplastic Syndrome (MDS) || Myelodysplasia || Myelodysplastic Neoplasm || Myelodysplastic Syndrome/Neoplasm || Oligoblastic Leukemia || Smoldering Leukemia "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C43223 Myeloid Leukemia Associated with Down Syndrome Myeloid Leukemia Associated with Down Syndrome "Acute myeloid leukemia or myelodysplastic syndrome occurring in children with Down syndrome. The acute myeloid leukemia is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation." C165258 Cellosaurus Disease Terminology C101201 Myelomeningocele Myelomeningocele Meningomyelocele || Spina Bifida Cystica A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C165258 Cellosaurus Disease Terminology C4345 Myeloproliferative Neoplasm Myeloproliferative Neoplasm Chronic Myeloproliferative Disorder || Chronic Myeloproliferative Neoplasm || Myeloproliferative Disease || Myeloproliferative Disorder || Myeloproliferative Tumor "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" C165258 Cellosaurus Disease Terminology C123815 Myhre Syndrome Myhre Syndrome "A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to moderate intellectual disability, hearing loss, skin stiffness, skeletal abnormalities, and typical facial features (short palpebral fissures, shortened distance between the nose and upper lip, midface hypoplasia, prognathism, cleft palate, and/or cleft lip)." C165258 Cellosaurus Disease Terminology C27996 Myocardial Infarction Myocardial Infarction Heart Attack || MI || Myocardial Infarct "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis." C165258 Cellosaurus Disease Terminology C84889 Myoclonic Epilepsy Associated with Ragged-Red Fibers Myoclonic Epilepsy Associated with Ragged-Red Fibers MERRF Syndrome A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. C165258 Cellosaurus Disease Terminology C179710 Myoclonic Epilepsy of Unverricht and Lundborg Myoclonic Epilepsy of Unverricht and Lundborg "Epilepsy, Progressive, Myoclonic 1A || Unverricht-Lundborg Disease" "An autosomal recessive condition caused by mutation(s) in the CSTB gene, encoding cystatin-B. It is characterized by progressive myoclonic epilepsy, with progression occurring between 6 and 13 years of age." C165258 Cellosaurus Disease Terminology C165674 Myoclonic-Atonic Epilepsy Myoclonic-Atonic Epilepsy Myoclonic-Atonic Seizure "An autosomal dominant condition caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1. It is characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures." C165258 Cellosaurus Disease Terminology C83009 Myofibrillar Myopathy Myofibrillar Myopathy An inherited or sporadic disorder affecting the skeletal muscles. C165258 Cellosaurus Disease Terminology C157504 Myopathy due to Myoadenylate Deaminase Deficiency Myopathy due to Myoadenylate Deaminase Deficiency "An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase." C165258 Cellosaurus Disease Terminology C6496 Myxofibrosarcoma Myxofibrosarcoma "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." C165258 Cellosaurus Disease Terminology C27781 Myxoid Liposarcoma Myxoid Liposarcoma Myxoid Liposarcoma || Myxoid/Round Cell Liposarcoma "A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma." C165258 Cellosaurus Disease Terminology C49025 Myxoinflammatory Fibroblastic Sarcoma Myxoinflammatory Fibroblastic Sarcoma "A low grade, locally aggressive, fibroblastic neoplasm that occurs primarily in the distal extremities. It is characterized by the presence of spindle-shaped fibroblasts, multivacuolated lipoblast-like cells, bizarre ganglion-like cells with inclusion-like nuclei, myxoid stroma formation, and a mixture of acute and chronic inflammatory cells. Distant metastases are very rare." C165258 Cellosaurus Disease Terminology C129307 N-Acetylglutamate Synthase Deficiency N-Acetylglutamate Synthase Deficiency "An autosomal recessive disorder caused by mutation(s) in the NAGS gene, encoding N-acetylglutamate synthase, mitochondrial. It may be characterized by failure to thrive, hyperammonemia, lethargy, seizures, and coma." C165258 Cellosaurus Disease Terminology C98994 NADH Dehydrogenase Deficiency NADH Dehydrogenase Deficiency "A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy." C165258 Cellosaurus Disease Terminology C45716 NUT Carcinoma NUT Carcinoma Carcinoma with t(15;19)(q13;p13.1) Translocation || Midline Carcinoma of Children and Young Adults with NUT Rearrangement || NUT Midline Carcinoma || Nuclear Protein in Testis (NUT) Midline Carcinoma || Nuclear Protein in Testis Midline Carcinoma "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." C165258 Cellosaurus Disease Terminology C3256 Nasal Cavity Polyp Nasal Cavity Polyp Nasal Polyp || Polyp of Nasal Cavity || Polyp of the Nasal Cavity A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection. C165258 Cellosaurus Disease Terminology C8192 Nasal Cavity Squamous Cell Carcinoma Nasal Cavity Squamous Cell Carcinoma Squamous Cell Carcinoma of Nasal Cavity || Squamous Cell Carcinoma of the Nasal Cavity "A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." C165258 Cellosaurus Disease Terminology C4684 Nasal Type Extranodal NK/T-Cell Lymphoma Nasal Type Extranodal NK/T-Cell Lymphoma "Angiocentric T-Cell Lymphoma || Extranodal NK/T-Cell Lymphoma, Nasal Type" "An aggressive, predominantly extranodal, mature T-cell non-Hodgkin lymphoma. It is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. The nasal cavity is the most common site of involvement. Patients often present with midfacial destructive lesions (lethal midline granuloma). The disease may disseminate rapidly to various anatomic sites including the gastrointestinal tract, skin, testis, and cervical lymph nodes. It is also known as angiocentric T-cell lymphoma. The term ""polymorphic reticulosis"" has been widely used to describe the morphologic changes seen in this type of lymphoma. However, the latter term may also apply to lymphomatoid granulomatosis, which is an angiocentric and angiodestructive EBV positive B-cell lymphoproliferative disorder." C165258 Cellosaurus Disease Terminology C3871 Nasopharyngeal Carcinoma Nasopharyngeal Carcinoma Cancer of Nasopharynx || Cancer of the Nasopharynx || Carcinoma of Nasopharynx || Carcinoma of the Nasopharynx || Nasopharyngeal Cancer "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma." C165258 Cellosaurus Disease Terminology C82217 Natural Killer Cell Lymphoblastic Leukemia/Lymphoma Natural Killer Cell Lymphoblastic Leukemia/Lymphoma NK Cell Lymphoblastic Leukemia/Lymphoma || NK Lymphoblastic Leukemia/Lymphoma || NK-Lymphoblastic Leukemia/Lymphoma || Precursor NK Cell Lymphoblastic Leukemia/Lymphoma || Precursor Natural Killer Cell Lymphoblastic Leukemia/Lymphoma "A precursor lymphoid neoplasm that expresses CD56 and immature T-cell markers, lacks B-lymphoid and myeloid markers, and has immunoglobulin and T-cell receptor genes in the germline configuration." C165258 Cellosaurus Disease Terminology C118784 Nemaline Myopathy 2 Nemaline Myopathy 2 NEM2 An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness. C165258 Cellosaurus Disease Terminology C129870 Nemaline Myopathy 3 Nemaline Myopathy 3 "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles." C165258 Cellosaurus Disease Terminology C164225 Nemaline Myopathy 4 Nemaline Myopathy 4 "An autosomal dominant myopathy caused by mutation(s) in the TPM2 gene, encoding tropomyosin beta chain. Classification of nemaline myopathies by clinical features is not optimal, as the phenotypes are highly variable." C165258 Cellosaurus Disease Terminology C129871 Nemaline Myopathy 8 Nemaline Myopathy 8 "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." C165258 Cellosaurus Disease Terminology C99251 Neonatal Adrenoleukodystrophy Neonatal Adrenoleukodystrophy "A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma." C165258 Cellosaurus Disease Terminology C101200 Neonatal Alloimmune Thrombocytopenia Neonatal Alloimmune Thrombocytopenia Thrombocytopenia that occurs in neonates as a consequence of transplacental passage of maternal alloantibodies directed against fetal platelet antigens. C165258 Cellosaurus Disease Terminology C129980 Neonatal Hemochromatosis Neonatal Hemochromatosis "An idiopathic form of neonatal hemochromatosis, characterized by liver failure and iron accumulation in the tissues." C165258 Cellosaurus Disease Terminology C99236 Neonatal Lupus Erythematosus Neonatal Lupus Erythematosus "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." C165258 Cellosaurus Disease Terminology C121565 Neonatal Progeroid Syndrome Neonatal Progeroid Syndrome Wiedemann-Rautenstrauch Syndrome "A rare autosomal recessive disorder associated with abnormalities in bone maturation, and lipids and hormone metabolism and characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood. Its cause is unknown." C165258 Cellosaurus Disease Terminology C131853 Neonatal Severe Primary Hyperparathyroidism Neonatal Severe Primary Hyperparathyroidism "An autosomal recessive form of Kenny-Caffey syndrome that is secondary to mutation(s) in the TCBE gene that encodes tubulin-specific chaperone E; it is characterized by the following: hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space, cortical thickening and medullary stenosis of long bones, and small hands and feet." C165258 Cellosaurus Disease Terminology C3262 Neoplasm Neoplasm Neoplasia || Neoplastic Growth "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." C165258 Cellosaurus Disease Terminology C74998 Nephronophthisis 1 Nephronophthisis 1 Familial Juvenile Nephronophthisis || Juvenile Nephronophthisis "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." C165258 Cellosaurus Disease Terminology C129932 Nephropathic Cystinosis Nephropathic Cystinosis "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction." C165258 Cellosaurus Disease Terminology C34845 Nephrotic Syndrome Nephrotic Syndrome "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." C165258 Cellosaurus Disease Terminology C122795 Nephrotic Syndrome - NPHS1 Associated Nephrotic Syndrome - NPHS1 Associated "Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life." C165258 Cellosaurus Disease Terminology C123095 Nephrotic Syndrome - NPHS2 Associated Nephrotic Syndrome - NPHS2 Associated Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene. C165258 Cellosaurus Disease Terminology C123106 Nephrotic Syndrome - WT1 Associated Nephrotic Syndrome - WT1 Associated Nephrotic syndrome attributed to mutation(s) in the WT1 gene. C165258 Cellosaurus Disease Terminology C26835 Nervous System Disorder Nervous System Disorder Neurologic Disorder "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." C165258 Cellosaurus Disease Terminology C84922 Netherton Syndrome Netherton Syndrome A rare autosomal recessive form of ichthyosis caused by mutations in the SPINK5 gene. Patients have spiky and fragile hair. C165258 Cellosaurus Disease Terminology C125596 Neuraminidase Deficiency Neuraminidase Deficiency Mucolipidosis I || Sialidosis Type II An autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid associated with neuraminidase deficiency. C165258 Cellosaurus Disease Terminology C3270 Neuroblastoma Neuroblastoma Neuroblastoma (Schwannian Stroma-Poor) "A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation." C165258 Cellosaurus Disease Terminology C175707 Neurodegeneration With Brain Iron Accumulation 4 Neurodegeneration with Brain Iron Accumulation 4 "A genetic condition associated with mutation(s) in the C19orf12 gene, encoding protein C19orf12. It is characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms." C165258 Cellosaurus Disease Terminology C175210 Neurodegeneration with Brain Iron Accumulation 5 Neurodegeneration with Brain Iron Accumulation 5 Beta-propeller Protein-associated Neurodegeneration "An X-linked dominant condition caused by mutation(s) in the WDR45 gene, encoding WD repeat domain phosphoinositide-interacting protein 4. it is characterized by global developmental delay in early childhood, and subsequent dystonia and dementia in young adulthood." C165258 Cellosaurus Disease Terminology C186789 "Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies" "Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies" Intellectual Disability-Strabismus Syndrome "An autosomal recessive disorder caused by mutation(s) in the ADAT3 gene, encoding probable inactive tRNA-specific adenosine deaminase-like protein 3. It is characterized by a neurodevelopmental disorder with brain abnormalities, poor growth, and abnormal facies." C165258 Cellosaurus Disease Terminology C176897 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects "Mental Retardation, Autosomal Dominant 19" "An autosomal dominant condition caused by mutation(s) in the CTNNB1 gene, encoding catenin beta-1. It is characterized by severe intellectual disability, progressive spastic diplegia, visual impairment, and dysmorphic craniofacial features." C165258 Cellosaurus Disease Terminology C22150 Neuroendocrine Adenoma of the Mouse Intestinal Tract Neuroendocrine Adenoma of the Mouse Intestinal Tract C165258 Cellosaurus Disease Terminology C3272 Neurofibroma Neurofibroma Neurofibroma (WHO Grade I) An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. C165258 Cellosaurus Disease Terminology C3273 Neurofibromatosis Type 1 Neurofibromatosis Type 1 Neurofibromatosis 1 || Peripheral Neurofibromatosis || Von Recklinghausen Disease "The most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17." C165258 Cellosaurus Disease Terminology C3274 Neurofibromatosis Type 2 Neurofibromatosis Type 2 Acoustic Neurofibromatosis || Bilateral Acoustic Neurofibromatosis || Central Neurofibromatosis || Neurofibromatosis 2 "An autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene. It is characterized by the development of peripheral and central nervous system tumors including acoustic schwannomas, neurofibromas, gliomas, and meningiomas." C165258 Cellosaurus Disease Terminology C84934 Neuromyelitis Optica Neuromyelitis Optica Devic Syndrome "An autoimmune inflammatory syndrome characterized by optic neuritis and myelitis. Signs and symptoms include loss of vision, weakness and paralysis of the extremities, and loss of sensation." C165258 Cellosaurus Disease Terminology C85861 Neuronal Ceroid Lipofuscinosis Type 1 Neuronal Ceroid Lipofuscinosis Type 1 Infantile Neuronal Ceroid Lipofuscinosis || Santavuori Disease "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." C165258 Cellosaurus Disease Terminology C188214 Neuronal Ceroid Lipofuscinosis Type 11 Neuronal Ceroid Lipofuscinosis Type 11 "An autosomal recessive condition caused by mutation(s) in the GRN gene, encoding progranulin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." C165258 Cellosaurus Disease Terminology C85864 Neuronal Ceroid Lipofuscinosis Type 2 Neuronal Ceroid Lipofuscinosis Type 2 Late Infantile Neuronal Ceroid Lipofuscinosis "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." C165258 Cellosaurus Disease Terminology C61258 Neuronal Ceroid Lipofuscinosis Type 3 Neuronal Ceroid Lipofuscinosis Type 3 Batten Disease "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." C165258 Cellosaurus Disease Terminology C128116 Neuronal Ceroid Lipofuscinosis Type 4B Neuronal Ceroid Lipofuscinosis Type 4B "Autosomal Dominant Kufs Disease || Neuronal Ceroid Lipofuscinosis, Parry Type" "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." C165258 Cellosaurus Disease Terminology C122655 Neuronal Intranuclear Inclusion Disease Neuronal Intranuclear Inclusion Disease "A rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive abnormalities." C165258 Cellosaurus Disease Terminology C4731 Neuropathy Neuropathy "A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." C165258 Cellosaurus Disease Terminology C170433 "Neuropathy, Hereditary Sensory and Autonomic, Type I" "Neuropathy, Hereditary Sensory and Autonomic, Type I" Hereditary Sensory and Autonomic Neuropathy Type 1 "An autosomal dominant condition caused by mutation(s) in the SPTLC1 gene, encoding serine palmitoyltransferase long chain base subunit 1. It is characterized by distal sensory impairment with variable autonomic and motor involvement." C165258 Cellosaurus Disease Terminology C118633 "Neuropathy, Hereditary Sensory and Autonomic, Type IV" "Neuropathy, Hereditary Sensory and Autonomic, Type IV" CIPA || Congenital Insensitivity to Pain with Anhidrosis || Hereditary Sensory and Autonomic Neuropathy Type IV "A rare, autosomal recessive inherited disorder caused by mutations in the NTRK1 gene. It is characterized by inability to feel pain and temperature that leads to repeated unintentional self-injuries, and decreased or absent sweating that leads to hyperpyrexia and febrile seizures." C165258 Cellosaurus Disease Terminology C156360 "Neuropathy, Hereditary Sensory and Autonomic, Type V" "Neuropathy, Hereditary Sensory and Autonomic, Type V" Hereditary Sensory and Autonomic Neuropathy Type V "An autosomal recessive condition caused by mutation(S) in the NGF gene, encoding beta-nerve growth factor. It is characterized by loss of pain sensation, particularly in the extremities." C165258 Cellosaurus Disease Terminology C125388 "Neuropathy, Hereditary Sensory and Autonomic, Type VII" "Neuropathy, Hereditary Sensory and Autonomic, Type VII" Hereditary Sensory and Autonomic Neuropathy Type VII A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries. C165258 Cellosaurus Disease Terminology C176898 "Neuropathy, Recurrent, with Pressure Palsies" "Neuropathy, Recurrent, with Pressure Palsies" Hereditary Neuropathy with Liability to Pressure Palsies "An autosomal dominant condition caused by mutation(s) in the PMP22 gene, encoding peripheral myelin protein 22. Neuropathy is precipitated by mechanical compression on a nerve, typically with onset in the first and second decades." C165258 Cellosaurus Disease Terminology C80520 Neutropenia Neutropenia Neutrophil Count Decreased A decrease in the number of neutrophils in the peripheral blood. C165258 Cellosaurus Disease Terminology C2892 Nevoid Basal Cell Carcinoma Syndrome Nevoid Basal Cell Carcinoma Syndrome Basal Cell Nevus Syndrome || Gorlin Syndrome || Gorlin-Goltz Syndrome || Multiple Basal Cell Carcinomas "An autosomal dominant genetic syndrome caused by abnormalities in the PTCH and SUFU gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas." C165258 Cellosaurus Disease Terminology C7582 Nevus of Ito Nevus of Ito Hypomelanosis of Ito || Ito's Nevus "A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous." C165258 Cellosaurus Disease Terminology C61269 Niemann-Pick Disease Niemann-Pick Disease "An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia." C165258 Cellosaurus Disease Terminology C126561 "Niemann-Pick Disease, Type A" "Niemann-Pick Disease, Type A" "An autosomal recessive inherited lysosomal storage disease caused by mutations in the SMPD1 gene. It manifests with hepatosplenomegaly, failure to thrive, psychomotor regression, and interstitial lung disease." C165258 Cellosaurus Disease Terminology C126866 "Niemann-Pick Disease, Type B" "Niemann-Pick Disease, Type B" Type B Niemann-Pick Disease "An autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, encoding sphingomyelin phosphodiesterase. The condition is characterized by hepatosplenomegaly and interstitial lung disease, but with little neurological involvement. It is part of a continuum of disease resulting from decrease activity of sphingomyelin phosphodiesterase, with Type B being the milder form." C165258 Cellosaurus Disease Terminology C126864 "Niemann-Pick Disease, Type C1" "Niemann-Pick Disease, Type C1" Type C1 Niemann-Pick Disease "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein." C165258 Cellosaurus Disease Terminology C126865 "Niemann-Pick Disease, Type C2" "Niemann-Pick Disease, Type C2" Type C2 Niemann-Pick Disease "Type C Niemann-Pick disease associated with a mutation in the gene NPC2, encoding Niemann-Pick C2 protein." C165258 Cellosaurus Disease Terminology C4692 Nijmegen Breakage Syndrome Nijmegen Breakage Syndrome "A disorder, wherein unstable chromosomes have a tendency to break and become rearranged, characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots, and immunodeficiency. The syndrome is named after the University of Nijmegen in the Netherlands. (JABL99)" C165258 Cellosaurus Disease Terminology C153178 Nijmegen Breakage Syndrome-Like Disorder Nijmegen Breakage Syndrome-Like Disorder RAD50 Deficiency "A condition caused by mutation(s) in the RAD50 gene, encoding DNA repair protein RAD50. It is characterized by microcephaly and chromosomal instability." C165258 Cellosaurus Disease Terminology C7258 Nodular Lymphocyte Predominant Hodgkin Lymphoma Nodular Lymphocyte Predominant Hodgkin Lymphoma Nodular Lymphocyte Predominant Hodgkin's Lymphoma "A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)" C165258 Cellosaurus Disease Terminology C121721 Non-Functioning Pituitary Gland Macroadenoma Non-Functioning Pituitary Neuroendocrine Tumor/Macroadenoma Non-Functioning PitNET/Macroadenoma || Non-Functioning Pituitary Gland Macroadenoma || Nonfunctional Pituitary Gland Macroadenoma || Nonfunctioning Pituitary Gland Macroadenoma A pituitary neuroendocrine tumor/macroadenoma not associated with a hormonal syndrome. C165258 Cellosaurus Disease Terminology C39991 Non-Gestational Ovarian Choriocarcinoma Non-Gestational Ovarian Choriocarcinoma "A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma." C165258 Cellosaurus Disease Terminology C3211 Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma Non-Hodgkin's Lymphoma || Non-Hodgkin's Lymphoma (NHL) "Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage." C165258 Cellosaurus Disease Terminology C27604 Non-Neoplastic Eye Disorder Non-Neoplastic Eye Disorder Non-Neoplastic Eye Disease A non-neoplastic disorder that affects the eye. C165258 Cellosaurus Disease Terminology C176900 Nonaka Myopathy Nonaka Myopathy GNE Myopathy "An autosomal recessive condition caused by mutation(s) in the GNE gene, encoding bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. It is characterized by distal muscle weakness and atrophy, especially the tibialis anterior, and sparing of the quadriceps." C165258 Cellosaurus Disease Terminology C84444 Nonalcoholic Fatty Liver Disease Nonalcoholic Fatty Liver Disease NAFLD - Nonalcoholic Fatty Liver Disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. C165258 Cellosaurus Disease Terminology C34854 Noonan Syndrome Noonan Syndrome "A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function." C165258 Cellosaurus Disease Terminology C118634 Norrie Syndrome Norrie Syndrome "A rare, X-linked recessive inherited syndrome caused by mutations in the NDP gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays." C165258 Cellosaurus Disease Terminology C88411 Obsessive Compulsive Disorder Obsessive Compulsive Disorder "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." C165258 Cellosaurus Disease Terminology C118785 Ocular Albinism Type 1 Ocular Albinism Type 1 Nettleship-Falls Syndrome || OA1 "An X-linked inherited disorder caused by mutations in the GPR143 gene. It is characterized by reduced visual acuity and reduced stereoscopic vision. Other abnormalities include nystagmus, strabismus, and photophobia." C165258 Cellosaurus Disease Terminology C84940 Oculocerebrorenal Syndrome Oculocerebrorenal Syndrome "An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction." C165258 Cellosaurus Disease Terminology C168731 Oculocutaneous Albinism Type 1A Oculocutaneous Albinism Type 1A "Oculocutaneous albinism inherited in an autosomal recessive pattern, and caused by mutation(s) in the TYR gene, encoding tyrosinase." C165258 Cellosaurus Disease Terminology C84942 Oculopharyngeal Muscular Dystrophy Oculopharyngeal Muscular Dystrophy "An autosomal dominant disorder caused by mutations in the PABPN1 gene, encoding polyadenylate-binding protein 2. The condition is characterized by progressive ptosis, dysphagia and weakness of the muscles of the face, neck, and extraocular muscles." C165258 Cellosaurus Disease Terminology C190873 Oculopharyngodistal Myopathy 2 Oculopharyngodistal Myopathy 2 "An autosomal dominant condition caused by mutation(s) in the GIPC1 gene, encoding PDZ domain-containing protein GIPC1. It is characterized by distal muscle weakness and ophthalmoplegia, with a slowly progressive course." C165258 Cellosaurus Disease Terminology C188215 Ogden Syndrome Ogden Syndrome "An X-linked condition caused by mutation(s) in the NAA10 gene, encoding N-alpha-acetyltransferase 10. It is characterized by characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic facial features, and hypotonia." C165258 Cellosaurus Disease Terminology C3789 Olfactory Neuroblastoma Olfactory Neuroblastoma Esthesioneuroblastoma || Esthesioneuroepithelioma || Olfactory Esthesioneuroblastoma || Olfactory Neuroepithelioma "A rare neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity or paranasal sinuses. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor." C165258 Cellosaurus Disease Terminology C4050 Oligoastrocytoma Oligoastrocytoma Mixed Astrocytic-Oligodendroglial Neoplasm || Mixed Astrocytic-Oligodendroglial Tumor || Mixed Astrocytoma-Oligodendroglioma || Mixed Oligo-Astrocytoma || WHO Grade 2 Mixed Glioma || WHO Grade II Mixed Glioma A WHO grade 2 tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO) C165258 Cellosaurus Disease Terminology C3288 Oligodendroglioma Oligodendroglioma WHO Grade 2 Oligodendroglial Neoplasm || WHO Grade 2 Oligodendroglial Tumor || WHO Grade II Oligodendroglial Neoplasm || WHO Grade II Oligodendroglial Tumor || Well Differentiated Oligodendroglial Tumor || Well Differentiated Oligodendroglioma "A well-differentiated (WHO grade 2), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)" C165258 Cellosaurus Disease Terminology C61240 Omenn Syndrome Omenn Syndrome "An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea." C165258 Cellosaurus Disease Terminology C188145 Oocyte Maturation Defect-4 Oocyte Maturation Defect-4 "An autosomal recessive phenotypically variable condition caused by mutation(s) in the PATL2 gene, encoding protein PAT1 homolog 2. It is characterized by oocyte maturation defects." C165258 Cellosaurus Disease Terminology C27769 Opisthorchis Viverrini-Related Cholangiocarcinoma Opisthorchis Viverrini-Related Cholangiocarcinoma Liver Fluke-Related Cholangiocarcinoma A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini. C165258 Cellosaurus Disease Terminology C125487 Opitz G/BBB Syndrome Opitz G/BBB Syndrome Opitz G Syndrome "An X-linked syndrome caused by mutations in the MID1 gene or autosomal dominant syndrome caused by changes in chromosome 22. It is characterized by ocular hypertelorism, and defects of the larynx, trachea, or esophagus. Most males have hypospadias, cryptorchidism, underdeveloped scrotum, or a scrotum divided into two lobes. Mild intellectual disability and developmental delays occur in approximately half of the affected individuals." C165258 Cellosaurus Disease Terminology C169000 Optic Atrophy 1 Optic Atrophy 1 Kjer-type Optic Atrophy "An autosomal dominant form of hereditary optic atrophy caused by mutation(s) in the OPA1 gene, encoding dynamin-like 120 kDa protein, mitochondrial." C165258 Cellosaurus Disease Terminology C36262 Oral Cavity Leukoplakia Oral Cavity Leukoplakia Leukoplakia of Mouth || Leukoplakia of the Mouth || Mouth Leukoplakia "A white patch or plaque on the oral cavity mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." C165258 Cellosaurus Disease Terminology C5915 Oral Cavity Mucosal Melanoma Oral Cavity Mucosal Melanoma Mouth Mucosal Melanoma || Mucosal Melanoma of Mouth || Mucosal Melanoma of Oral Cavity || Mucosal Melanoma of the Mouth || Mucosal Melanoma of the Oral Cavity A rare melanoma that arises from the oral cavity. It is associated with a poor prognosis. C165258 Cellosaurus Disease Terminology C6242 Oral Cavity Pleomorphic Adenoma Oral Cavity Pleomorphic Adenoma Benign Mixed Salivary Tumor of Oral Cavity || Benign Mixed Salivary Tumor of the Oral Cavity || Pleomorphic Adenoma of Oral Cavity || Pleomorphic Adenoma of the Oral Cavity "A benign, slow-growing and painless neoplasm that arises from the salivary glands in the oral cavity. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation." C165258 Cellosaurus Disease Terminology C4833 Oral Cavity Squamous Cell Carcinoma Oral Cavity Squamous Cell Carcinoma Mouth SCC || Mouth Squamous Cell Carcinoma || Oral Cavity SCC || SCC of Mouth || SCC of Oral Cavity || SCC of the Mouth || SCC of the Oral Cavity || Squamous Cell Carcinoma of Mouth || Squamous Cell Carcinoma of Oral Cavity || Squamous Cell Carcinoma of the Mouth || Squamous Cell Carcinoma of the Oral Cavity "A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status." C165258 Cellosaurus Disease Terminology C129863 Oral Epithelial Dysplasia Oral Epithelial Dysplasia Oral Dysplasia A morphologic finding of dysplastic epithelial cells in the oral cavity. C165258 Cellosaurus Disease Terminology C3187 Oral Leukoplakia Oral Leukoplakia Leukokeratosis of Oral Mucosa || Leukoplakia of Oral Mucosa || Leukoplakia of the Oral Mucosa || Oral Keratoses || Oral Keratosis "A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." C165258 Cellosaurus Disease Terminology C4678 Organoid Nevus Organoid Nevus Linear Sebaceous Nevus || Nevus Sebaceous of Jadassohn A hamartomatous skin lesion containing sebaceous glands. It is usually located in the scalp. C165258 Cellosaurus Disease Terminology C84957 Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carbamoyltransferase Deficiency Disease Ornithine Transcarbamylase Deficiency "An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma." C165258 Cellosaurus Disease Terminology C124838 Orofacial Cleft 1 Orofacial Cleft 1 Cleft lip with or without cleft palate mapped to chromosome 6p24. C165258 Cellosaurus Disease Terminology C124841 Orofaciodigital Syndrome Type 6 Orofaciodigital Syndrome Type 6 Varadi-Papp Syndrome "A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar dysgenesis." C165258 Cellosaurus Disease Terminology C8181 Oropharyngeal Squamous Cell Carcinoma Oropharyngeal Squamous Cell Carcinoma Epidermoid Carcinoma of Oropharynx || Epidermoid Carcinoma of the Oropharynx || Oropharyngeal Epidermoid Carcinoma || Squamous Cell Carcinoma of Oropharynx || Squamous Cell Carcinoma of the Oropharynx "A squamous cell carcinoma arising from the oropharynx. It predominantly affects adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with locally advanced disease. Signs and symptoms include mucosal ulceration, pain, bleeding, weight loss, neck swelling, and difficulty speaking, chewing, and swallowing. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status." C165258 Cellosaurus Disease Terminology C3293 Osteoarthritis Osteoarthritis "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." C165258 Cellosaurus Disease Terminology C3294 Osteoblastoma Osteoblastoma Giant Osteoid Osteoma || Ossifying Giant Cell Tumor A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent. C165258 Cellosaurus Disease Terminology C84978 Osteochondrodysplasia Osteochondrodysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. C165258 Cellosaurus Disease Terminology C22964 Osteochondroma of the Mouse Skeletal System Osteochondroma of the Mouse Skeletal System C165258 Cellosaurus Disease Terminology C26837 Osteogenesis Imperfecta Osteogenesis Imperfecta A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones. C165258 Cellosaurus Disease Terminology C99003 Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type I "The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal." C165258 Cellosaurus Disease Terminology C99001 Osteogenesis Imperfecta Type II Osteogenesis Imperfecta Type II "A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities." C165258 Cellosaurus Disease Terminology C99002 Osteogenesis Imperfecta Type III Osteogenesis Imperfecta Type III "A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face." C165258 Cellosaurus Disease Terminology C98576 Osteogenesis Imperfecta Type IV Osteogenesis Imperfecta Type IV A type of osteogenesis imperfecta that is characterized by fractures and hearing loss. It is more severe than type I and less severe than types II and III. C165258 Cellosaurus Disease Terminology C164153 Osteogenesis Imperfecta Type XIX Osteogenesis Imperfecta Type XIX "An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia." C165258 Cellosaurus Disease Terminology C3297 Osteoid Osteoma Osteoid Osteoma "A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare." C165258 Cellosaurus Disease Terminology C118438 Osteopetrosis with Renal Tubular Acidosis Osteopetrosis with Renal Tubular Acidosis "Autosomal Recessive Osteopetrosis 3 || Autosomal Recessive Osteopetrosis, Type 3 || Carbonic Anhydrase II Deficiency || Guibaud-Vainsel Syndrome || Marble Brain Disease || OPTB3" "A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, mental retardation, and fractures." C165258 Cellosaurus Disease Terminology C9145 Osteosarcoma Osteosarcoma Osteogenic Sarcoma "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs." C165258 Cellosaurus Disease Terminology C118845 Otopalatodigital Syndrome Type 1 Otopalatodigital Syndrome Type 1 "A rare, X-linked dominant inherited syndrome caused by mutations in the FLNA gene. It is characterized by hearing loss caused by malformations in the ossicles, cleft palate, wide-set eyes, prominent brow ridges, small and flat nose, and skeletal abnormalities in the fingers and toes. Males usually experience more severe symptoms than females." C165258 Cellosaurus Disease Terminology C185242 Otosclerosis Otosclerosis A condition characterized by bony overgrowth involving the footplate of the stapes. C165258 Cellosaurus Disease Terminology C7700 Ovarian Adenocarcinoma Ovarian Adenocarcinoma Adenocarcinoma of Ovary || Adenocarcinoma of the Ovary "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." C165258 Cellosaurus Disease Terminology C4908 Ovarian Carcinoma Ovarian Carcinoma Carcinoma of Ovary || Carcinoma of the Ovary "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms." C165258 Cellosaurus Disease Terminology C9192 Ovarian Carcinosarcoma Ovarian Carcinosarcoma Carcinosarcoma of Ovary || Carcinosarcoma of the Ovary || Malignant Mixed Mesodermal Mullerian Neoplasm of Ovary || Malignant Mixed Mesodermal Mullerian Neoplasm of the Ovary || Malignant Mixed Mesodermal Mullerian Tumor of Ovary || Malignant Mixed Mesodermal Mullerian Tumor of the Ovary || Malignant Mixed Mesodermal Müllerian Neoplasm of Ovary || Malignant Mixed Mesodermal Müllerian Neoplasm of the Ovary || Malignant Mixed Mesodermal Müllerian Tumor of Ovary || Malignant Mixed Mesodermal Müllerian Tumor of the Ovary || Ovarian Malignant Mesodermal (Mullerian) Mixed Tumor || Ovarian Malignant Mesodermal (Müllerian) Mixed Tumor || Ovarian Malignant Mixed Mesodermal (Mullerian) Tumor || Ovarian Malignant Mixed Mesodermal (Müllerian) Tumor || Ovarian Malignant Mixed Mesodermal Mullerian Neoplasm || Ovarian Malignant Mixed Mesodermal Mullerian Tumor || Ovarian Malignant Mixed Mesodermal Müllerian Neoplasm || Ovarian Malignant Mixed Mesodermal Müllerian Tumor || Ovarian Malignant Mixed Mullerian Neoplasm || Ovarian Malignant Mixed Mullerian Tumor || Ovarian Malignant Mixed Müllerian Neoplasm || Ovarian Malignant Mixed Müllerian Tumor "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." C165258 Cellosaurus Disease Terminology C40078 Ovarian Clear Cell Adenocarcinoma Ovarian Clear Cell Adenocarcinoma "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia." C165258 Cellosaurus Disease Terminology C5228 Ovarian Cystadenocarcinoma Ovarian Cystadenocarcinoma Cystadenocarcinoma of Ovary || Cystadenocarcinoma of the Ovary "An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." C165258 Cellosaurus Disease Terminology C3856 Ovarian Dermoid Cyst Ovarian Dermoid Cyst Dermoid Cyst of Ovary || Dermoid Cyst of the Ovary A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral. C165258 Cellosaurus Disease Terminology C177774 Ovarian Dermoid Cyst with Somatic-Type Malignancy Ovarian Dermoid Cyst with Somatic-Type Malignancy Ovarian Teratoma with Malignant Transformation "An ovarian dermoid cyst associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma)." C165258 Cellosaurus Disease Terminology C8106 Ovarian Dysgerminoma Ovarian Dysgerminoma Dysgerminoma of Ovary || Dysgerminoma of the Ovary || Germ Cell Dysgerminoma of Ovary || Germ Cell Dysgerminoma of the Ovary || Ovarian Germ Cell Dysgerminoma "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." C165258 Cellosaurus Disease Terminology C7979 Ovarian Endometrioid Adenocarcinoma Ovarian Endometrioid Adenocarcinoma Endometrioid Adenocarcinoma of Ovary || Endometrioid Adenocarcinoma of the Ovary || Endometrioid Cancer of Ovary || Endometrioid Cancer of the Ovary || Endometrioid Carcinoma of Ovary || Endometrioid Carcinoma of the Ovary || Ovarian Endometrioid Adenocarcinoma NOS || Ovarian Endometrioid Adenocarcinoma Not Otherwise Specified || Ovarian Endometrioid Cancer || Ovarian Endometrioid Carcinoma "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." C165258 Cellosaurus Disease Terminology C4069 Ovarian Endometriotic Cyst Ovarian Endometriotic Cyst Endometrioma of Ovary || Endometrioma of the Ovary || Endometriotic Cyst of Ovary || Endometriotic Cyst of the Ovary || Ovarian Endometrioma A cystic form of endometriosis affecting the ovary. It may or may not be associated with endometriosis in other areas in the pelvis. C165258 Cellosaurus Disease Terminology C5233 Ovarian Fibrosarcoma Ovarian Fibrosarcoma Fibrosarcoma of Ovary || Fibrosarcoma of the Ovary A usually aggressive malignant neoplasm arising from the ovary. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. C165258 Cellosaurus Disease Terminology C6261 Ovarian Granulosa Cell Tumor Ovarian Granulosa Cell Tumor Granulosa Cell Neoplasm of Ovary || Granulosa Cell Neoplasm of the Ovary || Granulosa Cell Tumor of Ovary || Granulosa Cell Tumor of the Ovary || Ovarian Granulosa Cell Neoplasm "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." C165258 Cellosaurus Disease Terminology C5234 Ovarian Leiomyosarcoma Ovarian Leiomyosarcoma Leiomyosarcoma of Ovary || Leiomyosarcoma of the Ovary "An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells." C165258 Cellosaurus Disease Terminology C8114 Ovarian Mixed Germ Cell Tumor Ovarian Mixed Germ Cell Tumor Mixed Germ Cell Neoplasm of Ovary || Mixed Germ Cell Neoplasm of the Ovary || Mixed Germ Cell Tumor of Ovary || Mixed Germ Cell Tumor of the Ovary || Ovarian Mixed Germ Cell Neoplasm An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell tumor components. The most common combination of germ cell tumors is dysgerminoma and yolk sac tumor. C165258 Cellosaurus Disease Terminology C5243 Ovarian Mucinous Adenocarcinoma Ovarian Mucinous Adenocarcinoma Mucinous Adenocarcinoma of Ovary || Mucinous Adenocarcinoma of the Ovary || Mucinous Carcinoma of Ovary || Mucinous Carcinoma of the Ovary || Ovarian Mucinous Carcinoma "An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations." C165258 Cellosaurus Disease Terminology C4026 Ovarian Mucinous Cystadenocarcinoma Ovarian Mucinous Cystadenocarcinoma Mucinous Cystadenocarcinoma of Ovary || Mucinous Cystadenocarcinoma of the Ovary An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis. C165258 Cellosaurus Disease Terminology C4512 Ovarian Mucinous Cystadenoma Ovarian Mucinous Cystadenoma Benign Mucinous Cystadenoma of Ovary || Benign Mucinous Cystadenoma of the Ovary || Benign Ovarian Mucinous Cystadenoma || Mucinous Cystadenoma of Ovary || Mucinous Cystadenoma of the Ovary A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells. C165258 Cellosaurus Disease Terminology C7278 Ovarian Papillary Cystadenoma Ovarian Papillary Cystadenoma A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts. C165258 Cellosaurus Disease Terminology C7550 Ovarian Serous Adenocarcinoma Ovarian Serous Adenocarcinoma Ovarian Serous Carcinoma || Serous Adenocarcinoma of Ovary || Serous Adenocarcinoma of the Ovary || Serous Carcinoma of Ovary || Serous Carcinoma of the Ovary "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." C165258 Cellosaurus Disease Terminology C7978 Ovarian Serous Cystadenocarcinoma Ovarian Serous Cystadenocarcinoma "A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features." C165258 Cellosaurus Disease Terminology C40032 Ovarian Serous Cystadenofibroma Ovarian Serous Cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. C165258 Cellosaurus Disease Terminology C4511 Ovarian Serous Cystadenoma Ovarian Serous Cystadenoma Benign Ovarian Serous Cystadenoma || Benign Serous Cystadenoma of Ovary || Benign Serous Cystadenoma of the Ovary || Serous Cystadenoma of Ovary || Serous Cystadenoma of the Ovary "A benign, usually bilateral neoplasm of the ovary characterized by the presence of cystic structures that contain watery fluid and are lined by serous epithelial cells. Signs and symptoms include abdominal enlargement, pain, and vaginal bleeding." C165258 Cellosaurus Disease Terminology C6256 Ovarian Serous Surface Papillary Adenocarcinoma Ovarian Serous Surface Papillary Adenocarcinoma Serous Surface Papillary Carcinoma of Ovary || Serous Surface Papillary Carcinoma of the Ovary A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern. C165258 Cellosaurus Disease Terminology C27390 Ovarian Small Cell Carcinoma Ovarian Small Cell Carcinoma "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." C165258 Cellosaurus Disease Terminology C40439 "Ovarian Small Cell Carcinoma, Hypercalcemic Type" "Ovarian Small Cell Carcinoma, Hypercalcemic Type" "An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers." C165258 Cellosaurus Disease Terminology C40093 Ovarian Squamous Cell Carcinoma Ovarian Squamous Cell Carcinoma A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor. C165258 Cellosaurus Disease Terminology C8110 Ovarian Teratoma Ovarian Teratoma Germ Cell Teratoma of Ovary || Germ Cell Teratoma of the Ovary || Ovarian Germ Cell Teratoma || Teratoma of Ovary || Teratoma of the Ovary "A benign, immature, or malignant teratoma arising from the ovary." C165258 Cellosaurus Disease Terminology C4509 Ovarian Undifferentiated Carcinoma Ovarian Undifferentiated Carcinoma Anaplastic Carcinoma of Ovary || Anaplastic Carcinoma of the Ovary || Anaplastic Ovarian Carcinoma || Undifferentiated Carcinoma of Ovary || Undifferentiated Carcinoma of the Ovary || Undifferentiated Ovarian Carcinoma "An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." C165258 Cellosaurus Disease Terminology C8107 Ovarian Yolk Sac Tumor Ovarian Yolk Sac Tumor Endodermal Sinus Neoplasm of Ovary || Endodermal Sinus Neoplasm of the Ovary || Endodermal Sinus Tumor of Ovary || Endodermal Sinus Tumor of the Ovary || Germ Cell Endodermal Sinus Neoplasm of Ovary || Germ Cell Endodermal Sinus Neoplasm of the Ovary || Germ Cell Endodermal Sinus Tumor of Ovary || Germ Cell Endodermal Sinus Tumor of the Ovary || Ovarian Endodermal Sinus Neoplasm || Ovarian Endodermal Sinus Tumor || Ovarian Germ Cell Endodermal Sinus Neoplasm || Ovarian Germ Cell Endodermal Sinus Tumor || Ovarian Yolk Sac Neoplasm || Yolk Sac Neoplasm of Ovary || Yolk Sac Neoplasm of the Ovary || Yolk Sac Tumor of Ovary || Yolk Sac Tumor of the Ovary "A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." C165258 Cellosaurus Disease Terminology C134781 Ovine Sinus Tumor Ovine Sinus Tumor A neoplasm that occurs in the sinus of a sheep. C165258 Cellosaurus Disease Terminology C129746 PDX1-Associated Monogenic Diabetes PDX1-Associated Monogenic Diabetes "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes." C165258 Cellosaurus Disease Terminology C176703 PIK3R1-Associated Immunodeficiency PIK3R1-Associated Immunodeficiency Activated PI3K-Delta Syndrome 2 || Immunodeficiency 36 "An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma." C165258 Cellosaurus Disease Terminology C157267 POLG-Related Spectrum Disorders POLG-Related Spectrum Disorders "A group of disorders with overlapping phenotypes caused by mutation(s) of the POLG gene, encoding DNA polymerase subunit gamma-1. Phenotypic variations include Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), autosomal recessive progressive external ophthalmoplegia (arPEO), and autosomal dominant progressive external ophthalmoplegia (adPEO)." C165258 Cellosaurus Disease Terminology C7073 Paget Disease Paget Disease Paget Cell Neoplasm || Paget's Cell Neoplasm || Paget's Disease "A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum." C165258 Cellosaurus Disease Terminology C75458 Pallister-Killian Syndrome Pallister-Killian Syndrome "A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin." C165258 Cellosaurus Disease Terminology C7977 Pancreatic Acinar Cell Carcinoma Pancreatic Acinar Cell Carcinoma Acinar Cell Adenocarcinoma of Pancreas || Acinar Cell Adenocarcinoma of the Pancreas || Acinar Cell Carcinoma of Pancreas || Acinar Cell Carcinoma of the Pancreas || Pancreas Acinar Cell Adenocarcinoma || Pancreatic Acinar Cell Adenocarcinoma "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." C165258 Cellosaurus Disease Terminology C8294 Pancreatic Adenocarcinoma Pancreatic Adenocarcinoma Adenocarcinoma of Pancreas || Adenocarcinoma of the Pancreas || Pancreas Adenocarcinoma An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma. C165258 Cellosaurus Disease Terminology C5721 Pancreatic Adenosquamous Carcinoma Pancreatic Adenosquamous Carcinoma Adenosquamous Carcinoma of Pancreas || Adenosquamous Carcinoma of the Pancreas || Pancreatic Adenoacanthoma || Pancreatic Mixed Squamous and Adenocarcinoma || Pancreatic Mucoepidermoid Carcinoma A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma. C165258 Cellosaurus Disease Terminology C3850 Pancreatic Carcinoma Pancreatic Carcinoma Cancer of Pancreas || Cancer of the Pancreas || Carcinoma of Pancreas || Carcinoma of the Pancreas || Exocrine Pancreas Carcinoma || Pancreas Cancer || Pancreas Carcinoma || Pancreatic Cancer A carcinoma arising from the exocrine pancreas. The overwhelming majority of pancreatic carcinomas are adenocarcinomas. C165258 Cellosaurus Disease Terminology C9120 Pancreatic Ductal Adenocarcinoma Pancreatic Ductal Adenocarcinoma "Ductal Adenocarcinoma of Pancreas || Ductal Adenocarcinoma of the Pancreas || Pancreas Ductal Adenocarcinoma || Pancreatic Infiltrating Duct Carcinoma, NOS || Pancreatic Infiltrating Duct Carcinoma, Not Otherwise Specified || Pancreatic Tubular Adenocarcinoma" "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." C165258 Cellosaurus Disease Terminology C95598 Pancreatic Insulinoma Pancreatic Insulinoma Insulinoma An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. C165258 Cellosaurus Disease Terminology C38342 Pancreatic Intraductal Papillary-Mucinous Neoplasm Pancreatic Intraductal Papillary-Mucinous Neoplasm Pancreatic IPMN || Pancreatic Intraductal Papillary-Mucinous Tumor "A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus." C165258 Cellosaurus Disease Terminology C95506 Pancreatic Intraductal Tubulopapillary Neoplasm Pancreatic Intraductal Tubulopapillary Neoplasm Pancreatic ITPN || Pancreatic Intraductal Tubular Neoplasm "An epithelial neoplasm that arises from the exocrine pancreas characterized by the formation of tubular structures, high grade dysplasia, and ductal differentiation. Grossly, it is characterized by the presence of intraductal nodular masses. Morphologically, there are nodules of tubular glands and occasional papillary structures growing in dilated ducts. There is no significant mucin production. Signs and symptoms include epigastric pain, weight loss, vomiting, steatorrhea, and diabetes mellitus." C165258 Cellosaurus Disease Terminology C129030 Pancreatic Lipase Deficiency Pancreatic Lipase Deficiency "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase." C165258 Cellosaurus Disease Terminology C45843 Pancreatic Mixed Adenoneuroendocrine Carcinoma Pancreatic Mixed Adenoneuroendocrine Carcinoma Mixed Exocrine-Endocrine Carcinoma of the Pancreas || Pancreatic Carcinoma with Mixed Differentiation || Pancreatic Mixed Neuroendocrine-Non-Neuroendocrine Carcinoma "A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss." C165258 Cellosaurus Disease Terminology C41247 Pancreatic Mucinous-Cystic Neoplasm Pancreatic Mucinous-Cystic Neoplasm Pancreatic Mucinous Cystic Neoplasm A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation. C165258 Cellosaurus Disease Terminology C27720 Pancreatic Neuroendocrine Tumor Pancreatic Neuroendocrine Tumor Islet Cell Tumor || Pancreatic NET || Well Differentiated Pancreatic Endocrine Neoplasm || Well Differentiated Pancreatic Endocrine Tumor "A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional." C165258 Cellosaurus Disease Terminology C45835 Pancreatic Neuroendocrine Tumor G2 Pancreatic Neuroendocrine Tumor G2 Pancreatic NET G2 || Well Differentiated Pancreatic Endocrine Carcinoma || Well Differentiated Pancreatic Neuroendocrine Carcinoma An intermediate grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3-20%. C165258 Cellosaurus Disease Terminology C172814 Pancreatic Neuroendocrine Tumor G3 Pancreatic Neuroendocrine Tumor G3 "A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the pancreas. The Ki-67 index is higher than 20%." C165258 Cellosaurus Disease Terminology C4446 Pancreatic Serotonin-Producing Neuroendocrine Tumor Pancreatic Serotonin-Producing Neuroendocrine Tumor "EC Cell, Serotonin Producing Pancreatic NET || EC Cell, Serotonin Producing Pancreatic Neuroendocrine Tumor || Enterochromaffin Cell Serotonin-Producing Pancreatic Neuroendocrine Tumor || Pancreatic Serotonin Producing Neoplasm || Pancreatic Serotonin Producing Tumor || Serotonin-Producing Pancreatic Neuroendocrine Tumor || Serotonin-Producing Tumor of Pancreas || Serotonin-Producing Tumor of the Pancreas" "A pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver or retroperitoneum, it produces the carcinoid syndrome. Most cases are graded G1 or G2." C165258 Cellosaurus Disease Terminology C95583 Pancreatic Small Cell Carcinoma Pancreatic Small Cell Neuroendocrine Carcinoma Pancreatic Small Cell Carcinoma || Pancreatic Small Cell NEC || Pancreatic Small Cell NEC G3 "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." C165258 Cellosaurus Disease Terminology C95595 Pancreatic Somatostatinoma Pancreatic Somatostatinoma "A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." C165258 Cellosaurus Disease Terminology C5722 Pancreatic Undifferentiated Carcinoma Pancreatic Undifferentiated Carcinoma Pancreatic Carcinosarcoma || Pleomorphic Large Cell Pancreatic Carcinoma || Sarcomatoid Pancreatic Carcinoma || Spindle Cell Pancreatic Carcinoma || Undifferentiated (Anaplastic) Pancreatic Carcinoma || Undifferentiated Carcinoma of Pancreas || Undifferentiated Carcinoma of the Pancreas || Undifferentiated Pancreatic Carcinoma "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." C165258 Cellosaurus Disease Terminology C4265 Pancreatoblastoma Pancreatoblastoma "A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis." C165258 Cellosaurus Disease Terminology C110940 Panhypopituitarism Panhypopituitarism Complete Hypopituitarism Insufficient production of all the anterior pituitary hormones. C165258 Cellosaurus Disease Terminology C84988 Pantothenate Kinase-Associated Neurodegeneration Pantothenate Kinase-Associated Neurodegeneration "A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes." C165258 Cellosaurus Disease Terminology C21763 Papillary Adenoma of the Mouse Pulmonary System Papillary Adenoma of the Mouse Pulmonary System C165258 Cellosaurus Disease Terminology C4725 Papillary Craniopharyngioma Papillary Craniopharyngioma Papillary Neoplasm of Rathke's Pouch || Papillary Rathke Pouch Neoplasm || Papillary Rathke's Pouch Neoplasm || Papillary Rathke's Pouch Tumor || Papillary Tumor of Rathke's Pouch "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" C165258 Cellosaurus Disease Terminology C6975 Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma "Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma." C165258 Cellosaurus Disease Terminology C21803 Papilloma of the Mouse Skin Papilloma of the Mouse Skin C165258 Cellosaurus Disease Terminology C156757 Parathyroid Gland Adenoma Parathyroid Gland Adenoma "A benign ovoid parathyroid gland neoplasm surrounded by a pseudocapsule. It is composed of chief cells, clear cells, oncocytic cells, or a mixture of cell types. It lacks the morphological characteristics of parathyroid gland carcinoma and there is no evidence of capsular invasion, vascular invasion, and perineural invasion." C165258 Cellosaurus Disease Terminology C4906 Parathyroid Gland Carcinoma Parathyroid Gland Carcinoma Adenocarcinoma of Parathyroid || Adenocarcinoma of Parathyroid Gland || Adenocarcinoma of the Parathyroid || Adenocarcinoma of the Parathyroid Gland || Cancer of Parathyroid Gland || Cancer of the Parathyroid Gland || Carcinoma of Parathyroid || Carcinoma of Parathyroid Gland || Carcinoma of the Parathyroid || Carcinoma of the Parathyroid Gland || Parathyroid Adenocarcinoma || Parathyroid Cancer || Parathyroid Carcinoma || Parathyroid Gland Adenocarcinoma || Parathyroid Gland Cancer "A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion." C165258 Cellosaurus Disease Terminology C184990 "Parkinson Disease 6, Early Onset" "Parkinson Disease 6, Early Onset" "An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PINK1 gene, encoding serine/threonine-protein kinase PINK1, mitochondrial." C165258 Cellosaurus Disease Terminology C26845 Parkinson's Disease Parkinson's Disease Parkinson Disease "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression." C165258 Cellosaurus Disease Terminology C5941 Parotid Gland Adenocarcinoma Parotid Gland Adenocarcinoma Adenocarcinoma of Parotid || Adenocarcinoma of Parotid Gland || Adenocarcinoma of the Parotid || Adenocarcinoma of the Parotid Gland || Parotid Adenocarcinoma "An adenocarcinoma that arises from the parotid gland. Representative examples include acinic cell carcinoma, basal cell adenocarcinoma, cystadenocarcinoma, and oncocytic carcinoma." C165258 Cellosaurus Disease Terminology C5938 Parotid Gland Mucoepidermoid Carcinoma Parotid Gland Mucoepidermoid Carcinoma Mucoepidermoid Carcinoma of Parotid || Mucoepidermoid Carcinoma of Parotid Gland || Mucoepidermoid Carcinoma of the Parotid || Mucoepidermoid Carcinoma of the Parotid Gland || Parotid Mucoepidermoid Carcinoma "A carcinoma that arises from the parotid gland. It usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. It usually spreads to pre-auricular lymph nodes. The majority of cases have a favorable outcome." C165258 Cellosaurus Disease Terminology C4650 Parotid Gland Pleomorphic Adenoma Parotid Gland Pleomorphic Adenoma Benign Mixed Tumor of Parotid Gland || Benign Mixed Tumor of the Parotid Gland || Parotid Gland Benign Mixed Tumor || Parotid Pleomorphic Adenoma || Pleomorphic Adenoma of Parotid || Pleomorphic Adenoma of Parotid Gland || Pleomorphic Adenoma of the Parotid || Pleomorphic Adenoma of the Parotid Gland "A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men." C165258 Cellosaurus Disease Terminology C5942 Parotid Gland Squamous Cell Carcinoma Parotid Gland Squamous Cell Carcinoma Parotid Squamous Cell Carcinoma || Squamous Cell Carcinoma of Parotid || Squamous Cell Carcinoma of Parotid Gland || Squamous Cell Carcinoma of the Parotid || Squamous Cell Carcinoma of the Parotid Gland "An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." C165258 Cellosaurus Disease Terminology C61233 Paroxysmal Nocturnal Hemoglobinuria Paroxysmal Nocturnal Hemoglobinuria Paroxysmal Hemoglobinuria "A rare acquired hematologic disorder characterized by hemolytic anemia, dark-colored urine due to the release of hemoglobin in the blood, and thrombosis. The episodes of hemolysis tend to occur at night. It is caused by a somatic mutation in the glycosylphosphatidylinositol biosynthesis gene." C165258 Cellosaurus Disease Terminology C120192 Partial Androgen Insensitivity Syndrome Partial Androgen Insensitivity Syndrome "A genetic disorder associated with a mutation in the AR gene, resulting in partial resistance to androgenic hormones." C165258 Cellosaurus Disease Terminology C122812 Partial Epilepsy Partial Epilepsy A seizure caused by a localized disorder. C165258 Cellosaurus Disease Terminology C84492 Patent Ductus Arteriosus Patent Ductus Arteriosus "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." C165258 Cellosaurus Disease Terminology C157149 Pathological Myopia Pathological Myopia A sub-type of myopia characterized by high myopia with any posterior myopia-specific pathology resulting from axial elongation. C165258 Cellosaurus Disease Terminology C115326 Pearson Syndrome Pearson Syndrome "The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease." C165258 Cellosaurus Disease Terminology C75487 Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher Disease "An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X. The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy." C165258 Cellosaurus Disease Terminology C34909 Pemphigus Pemphigus A blistering skin disorder. Morphologically it is characterized by acantholysis and intraepidermal blister formation. C165258 Cellosaurus Disease Terminology C34910 Pemphigus Vulgaris Pemphigus Vulgaris An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes. C165258 Cellosaurus Disease Terminology C121745 Pendred Syndrome Pendred Syndrome A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. C165258 Cellosaurus Disease Terminology C89802 Penta X Syndrome Penta X Syndrome "49, XXXXX Syndrome || XXXXX Syndrome" A rare sex chromosome abnormality in which a female child has 3 extra X chromosomes. C165258 Cellosaurus Disease Terminology C27322 Periampullary Adenocarcinoma Periampullary Adenocarcinoma An adenocarcinoma that arises from the periampullary region. C165258 Cellosaurus Disease Terminology C118676 Perinatal Mortality Perinatal Mortality Perinatal Death "Fetal or infant death during the period of time that includes the antepartum, intrapartum, and neonatal stages." C165258 Cellosaurus Disease Terminology C171602 Peripartum Cardiomyopathy Peripartum Cardiomyopathy A condition presenting toward the end of pregnancy or in the months following delivery characterized by left ventricular dysfunction. The NHLBI introduced the metric of left ventricular ejection fraction of less than 45 percent in 1999. MicroRNA-146a has been cited as a potential biomarker for PPCM. C165258 Cellosaurus Disease Terminology C9341 Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Peripheral Neuroectodermal Neoplasm || Peripheral Neuroectodermal Tumor || Peripheral Neuroepithelioma || Peripheral PNET || Peripheral Primitive Neuroectodermal Neoplasm A small round cell tumor with neural differentiation arising from the soft tissues or bone. C165258 Cellosaurus Disease Terminology C8776 Peripheral Primitive Neuroectodermal Tumor of Bone Peripheral Primitive Neuroectodermal Tumor of Bone Bone Peripheral Neuroepithelioma || Osseous Peripheral Neuroepithelioma || Peripheral Neuroectodermal Tumor of Bone || Peripheral Neuroectodermal Tumor of the Bone || Peripheral Neuroepithelioma of Bone || Peripheral Neuroepithelioma of the Bone A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain. C165258 Cellosaurus Disease Terminology C3501 Peripheral Sensory Neuropathy Peripheral Sensory Neuropathy Inflammation or degeneration of the sensory nerves. C165258 Cellosaurus Disease Terminology C9350 Peritoneal Malignant Mesothelioma Peritoneal Malignant Mesothelioma Malignant Mesothelioma of Peritoneum || Malignant Mesothelioma of the Peritoneum || Malignant Peritoneal Mesothelioma An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. C165258 Cellosaurus Disease Terminology C103144 Perlman Syndrome Perlman Syndrome "Renal Hamartomas, Nephroblastomatosis and Fetal Gigantism" "A rare, autosomal recessive syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is poor." C165258 Cellosaurus Disease Terminology C114902 Permanent Neonatal Diabetes Mellitus Permanent Neonatal Diabetes Mellitus "Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that does not resolve spontaneously." C165258 Cellosaurus Disease Terminology C170437 Peroxisomal Acyl-CoA Oxidase Deficiency Peroxisomal Acyl-CoA Oxidase Deficiency Straight-Chain Acyl-CoA Oxidase Deficiency "An autosomal recessive condition caused by mutation(s) in the ACOX1 gene, encoding peroxisomal acyl-coenzyme A oxidase 1. It is characterized by increased concentrations of serum VLCFA and lack of ACOX1 activity. The clinical manifestations of this disease are similar to those of disorders of peroxisomal assembly." C165258 Cellosaurus Disease Terminology C155748 Peroxisome Biogenesis Disorder 1A Peroxisome Biogenesis Disorder 1A "An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome." C165258 Cellosaurus Disease Terminology C155750 Peroxisome Biogenesis Disorder 2A Peroxisome Biogenesis Disorder 2A "An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2A manifests phenotypically as Zellweger syndrome." C165258 Cellosaurus Disease Terminology C155751 Peroxisome Biogenesis Disorder 2B Peroxisome Biogenesis Disorder 2B "An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease." C165258 Cellosaurus Disease Terminology C155752 Peroxisome Biogenesis Disorder 3A Peroxisome Biogenesis Disorder 3A "An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3A manifests phenotypically as Zellweger syndrome." C165258 Cellosaurus Disease Terminology C155760 Peroxisome Biogenesis Disorder 7A Peroxisome Biogenesis Disorder 7A "An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome." C165258 Cellosaurus Disease Terminology C155761 Peroxisome Biogenesis Disorder 7B Peroxisome Biogenesis Disorder 7B "An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease." C165258 Cellosaurus Disease Terminology C155762 Peroxisome Biogenesis Disorder 8A Peroxisome Biogenesis Disorder 8A "An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome." C165258 Cellosaurus Disease Terminology C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy Persistent Hyperinsulinemic Hypoglycemia of Infancy Familial Hyperinsulinemic Hypoglycemia-1 "A genetic condition caused by mutation(s) in the ABCC8 gene, encoding ATP-binding cassette sub-family C member 8." C165258 Cellosaurus Disease Terminology C98880 Persistent Truncus Arteriosus Persistent Truncus Arteriosus Truncus Arteriosus "A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death." C165258 Cellosaurus Disease Terminology C34766 Perthes Disease Perthes Disease Legg-Calve-Perthes Disease A very rare disorder of unknown etiology affecting children. It is characterized by avascular necrosis of the femoral head. C165258 Cellosaurus Disease Terminology C97179 Pervasive Developmental Disorder Pervasive Developmental Disorder A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. C165258 Cellosaurus Disease Terminology C123436 Peters-Plus Syndrome Peters-Plus Syndrome "A rare, autosomal recessive inherited syndrome caused by mutations in the B3GALTL gene. It is characterized by abnormalities in the anterior chamber of the eye, short stature, cleft lip with or without cleft palate, distinctive facial features, and intellectual disability." C165258 Cellosaurus Disease Terminology C124839 Pettigrew Syndrome Pettigrew Syndrome PGS "A rare, X-linked inherited syndrome characterized by mental retardation and additional features, which include choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain." C165258 Cellosaurus Disease Terminology C3324 Peutz-Jeghers Syndrome Peutz-Jeghers Syndrome Jeghers-Peutz Syndrome || Peutz's Syndrome "An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome." C165258 Cellosaurus Disease Terminology C102872 Pharyngeal Squamous Cell Carcinoma Pharyngeal Squamous Cell Carcinoma A squamous cell carcinoma that arises from the pharynx. C165258 Cellosaurus Disease Terminology C157124 Phelan-McDermid Syndrome Phelan-McDermid Syndrome Chromosome 22q13.3 Deletion Syndrome "An autosomal dominant condition caused by mutation(s) and or deletion of the SHANK3 gene, encoding SH3 and multiple ankyrin repeat domains protein 3. It is characterized by variable features, which may include intellectual disability, autism spectrum disorder, developmental delay and mild dysmorphic features." C165258 Cellosaurus Disease Terminology C81315 Phenylketonuria Phenylketonuria "An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays." C165258 Cellosaurus Disease Terminology C126738 Phosphoglycerate Kinase 1 Deficiency Phosphoglycerate Kinase 1 Deficiency "An X-linked recessive inherited disorder caused by mutations in the PGK1 gene. Clinical manifestations include hemolytic anemia, myopathy, and neurologic involvement." C165258 Cellosaurus Disease Terminology C176700 Phosphorus-32 Beta Radiation Phosphorus-32 Beta Radiation Beta radiation produced by the decay of phosphorous-32. C165258 Cellosaurus Disease Terminology C85008 Pick's Disease Pick's Disease Pick Disease A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies. C165258 Cellosaurus Disease Terminology C134949 Pike Sarcoma Pike Sarcoma Sarcoma that occurs in a pike. C165258 Cellosaurus Disease Terminology C4047 Pilocytic Astrocytoma Pilocytic Astrocytoma Grade 1 Astrocytic Neoplasm || Grade 1 Astrocytic Tumor || Grade 1 Astrocytoma || Grade I Astrocytic Neoplasm || Grade I Astrocytic Tumor || Grade I Astrocytoma "A WHO grade 1, relatively circumscribed, slowly growing, often cystic astrocytoma occurring in children and young adults. Histologically it is characterized by a biphasic pattern with compacted bipolar cells associated with Rosenthal fibers and multipolar cells associated with microcysts and eosinophilic bodies/hyaline droplets. (WHO)" C165258 Cellosaurus Disease Terminology C8712 Pineal Region Germinoma Pineal Region Germinoma Pineal Germinoma A germinoma that arises from the pineal gland. C165258 Cellosaurus Disease Terminology C129872 Pitt-Hopkins Syndrome Pitt-Hopkins Syndrome "An autosomal dominant condition caused by mutation(s) on the TCF4 gene, encoding transcription factor 4. It is characterized by intellectual disability, developmental delay, breathing problems and seizures." C165258 Cellosaurus Disease Terminology C94524 Pituicytoma Pituicytoma Pituicytoma (WHO Grade 1) || Pituicytoma (WHO Grade I) || Posterior Pituitary Astrocytoma "An extremely rare, WHO grade 1, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." C165258 Cellosaurus Disease Terminology C3329 Pituitary Gland Adenoma Pituitary Neuroendocrine Tumor Adenoma of Pituitary || Adenoma of Pituitary Gland || Adenoma of the Pituitary || Adenoma of the Pituitary Gland || PitNET/Adenoma || Pituitary Adenoma || Pituitary Neuroendocrine Tumor (Formerly Pituitary Adenoma) || Pituitary Neuroendocrine Tumor/Adenoma "A well-differentiated neuroendocrine neoplasm that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. It has a low frequency of metastatic spread. When metastatic, the term metastatic pituitary neuroendocrine tumor is endorsed instead of pituitary carcinoma. (WHO)" C165258 Cellosaurus Disease Terminology C4536 Pituitary Gland Carcinoma Metastatic Pituitary Neuroendocrine Tumor Cancer of Pituitary || Cancer of Pituitary Gland || Cancer of the Pituitary || Cancer of the Pituitary Gland || Carcinoma of Pituitary || Carcinoma of Pituitary Gland || Carcinoma of the Pituitary || Carcinoma of the Pituitary Gland || Metastatic PitNET || Metastatic Pituitary Gland Carcinoma || Pituitary Carcinoma || Pituitary Gland Adenocarcinoma || Pituitary Gland Cancer Pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site. C165258 Cellosaurus Disease Terminology C3242 Plasma Cell Myeloma Plasma Cell Myeloma Multiple Myeloma || Myeloma "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C7224 Plasmablastic Lymphoma Plasmablastic Lymphoma "An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone." C165258 Cellosaurus Disease Terminology C133884 Plasminogen Activator Inhibitor-1 Deficiency Plasminogen Activator Inhibitor-1 Deficiency "An autosomal recessive condition caused by mutation(s) in the PAI1 gene, encoding plasminogen activator inhibitor 1. It is characterized by increased bleeding following trauma, injury, or surgery and in women, menorrhagia." C165258 Cellosaurus Disease Terminology C3705 Pleomorphic Liposarcoma Pleomorphic Liposarcoma "A rare, aggressive liposarcoma characterized by the presence of varying proportions of pleomorphic lipoblasts in a background that resembles undifferentiated pleomorphic sarcoma." C165258 Cellosaurus Disease Terminology C4258 Pleomorphic Rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities." C165258 Cellosaurus Disease Terminology C45665 Pleural Biphasic Mesothelioma Pleural Biphasic Mesothelioma "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." C165258 Cellosaurus Disease Terminology C45664 Pleural Desmoplastic Mesothelioma Pleural Desmoplastic Mesothelioma Malignant mesothelioma that arises from the pleura. It is characterized by the presence of dense collagenized stroma occupying at least 50% of the tumor. The malignant cells are arranged in a vague storiform pattern. C165258 Cellosaurus Disease Terminology C45662 Pleural Epithelioid Mesothelioma Pleural Epithelioid Mesothelioma "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." C165258 Cellosaurus Disease Terminology C7376 Pleural Malignant Mesothelioma Pleural Malignant Mesothelioma Malignant Mesothelioma of Pleura || Malignant Mesothelioma of the Pleura || Malignant Pleural Mesothelioma || Pleural Diffuse Malignant Mesothelioma "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." C165258 Cellosaurus Disease Terminology C45663 Pleural Sarcomatoid Mesothelioma Pleural Sarcomatoid Mesothelioma Malignant mesothelioma that arises from the pleura. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen. C165258 Cellosaurus Disease Terminology C26860 Pleuritis Pleuritis Pleurisy Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom. C165258 Cellosaurus Disease Terminology C129642 Plutonium-238 Alpha Particle Radiation Plutonium-238 Alpha Particle Radiation Alpha rays produced by the decay of plutonium-238. C165258 Cellosaurus Disease Terminology C160658 Plutonium-239 Alpha Particle Radiation Plutonium-239 Alpha Particle Radiation Alpha rays produced by the decay of plutonium-239. C165258 Cellosaurus Disease Terminology C134962 Poeciliopsis Lucida Hepatocellular Carcinoma Poeciliopsis Lucida Hepatocellular Carcinoma Hepatocellular carcinoma that occurs in Poeciliopsis lucida. C165258 Cellosaurus Disease Terminology C53975 Poikiloderma Poikiloderma "A localized skin condition commonly associated with sun exposure that is characterized by variegated discoloration, telangiectasia and atrophy." C165258 Cellosaurus Disease Terminology C177535 Poikiloderma with Neutropenia Poikiloderma with Neutropenia "An autosomal recessive condition caused by mutation(s) in the USB1 gene, encoding U6 snRNA phosphodiesterase. It is characterized by poikiloderma and chronic noncyclic neutropenia." C165258 Cellosaurus Disease Terminology C75464 Polycystic Kidney Disease Polycystic Kidney Disease PKD - Polycystic Kidney Disease "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis." C165258 Cellosaurus Disease Terminology C177539 "Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis" "Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis" Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis || TSC2-PKD1 Contiguous Gene Deletion Syndrome "An autosomal dominant condition caused by a contiguous gene deletion involving the PKD1 and TSC2 genes, encoding polycystin-1 and tuberin respectively. It is characterized by polycystic kidneys and tuberous sclerosis." C165258 Cellosaurus Disease Terminology C26862 Polycystic Ovary Syndrome Polycystic Ovary Syndrome Polycystic Ovarian Disease || Stein-Leventhal Syndrome "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." C165258 Cellosaurus Disease Terminology C3336 Polycythemia Vera Polycythemia Vera Polycythemia Rubra Vera "A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. The bone marrow is hypercellular due to a panmyelotic proliferation typically characterized by pleomorphic megakaryocytes. The major symptoms are related to hypertension, splenomegaly or to episodes of thrombosis and/or hemorrhage." C165258 Cellosaurus Disease Terminology C87110 Polydactyly Polydactyly Hyperdactyly || Polydactylism A congenital abnormality characterized by more than 5 digits on a hand or foot. C165258 Cellosaurus Disease Terminology C125597 Polysyndactyly Polysyndactyly A rare anatomical malformation characterized by polydactyly (extra fingers or toes) and syndactyly (webbed fingers or toes). C165258 Cellosaurus Disease Terminology C190872 Pontocerebellar Hypoplasia Type 1B Pontocerebellar Hypoplasia Type 1B "An autosomal recessive condition caused by mutation(s) in the EXOSC3 gene, encoding exosome complex component RRP40. It is characterized by severe intellectual disability, skeletal muscle weakness, and seizures." C165258 Cellosaurus Disease Terminology C6040 Poorly Differentiated Thyroid Gland Carcinoma Poorly Differentiated Thyroid Gland Carcinoma Insular Carcinoma || Poorly Differentiated Carcinoma of Thyroid Gland || Poorly Differentiated Carcinoma of the Thyroid Gland || Poorly Differentiated Thyroid Carcinoma || Thyroid Gland Poorly Differentiated Carcinoma A follicular-derived thyroid gland carcinoma that is histologically poorly differentiated and has high-grade features. C165258 Cellosaurus Disease Terminology C141365 Porcine Leukemia Porcine Leukemia Leukemia that occurs in a pig. C165258 Cellosaurus Disease Terminology C134786 Porcine Lymphoma Porcine Lymphoma Lymphoma that occurs in a pig. C165258 Cellosaurus Disease Terminology C85019 Porokeratosis Porokeratosis A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella. C165258 Cellosaurus Disease Terminology C27725 Porphyria Cutanea Tarda Porphyria Cutanea Tarda "A cutaneous form of the genetic photosensitive disease, porphyria, that is characterized by onset in adult life and the presence of scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia. Uroporphyrins are found in the urine due to a deficiency of uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme." C165258 Cellosaurus Disease Terminology C124846 Potocki-Lupski Syndrome Potocki-Lupski Syndrome 17p11.2 Duplication Syndrome || PTLS "A rare genetic disorder characterized by hypotonia, failure to thrive, mental retardation, developmental disorders, congenital anomalies, and autism spectrum disorders. The majority of patients harbor a microduplication of chromosome 17p11." C165258 Cellosaurus Disease Terminology C75456 Potocki-Shaffer Syndrome Potocki-Shaffer Syndrome A very rare genetic syndrome caused by deletions on the proximal short arm of chromosome 11. It is characterized by the presence of multiple exostoses and enlarged parietal foramina. C165258 Cellosaurus Disease Terminology C75463 Prader-Willi Syndrome Prader-Willi Syndrome "A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism." C165258 Cellosaurus Disease Terminology C80099 Premature Menopause Premature Menopause Premature Ovarian Failure "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive." C165258 Cellosaurus Disease Terminology C54936 "Premature Ventricular Contraction, CTCAE" "Premature Ventricular Contraction, CTCAE" C165258 Cellosaurus Disease Terminology C132292 Presynaptic Congenital Myasthenic Syndrome 6 Presynaptic Congenital Myasthenic Syndrome 6 "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." C165258 Cellosaurus Disease Terminology C188151 "Primary Aldosteronism, Seizures, and Neurologic Abnormalities" "Primary Aldosteronism, Seizures, and Neurologic Abnormalities" "An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects." C165258 Cellosaurus Disease Terminology C98864 Primary Carnitine Deficiency Primary Carnitine Deficiency Carnitine Transporter Deficiency || Carnitine Uptake Deficiency || Systemic Primary Carnitine Deficiency "An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting." C165258 Cellosaurus Disease Terminology C7155 Primary Central Chondrosarcoma Primary Central Chondrosarcoma Primary Bone Chondrosarcoma || Primary Chondrosarcoma || Primary Chondrosarcoma of Bone || Primary Chondrosarcoma of the Bone A chondrosarcoma arising from the central portion of bone without a benign precursor. C165258 Cellosaurus Disease Terminology C128117 Primary Ciliary Dyskinesia 1 Primary Ciliary Dyskinesia 1 "An autosomal recessive primary ciliary motility defect caused by mutation(s) in the DNAI1 gene, encoding dynein intermediate chain 1, axonemal." C165258 Cellosaurus Disease Terminology C155999 Primary Ciliary Dyskinesia 15 Primary Ciliary Dyskinesia 15 "An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCDC40 gene, encoding coiled-coil domain-containing protein 40." C165258 Cellosaurus Disease Terminology C172393 Primary Ciliary Dyskinesia 29 Primary Ciliary Dyskinesia 29 "An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCNO gene, encoding cyclin-O." C165258 Cellosaurus Disease Terminology C172392 Primary Ciliary Dyskinesia 3 Primary Ciliary Dyskinesia 3 "An inherited ciliary motility defect caused by mutation(s) in the DNAH5 gene, encoding dynein heavy chain 5, axonemal." C165258 Cellosaurus Disease Terminology C150251 Primary Congenital Glaucoma Primary Congenital Glaucoma "Congenital glaucoma that arises independent of another pathologic process, disease, or injury." C165258 Cellosaurus Disease Terminology C148260 Primary Congenital Glaucoma 3A Primary Congenital Glaucoma 3A "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1." C165258 Cellosaurus Disease Terminology C3467 Primary Cutaneous T-Cell Non-Hodgkin Lymphoma Primary Cutaneous T-Cell Non-Hodgkin Lymphoma Cutaneous T Cell Lymphoma || Cutaneous T-Cell Non-Hodgkin Lymphoma || Cutaneous T-Cell Non-Hodgkin's Lymphoma || Primary Cutaneous T-Cell Non-Hodgkin's Lymphoma || Skin T-Cell Non-Hodgkin's Lymphoma || T-Cell Non-Hodgkin's Lymphoma of Skin || T-Cell Non-Hodgkin's Lymphoma of the Skin A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. C165258 Cellosaurus Disease Terminology C6915 Primary Effusion Lymphoma Primary Effusion Lymphoma "A large B-cell lymphoma usually presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV8), also called Kaposi sarcoma-associated herpesvirus. It mostly occurs in the setting of immunodeficiency. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. Rare HHV8-positive lymphomas indistinguishable from primary effusion lymphomas (PEL) present as solid tumor masses, and have been termed extracavitary PEL. The prognosis is extremely unfavorable. (WHO 2017)" C165258 Cellosaurus Disease Terminology C125383 Primary Erythromelalgia Primary Erythromelalgia Primary Erythermalgia || Primary Erythromelalgia "An autosomal dominant condition caused by mutation(s) in the SCN9A gene, encoding sodium channel protein type 9 subunit alpha. It is characterized by episodes of recurrent warmth, redness, and burning sensations in the extremities." C165258 Cellosaurus Disease Terminology C123212 Primary Hyperoxaluria Type I Primary Hyperoxaluria Type I Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency. C165258 Cellosaurus Disease Terminology C179057 "Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Type 1" "Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Type 1" "An autosomal recessive subtype of primary hypertrophic osteoarthropathy caused by mutation(s) in the HPGD gene, encoding 15-hydroxyprostaglandin dehydrogenase [NAD+]." C165258 Cellosaurus Disease Terminology C129933 Primary Lateral Sclerosis Primary Lateral Sclerosis "A progressive neurodegenerative disorder affecting upper motor neurons, characterized by progressive muscle weakness." C165258 Cellosaurus Disease Terminology C9280 Primary Mediastinal (Thymic) Large B-Cell Lymphoma Primary Mediastinal (Thymic) Large B-Cell Lymphoma B-Cell Diffuse Large Cell Lymphoma of Mediastinum || B-Cell Diffuse Large Cell Lymphoma of the Mediastinum || Mediastinal B-Cell Diffuse Large Cell Lymphoma || Primary Mediastinal Large B-Cell Lymphoma "A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C2862 Primary Myelofibrosis Primary Myelofibrosis Agnogenic Myeloid Metaplasia || Idiopathic Bone Marrow Fibrosis || Idiopathic Myelofibrosis || Myelosclerosis with Myeloid Metaplasia "A chronic myeloproliferative neoplasm characterized by bone marrow fibrosis, proliferation of atypical megakaryocytes and granulocytes in the bone marrow, anemia, splenomegaly, and extramedullary hematopoiesis. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C35394 Primary Open Angle Glaucoma Primary Open Angle Glaucoma A form of glaucoma in which there is no visible abnormality in the trabecular meshwork. C165258 Cellosaurus Disease Terminology C40022 Primary Peritoneal Carcinoma Primary Peritoneal Carcinoma "A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement." C165258 Cellosaurus Disease Terminology C7695 Primary Peritoneal Serous Papillary Adenocarcinoma Primary Peritoneal Serous Papillary Adenocarcinoma Primary Peritoneal Serous Papillary Carcinoma || Primary Serous Papillary Carcinoma of Peritoneum "A rare, serous papillary adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous papillary adenocarcinoma that arises from the ovary." C165258 Cellosaurus Disease Terminology C39898 Primary Prostate Urothelial Carcinoma Primary Prostate Urothelial Carcinoma Prostate Transitional Cell Carcinoma || Prostate Urothelial Carcinoma || Transitional Cell Carcinoma of Prostate || Transitional Cell Carcinoma of the Prostate An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra. C165258 Cellosaurus Disease Terminology C174219 Primary Pulmonary Hypertension-1 Primary Pulmonary Hypertension-1 "An autosomal dominant type of primary pulmonary hypertension caused by mutation(s) in the BMPR2 gene, encoding bone morphogenetic protein receptor type-2." C165258 Cellosaurus Disease Terminology C3716 Primitive Neuroectodermal Tumor Primitive Neuroectodermal Tumor Neuroectodermal Neoplasm || Neuroectodermal Tumor || Neuroepithelioma || Primitive Neuroectodermal Neoplasm A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors. C165258 Cellosaurus Disease Terminology C34951 Progeria Progeria Hutchinson-Gilford Disease || Hutchinson-Gilford Progeria Syndrome || Premature Senility Syndrome "A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis." C165258 Cellosaurus Disease Terminology C85026 Progressive Bulbar Palsy Progressive Bulbar Palsy "A progressive motor neuron disorder affecting the muscles which are innervated by cranial nerves of the lower brain stem. Signs and symptoms include difficulties in chewing and swallowing, dysarthria, and weakness of the facial muscles and tongue." C165258 Cellosaurus Disease Terminology C126651 "Progressive Familial Heart Block, Type Ia" "Progressive Familial Heart Block, Type Ia" Lenegre's Disease || Lenegre-Lev Disease || PFHB1A An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block. C165258 Cellosaurus Disease Terminology C84453 Progressive Familial Intrahepatic Cholestasis Progressive Familial Intrahepatic Cholestasis A genetic syndrome affecting infants and children. It is characterized by chronic intrahepatic cholestasis usually progressing to cirrhosis within the first ten years of life. C165258 Cellosaurus Disease Terminology C85027 Progressive Muscular Atrophy Progressive Muscular Atrophy "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation." C165258 Cellosaurus Disease Terminology C85028 Progressive Supranuclear Palsy Progressive Supranuclear Palsy Steele-Richardson-Olszewski Syndrome A rare neurodegenerative disorder characterized by gait and balance difficulties and loss of coordination of eye movements. C165258 Cellosaurus Disease Terminology C85029 Prolidase Deficiency Prolidase Deficiency "A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities." C165258 Cellosaurus Disease Terminology C85030 Propionic Acidemia Propionic Acidemia "A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy." C165258 Cellosaurus Disease Terminology C39903 Prostate Adenocarcinoma with Neuroendocrine Differentiation Prostate Adenocarcinoma with Neuroendocrine Differentiation An invasive prostate adenocarcinoma characterized by the presence of malignant cells that exhibit neuroendocrine differentiation. C165258 Cellosaurus Disease Terminology C4863 Prostate Carcinoma Prostate Carcinoma Cancer of Prostate || Cancer of the Prostate || Carcinoma of Prostate || Carcinoma of the Prostate || Prostate Cancer "One of the most common malignant tumors afflicting men. The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland. Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes. Adenocarcinomas represent the overwhelming majority of prostatic carcinomas. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease." C165258 Cellosaurus Disease Terminology C6766 Prostate Small Cell Carcinoma Prostate Small Cell Neuroendocrine Carcinoma Prostate Small Cell Carcinoma || Prostate Small Cell NEC || Small Cell Carcinoma of Prostate || Small Cell Carcinoma of the Prostate A rare small cell neuroendocrine carcinoma that arises from the prostate gland. C165258 Cellosaurus Disease Terminology C5536 Prostate Squamous Cell Carcinoma Prostate Squamous Cell Carcinoma Squamous Cell Carcinoma of Prostate || Squamous Cell Carcinoma of the Prostate An invasive prostate carcinoma characterized by the presence of malignant cells with squamous differentiation. There is no evidence of glandular differentiation. C165258 Cellosaurus Disease Terminology C176619 Proteasome-Associated Autoinflammatory Syndrome 1 Proteasome-Associated Autoinflammatory Syndrome 1 Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome "An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever." C165258 Cellosaurus Disease Terminology C85032 Proteus Syndrome Proteus Syndrome "A very rare congenital disorder characterized by the development of multiple cutaneous and subcutaneous lesions including lipomas, nevi, and vascular malformations, associated with partial gigantism or digital overgrowth." C165258 Cellosaurus Disease Terminology C85033 Prune Belly Syndrome Prune Belly Syndrome Eagle-Barrett Syndrome "A rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes." C165258 Cellosaurus Disease Terminology C118635 Pseudoachondroplasia Pseudoachondroplasia "A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips." C165258 Cellosaurus Disease Terminology C129934 Pseudobulbar Palsy Pseudobulbar Palsy A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes. C165258 Cellosaurus Disease Terminology C3345 Pseudomyxoma Peritonei Pseudomyxoma Peritonei Gelatinous Ascites || Mucinous Ascites || Myxoma Peritonei || Peritoneal Cavity Pseudomyxoma Peritonei || Well Differentiated Peritoneal Mucinous Adenocarcinoma "A usually well differentiated mucinous adenocarcinoma of the peritoneum. The majority of cases represent tumor spread from a primary low grade mucinous neoplasm of the appendix. Cases of pseudomyxoma peritonei associated with mucinous adenocarcinomas of the gallbladder, stomach, colon, rectum, pancreas, lung, breast, and fallopian tubes have also been reported. In the past, the ovary has been considered as a common primary site associated with pseudomyxoma peritonei. However, there is recent evidence based on immunohistochemistry and molecular genetic analysis suggesting that most cases of pseudomyxoma peritonei probably represent metastasis from an appendiceal and not ovarian primary." C165258 Cellosaurus Disease Terminology C125418 Pseudotrisomy 13 Syndrome Pseudotrisomy 13 Syndrome Holoprosencephaly-Polydactyly Syndrome "A rare syndrome likely inherited in an autosomal recessive pattern. It is characterized by holoprosencephaly, polydactyly, phenotypic features reminiscent of trisomy 13, and normal karyotype." C165258 Cellosaurus Disease Terminology C85036 Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum "A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels." C165258 Cellosaurus Disease Terminology C3346 Psoriasis Psoriasis "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." C165258 Cellosaurus Disease Terminology C78576 Psychosis Psychosis "A mental disorder characterized by personality change, impaired functioning, and loss of touch with reality." C165258 Cellosaurus Disease Terminology C133744 Pterygium Pterygium Pterygium of Conjunctiva and Cornea "A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder." C165258 Cellosaurus Disease Terminology C142825 Pulmonary Artery Intimal Sarcoma Pulmonary Artery Intimal Sarcoma Intimal Sarcoma of the Pulmonary Artery || Pulmonary Artery Sarcoma || Pulmonary Intimal Sarcoma A sarcoma arising from the arterial intima of pulmonary arteries. C165258 Cellosaurus Disease Terminology C3732 Pulmonary Blastoma Pulmonary Blastoma Blastoma of Lung || Blastoma of the Lung || Lung Blastoma || Pneumoblastoma "A biphasic tumor that consists of fetal adenocarcinoma (typically low-grade) and primitive mesenchymal stroma. Foci of specific mesenchymal differentiation (osteosarcoma, chondrosarcoma, or rhabdomyosarcoma) may also be present, but are not required for the diagnosis. Most patients are smokers. The prognosis is very poor. (WHO 2015)" C165258 Cellosaurus Disease Terminology C3120 Pulmonary Hypertension Pulmonary Hypertension Increased pressure within the pulmonary circulation due to lung or heart disorder. C165258 Cellosaurus Disease Terminology C50715 Pulmonary Stenosis Pulmonary Stenosis "Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets." C165258 Cellosaurus Disease Terminology C99068 Pulmonary Surfactant Metabolism Dysfunction-1 Pulmonary Surfactant Metabolism Dysfunction-1 Surfactant Protein B Deficiency "An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant." C165258 Cellosaurus Disease Terminology C99070 Pulmonary Surfactant Metabolism Dysfunction-3 Pulmonary Surfactant Metabolism Dysfunction-3 Interstitial Lung Disease Due To ABCA3 Deficiency || Surfactant Metabolism Dysfunction-3 || Surfactant Protein ABCA3 Deficiency "An autosomal recessive condition caused by mutation(s) in the ABCA3 gene, encoding ATP-binding cassette sub-family A member 3. It is characterized by severe respiratory insufficiency or failure in neonates or infants." C165258 Cellosaurus Disease Terminology C45691 Pyothorax-Associated Lymphoma Pyothorax-Associated Lymphoma Pleural Diffuse Large B-Cell Lymphoma Associated with Chronic Inflammation "An aggressive diffuse large B-cell lymphoma arising in the pleural cavity of patients with a history of long standing pyothorax. Patients present with chest and back pain, fever, productive cough, dyspnea, and hemoptysis." C165258 Cellosaurus Disease Terminology C4943 Pyriform Fossa Squamous Cell Carcinoma Pyriform Fossa Squamous Cell Carcinoma Epidermoid Carcinoma of Pyriform Fossa || Epidermoid Carcinoma of Pyriform Sinus || Epidermoid Carcinoma of the Pyriform Fossa || Epidermoid Carcinoma of the Pyriform Sinus || Pyriform Fossa Epidermoid Carcinoma || Pyriform Sinus Epidermoid Carcinoma || Pyriform Sinus Squamous Cell Carcinoma || Squamous Cell Carcinoma of Pyriform Fossa || Squamous Cell Carcinoma of Pyriform Sinus || Squamous Cell Carcinoma of the Pyriform Fossa || Squamous Cell Carcinoma of the Pyriform Sinus A squamous cell carcinoma that arises from the pyriform sinus. Patients usually present with advanced stage disease and the prognosis is poor. C165258 Cellosaurus Disease Terminology C85040 Pyruvate Carboxylase Deficiency Pyruvate Carboxylase Deficiency Pyruvate Carboxylase Deficiency Disease "A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis." C165258 Cellosaurus Disease Terminology C103968 Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Deficiency "A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia." C165258 Cellosaurus Disease Terminology C99037 Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia. C165258 Cellosaurus Disease Terminology C134950 Quail Fibrosarcoma Quail Fibrosarcoma Fibrosarcoma that occurs in a quail. C165258 Cellosaurus Disease Terminology C133741 Rabbit Cutaneous Lymphoma Rabbit Cutaneous Lymphoma Cutaneous lymphoma that occurs in a rabbit. C165258 Cellosaurus Disease Terminology C133740 Rabbit Fibroma Rabbit Fibroma Fibroma that occurs in a rabbit. C165258 Cellosaurus Disease Terminology C134989 Rabbit Neoplasm Rabbit Neoplasm A neoplasm occurring in a rabbit. C165258 Cellosaurus Disease Terminology C133739 Rabbit Oral Cavity Squamous Cell Carcinoma Rabbit Oral Cavity Squamous Cell Carcinoma Oral cavity squamous cell carcinoma that occurs in a rabbit. C165258 Cellosaurus Disease Terminology C134998 Rabbit Papilloma Rabbit Papilloma Shope Papilloma A rabbit papilloma that is associated with infection by the Shope papilloma virus. C165258 Cellosaurus Disease Terminology C133738 Rabbit Plasmacytoma Rabbit Plasmacytoma Plasmacytoma that occurs in a rabbit. C165258 Cellosaurus Disease Terminology C133883 Rabbit Uterine Carcinoma Rabbit Uterine Carcinoma Uterine carcinoma that occurs in a rabbit. C165258 Cellosaurus Disease Terminology C27962 Radiation Toxicity Radiation Toxicity "toxicity, radiation" C165258 Cellosaurus Disease Terminology C134573 Rainbow Trout Hepatoma Rainbow Trout Hepatoma Oncorhynchus mykiss Hepatoma Hepatoma that occurs in Oncorhynchus mykiss. C165258 Cellosaurus Disease Terminology C136977 Rainbow Trout Mesothelioma Rainbow Trout Mesothelioma A neoplasm arising from the mesothelium that occurs in Oncorhynchus mykiss. C165258 Cellosaurus Disease Terminology C121568 Rat Adrenal Gland Pheochromocytoma Rat Adrenal Gland Pheochromocytoma Rat Pheochromocytoma A benign or malignant neuroendocrine neoplasm of the rat sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the rat adrenal medulla. C165258 Cellosaurus Disease Terminology C60369 Rat C-Cell Carcinoma Rat C-Cell Carcinoma Rat Medullary Thyroid Carcinoma C165258 Cellosaurus Disease Terminology C60372 Rat Cholangiocarcinoma Rat Cholangiocarcinoma C165258 Cellosaurus Disease Terminology C60376 Rat Chondrosarcoma Rat Chondrosarcoma C165258 Cellosaurus Disease Terminology C60377 Rat Choriocarcinoma Rat Choriocarcinoma C165258 Cellosaurus Disease Terminology C60682 Rat Digestive System Neoplasms Rat Digestive System Neoplasms C165258 Cellosaurus Disease Terminology C60395 Rat Endometrial Stromal Sarcoma Rat Endometrial Stromal Sarcoma C165258 Cellosaurus Disease Terminology C135722 Rat Erythroleukemia Rat Erythroleukemia Erythroleukemia that occurs in a rat. C165258 Cellosaurus Disease Terminology C60403 Rat Fibrosarcoma Rat Fibrosarcoma C165258 Cellosaurus Disease Terminology C60416 Rat Hepatocellular Carcinoma Rat Hepatocellular Carcinoma C165258 Cellosaurus Disease Terminology C60419 Rat Histiocytic Sarcoma Rat Histiocytic Sarcoma Histiocytic Sarcoma of the Rat Mononuclear Phagocytic Tissue || Malignant Rat Histiocytosis C165258 Cellosaurus Disease Terminology C121566 Rat Insulinoma Rat Insulinoma An insulin-producing neuroendocrine tumor arising from beta cells of the rat pancreas. C165258 Cellosaurus Disease Terminology C64066 Rat Large Granular Lymphocyte Leukemia Rat Large Granular Lymphocyte Leukemia C165258 Cellosaurus Disease Terminology C60426 Rat Leiomyoma Rat Leiomyoma Leiomyoma of the Rat Soft Tissue || Rat Soft Tissue Leiomyoma C165258 Cellosaurus Disease Terminology C60428 Rat Leukemia Rat Leukemia C165258 Cellosaurus Disease Terminology C60429 Rat Leydig Cell Adenoma Rat Leydig Cell Adenoma C165258 Cellosaurus Disease Terminology C60434 Rat Liposarcoma Rat Liposarcoma C165258 Cellosaurus Disease Terminology C179055 Rat Lymphosarcoma Rat Lymphosarcoma Lymphosarcoma occurring in a rat. C165258 Cellosaurus Disease Terminology C60436 Rat Malignant Astrocytoma Rat Malignant Astrocytoma C165258 Cellosaurus Disease Terminology C60442 Rat Malignant Fibrous Histiocytoma Rat Malignant Fibrous Histiocytoma C165258 Cellosaurus Disease Terminology C64069 Rat Malignant Glioma Rat Malignant Glioma C165258 Cellosaurus Disease Terminology C60448 Rat Malignant Lymphoma Rat Malignant Lymphoma C165258 Cellosaurus Disease Terminology C60451 Rat Malignant Melanoma Rat Malignant Melanoma C165258 Cellosaurus Disease Terminology C124250 Rat Malignant Meningioma Rat Malignant Meningioma Malignant meningioma occurring in a rat. Spontaneously occurring meningiomas in the rat are histologically similar to human meningiomas. C165258 Cellosaurus Disease Terminology C60453 Rat Malignant Mesothelioma Rat Malignant Mesothelioma C165258 Cellosaurus Disease Terminology C60461 Rat Malignant Oligodendroglioma Rat Malignant Oligodendroglioma C165258 Cellosaurus Disease Terminology C125415 Rat Malignant Peripheral Nerve Sheath Tumor Rat Malignant Peripheral Nerve Sheath Tumor A malignant peripheral nerve sheath tumor occurring in a rat. C165258 Cellosaurus Disease Terminology C60465 Rat Malignant Schwannoma Rat Malignant Schwannoma C165258 Cellosaurus Disease Terminology C60468 Rat Malignant Teratoma Rat Malignant Teratoma C165258 Cellosaurus Disease Terminology C60470 Rat Malignant Thymoma Rat Malignant Thymoma C165258 Cellosaurus Disease Terminology C134942 Rat Neoplasms Rat Neoplasms A neoplasm arising in a rat. C165258 Cellosaurus Disease Terminology C60478 Rat Nephroblastoma Rat Nephroblastoma C165258 Cellosaurus Disease Terminology C121567 Rat Neuroblastoma Rat Neuroblastoma A tumor of the rat that arises from nerve tissue outside of the central nervous system. C165258 Cellosaurus Disease Terminology C60487 Rat Osteosarcoma Rat Osteosarcoma C165258 Cellosaurus Disease Terminology C129858 Rat Ovarian Adenocarcinoma Rat Ovarian Adenocarcinoma Adenocarcinoma that arises from the ovary of a rat. C165258 Cellosaurus Disease Terminology C132194 Rat Pituitary Gland Neoplasm Rat Pituitary Gland Neoplasm Rat Pituitary Gland Tumor A benign or malignant neoplasm that affects the pituitary gland of a rat. C165258 Cellosaurus Disease Terminology C125416 Rat Plasma Cell Myeloma Rat Plasma Cell Myeloma Plasma cell myeloma occurring in a rat. C165258 Cellosaurus Disease Terminology C60504 Rat Rhabdomyosarcoma Rat Rhabdomyosarcoma C165258 Cellosaurus Disease Terminology C60505 Rat Sarcoma Rat Sarcoma C165258 Cellosaurus Disease Terminology C60511 Rat Squamous Cell Carcinoma Rat Squamous Cell Carcinoma C165258 Cellosaurus Disease Terminology C179056 Rat Thyroid Neoplasm Rat Thyroid Neoplasm A thyroid neoplasm occurring in a rat. C165258 Cellosaurus Disease Terminology C60691 Rat Urinary System Neoplasms Rat Urinary System Neoplasms C165258 Cellosaurus Disease Terminology C60530 Rat Yolk Sac Carcinoma Rat Yolk Sac Carcinoma C165258 Cellosaurus Disease Terminology C134999 Rattlesnake Fibroma Rattlesnake Fibroma A fibroma that occurs in a rattlesnake. C165258 Cellosaurus Disease Terminology C9383 Rectal Adenocarcinoma Rectal Adenocarcinoma Adenocarcinoma of Rectum || Adenocarcinoma of the Rectum "An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." C165258 Cellosaurus Disease Terminology C4640 Rectal Melanoma Rectal Melanoma Malignant Melanoma of Rectum || Malignant Melanoma of the Rectum || Melanoma of Rectum || Melanoma of the Rectum || Rectal Malignant Melanoma An aggressive malignant melanocytic neoplasm that arises from the rectum. C165258 Cellosaurus Disease Terminology C7973 Rectal Mucinous Adenocarcinoma Rectal Mucinous Adenocarcinoma Colloid Adenocarcinoma of Rectum || Colloid Adenocarcinoma of the Rectum || Colloidal Adenocarcinoma of Rectum || Colloidal Adenocarcinoma of the Rectum || Mucinous Adenocarcinoma of Rectum || Mucinous Adenocarcinoma of the Rectum || Rectal Colloid Adenocarcinoma || Rectal Colloidal Adenocarcinoma An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. C165258 Cellosaurus Disease Terminology C135213 Rectal Neuroendocrine Tumor Rectal Neuroendocrine Tumor "A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the rectum." C165258 Cellosaurus Disease Terminology C60639 Rectal Small Cell Carcinoma Rectal Small Cell Neuroendocrine Carcinoma Rectal Small Cell Carcinoma "An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the rectum. It is characterized by the presence of malignant small cells." C165258 Cellosaurus Disease Terminology C43584 Rectosigmoid Adenocarcinoma Rectosigmoid Adenocarcinoma "An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." C165258 Cellosaurus Disease Terminology C7421 Rectosigmoid Carcinoma Rectosigmoid Carcinoma Rectosigmoid Cancer A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area. C165258 Cellosaurus Disease Terminology C7899 Recurrent Bladder Carcinoma Recurrent Bladder Carcinoma "Bladder Cancer, Recurrent || Bladder Carcinoma Recurrent || Recurrent Bladder Cancer || Recurrent Cancer of Bladder || Recurrent Cancer of Urinary Bladder || Recurrent Cancer of the Bladder || Recurrent Cancer of the Urinary Bladder || Recurrent Urinary Bladder Cancer || Relapsed Bladder Cancer || Relapsed Cancer of Bladder || Relapsed Cancer of Urinary Bladder || Relapsed Cancer of the Bladder || Relapsed Cancer of the Urinary Bladder || Relapsed Urinary Bladder Cancer" The reemergence of bladder carcinoma after a period of remission. C165258 Cellosaurus Disease Terminology C8795 Recurrent Undifferentiated Pleomorphic Sarcoma Recurrent Undifferentiated Pleomorphic Sarcoma "Recurrent Unclassified Pleomorphic Sarcoma || Recurrent Unclassified Pleomorphic Sarcoma (Formerly Recurrent ""MFH"") || Recurrent Unclassified Pleomorphic Sarcoma (Formerly Recurrent ""Malignant Fibrous Histiocytoma"")" Reemergence of undifferentiated pleomorphic sarcoma after a period of remission. C165258 Cellosaurus Disease Terminology C2872 Refractory Anemia Refractory Anemia Aregenerative Anemia "A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C85043 Refsum Disease Refsum Disease "A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy." C165258 Cellosaurus Disease Terminology C157268 Relapsing Polychondritis Relapsing Polychondritis A rare autoimmune disorder characterized by recurrent episodes of inflammation of cartilage and other connective tissues. C165258 Cellosaurus Disease Terminology C99041 Renal Agenesis Renal Agenesis A congenital abnormality characterized by the absence of one or both kidneys. C165258 Cellosaurus Disease Terminology C9385 Renal Cell Carcinoma Renal Cell Carcinoma "Adenocarcinoma of Kidney || Adenocarcinoma of the Kidney || Kidney Adenocarcinoma || Renal Cell Adenocarcinoma || Renal Cell Cancer || Renal Cell Carcinoma, Stage Unspecified" "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy." C165258 Cellosaurus Disease Terminology C27891 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions TFE3-Rearranged Renal Cell Carcinoma Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions || Xp11 Translocation Renal Cell Carcinoma || Xp11.2 Translocation-Related Renal Cell Carcinoma "A group of renal cell carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns." C165258 Cellosaurus Disease Terminology C123018 Renal Cysts and Diabetes Syndrome Renal Cysts and Diabetes Syndrome "HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease || Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes || Maturity Onset Diabetes of the Young, Type 5" "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes." C165258 Cellosaurus Disease Terminology C6142 Renal Pelvis Carcinoma Renal Pelvis Carcinoma Carcinoma of Kidney Pelvis || Carcinoma of Renal Pelvis || Carcinoma of the Kidney Pelvis || Carcinoma of the Renal Pelvis || Kidney Pelvis Carcinoma A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. C165258 Cellosaurus Disease Terminology C7732 Renal Pelvis Squamous Cell Carcinoma Renal Pelvis Squamous Cell Carcinoma Epidermoid Carcinoma of Kidney Pelvis || Epidermoid Carcinoma of Renal Pelvis || Epidermoid Carcinoma of the Kidney Pelvis || Epidermoid Carcinoma of the Renal Pelvis || Kidney Pelvis Epidermoid Carcinoma || Kidney Pelvis Squamous Cell Carcinoma || Renal Pelvis Epidermoid Carcinoma || Squamous Cell Carcinoma of Kidney Pelvis || Squamous Cell Carcinoma of Renal Pelvis || Squamous Cell Carcinoma of the Kidney Pelvis || Squamous Cell Carcinoma of the Renal Pelvis Squamous cell carcinoma that affects the renal pelvis. C165258 Cellosaurus Disease Terminology C7355 Renal Pelvis Urothelial Carcinoma Renal Pelvis Urothelial Carcinoma Renal Pelvis Transitional Cell Carcinoma || Transitional Cell Carcinoma of Renal Pelvis || Transitional Cell Carcinoma of the Renal Pelvis || Urothelial Cell Carcinoma of Renal Pelvis || Urothelial Cell Carcinoma of the Renal Pelvis A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. C165258 Cellosaurus Disease Terminology C165533 Renpenning Syndrome Renpenning Syndrome "Mental Retardation, X-Linked, Renpenning Type" "An X-linked recessive disorder caused by mutation(s) in the PQBP1 gene, encoding polyglutamine-binding protein 1. It is characterized by moderate to severe intellectual disability, developmental delay and characteristic dysmorphic features, which may include short stature, microcephaly, and a narrow face." C165258 Cellosaurus Disease Terminology C62798 Restrictive Cardiomyopathy Restrictive Cardiomyopathy "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." C165258 Cellosaurus Disease Terminology C168587 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities RDGCA "An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities." C165258 Cellosaurus Disease Terminology C164155 Retinal Dystrophy with or without Extraocular Anomalies Retinal Dystrophy with or without Extraocular Anomalies "An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present." C165258 Cellosaurus Disease Terminology C85045 Retinitis Pigmentosa Retinitis Pigmentosa "A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness." C165258 Cellosaurus Disease Terminology C7541 Retinoblastoma Retinoblastoma "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." C165258 Cellosaurus Disease Terminology C8172 Retromolar Trigone Squamous Cell Carcinoma Retromolar Trigone Squamous Cell Carcinoma Squamous Cell Carcinoma of Retromolar Trigone || Squamous Cell Carcinoma of the Retromolar Trigone "A squamous cell carcinoma that arises from the retromolar trigone. Pain, often radiating to the ear, is the presenting symptom. The prognosis is poor." C165258 Cellosaurus Disease Terminology C27904 Retroperitoneal Leiomyosarcoma Retroperitoneal Leiomyosarcoma "An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells." C165258 Cellosaurus Disease Terminology C75488 Rett Syndrome Rett Syndrome "A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances." C165258 Cellosaurus Disease Terminology C176903 "Rett Syndrome, Congenital Variant" "Rett Syndrome, Congenital Variant" "An autosomal dominant condition caused by mutation(s) in the FOXG1 gene, encoding forkhead box protein G1. It is the most severe form of Rett syndrome, and typically manifests within the first three months of life." C165258 Cellosaurus Disease Terminology C34983 Reye Syndrome Reye Syndrome Reye's Syndrome "An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use." C165258 Cellosaurus Disease Terminology C3808 Rhabdoid Tumor Rhabdoid Tumor "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." C165258 Cellosaurus Disease Terminology C8715 Rhabdoid Tumor of the Kidney Rhabdoid Tumor of the Kidney Kidney Rhabdoid Tumor || Malignant Rhabdoid Tumor of Kidney || Malignant Rhabdoid Tumor of the Kidney || Renal Rhabdoid Neoplasm || Renal Rhabdoid Tumor || Rhabdoid Neoplasm of Kidney || Rhabdoid Neoplasm of the Kidney || Rhabdoid Tumor of the Kidney (RTK) || Rhabdoid Tumour of Kidney || Rhabdoid Tumour of the Kidney "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." C165258 Cellosaurus Disease Terminology C3359 Rhabdomyosarcoma Rhabdomyosarcoma A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomic sites. C165258 Cellosaurus Disease Terminology C134783 Rhesus Monkey Lymphoma Rhesus Monkey Lymphoma Lymphoma that occurs in a rhesus monkey. C165258 Cellosaurus Disease Terminology C134784 Rhesus Monkey Mammary Tumor Rhesus Monkey Mammary Tumor A mammary neoplasm that occurs in a rhesus monkey. C165258 Cellosaurus Disease Terminology C85047 Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata "An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation." C165258 Cellosaurus Disease Terminology C131001 Rieger Syndrome Rieger Syndrome "A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius." C165258 Cellosaurus Disease Terminology C126691 Rigid Spine Muscular Dystrophy 1 Rigid Spine Muscular Dystrophy 1 RSMD1 || RSS || Rigid Spine Syndrome "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage." C165258 Cellosaurus Disease Terminology C179703 Ring Chromosome 13 Syndrome Ring Chromosome 13 Syndrome "A rare condition in which the two arms of chromosome 13 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features." C165258 Cellosaurus Disease Terminology C185638 Ring Chromosome 14 Syndrome Ring Chromosome 14 Syndrome "A rare condition in which the two arms of chromosome 14 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features." C165258 Cellosaurus Disease Terminology C175706 Ring Chromosome 18 Syndrome Ring Chromosome 18 Syndrome "A rare condition in which the two arms of chromosome 18 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features." C165258 Cellosaurus Disease Terminology C169001 Ring Chromosome 20 Syndrome Ring Chromosome 20 Syndrome A rare condition in which the two arms of chromosome 20 are fused resulting in a ring chromosome. It is characterized by recurrent seizures with an onset in childhood. Additional features my include microcephaly and short stature. C165258 Cellosaurus Disease Terminology C186278 Ring Chromosome 21 Syndrome Ring Chromosome 21 Syndrome "A rare condition in which the two arms of chromosome 21 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features." C165258 Cellosaurus Disease Terminology C179702 Ring Chromosome 22 Syndrome Ring Chromosome 22 Syndrome "A rare condition in which the two arms of chromosome 22 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features." C165258 Cellosaurus Disease Terminology C175705 Ring Chromosome 8 Syndrome Ring Chromosome 8 Syndrome "A rare condition in which the two arms of chromosome 8 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features." C165258 Cellosaurus Disease Terminology C148325 Rippling Muscle Disease 2 Rippling Muscle Disease 2 "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype." C165258 Cellosaurus Disease Terminology C126326 Roberts Syndrome Roberts Syndrome "A rare, autosomal recessive inherited syndrome caused by mutations in the ESCO2 gene. It is characterized by limb and facial abnormalities and slow growth. Intellectual impairment occurs in approximately half of the affected individuals." C165258 Cellosaurus Disease Terminology C4681 Roberts-SC Phocomelia Syndrome Roberts-SC Phocomelia Syndrome Hypomelia Hypotrichosis Facial Hemangioma Syndrome || Phocomelia-Pseudothalidomide Syndrome || Pseudothalidomide Syndrome || SC Phocomelia Syndrome A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. It is considered to be a mild variant of Roberts syndrome. C165258 Cellosaurus Disease Terminology C188150 Robertsonian Translocation Down Syndrome Robertsonian Translocation Down Syndrome "Down syndrome caused by translocation of the long arm of chromosome 21, resulting in trisomy 21." C165258 Cellosaurus Disease Terminology C3335 Rothmund-Thomson Syndrome Rothmund-Thomson Syndrome Rothmund Thomson Syndrome "An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma." C165258 Cellosaurus Disease Terminology C75466 Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome "A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders." C165258 Cellosaurus Disease Terminology C153290 Rubinstein-Taybi Syndrome Type 1 Rubinstein-Taybi Syndrome Type 1 "The most common form of Rubinstein-Taybi syndrome, caused by a mutation in the CREB binding protein (CREBBP) gene." C165258 Cellosaurus Disease Terminology C153291 Rubinstein-Taybi Syndrome Type 2 Rubinstein-Taybi Syndrome Type 2 "Rubinstein-Taybi syndrome caused by a mutation in the EP300 gene on chromosome 22q13, which presents with a mild phenotype associated with less severe facial dysmorphism and better cognitive function." C165258 Cellosaurus Disease Terminology C85068 Russell-Silver Syndrome Russell-Silver Syndrome Russell-Silver Dwarfism || Silver-Russell Dwarfism || Silver-Russell Syndrome "A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present." C165258 Cellosaurus Disease Terminology C172099 STAT1-Associated Immunodeficiency STAT1-Associated Immunodeficiency Familial Candidiasis 7 || Immunodeficiency 31C "An autosomal dominant immune dysregulation condition characterized by chronic mucocutaneous candidiasis, as well as other variable clinical features. It is caused by gain-of-function mutation(s) in the STAT1 gene, encoding signal transducer and activator of transcription 1-alpha/beta." C165258 Cellosaurus Disease Terminology C177547 "STING-Associated Vasculopathy, Infantile-Onset" "STING-Associated Vasculopathy, Infantile-Onset" "An autosomal dominant condition caused by mutation(s) in the STING1 gene, encoding stimulator of interferon genes protein. It is characterized by an autoinflammatory vasculopathy resulting in severe skin lesions." C165258 Cellosaurus Disease Terminology C129927 Sacral Chordoma Sacral Chordoma A chordoma that arises from the sacral area. C165258 Cellosaurus Disease Terminology C99055 Sacrococcygeal Teratoma Sacrococcygeal Teratoma Pre-Sacral Teratoma || Presacral Teratoma A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. C165258 Cellosaurus Disease Terminology C5904 Salivary Duct Carcinoma Salivary Duct Carcinoma Carcinoma of Salivary Duct || Carcinoma of the Salivary Duct || High Grade Salivary Duct Carcinoma "An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites." C165258 Cellosaurus Disease Terminology C8026 Salivary Gland Adenoid Cystic Carcinoma Salivary Gland Adenoid Cystic Carcinoma Adenoid Cystic Carcinoma of Salivary Gland || Adenoid Cystic Carcinoma of the Salivary Gland "An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver." C165258 Cellosaurus Disease Terminology C40410 Salivary Gland Carcinoma ex Pleomorphic Adenoma Salivary Gland Carcinoma ex Pleomorphic Adenoma "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." C165258 Cellosaurus Disease Terminology C35701 Salivary Gland Epithelial-Myoepithelial Carcinoma Salivary Gland Epithelial-Myoepithelial Carcinoma Salivary Gland Epithelial Myoepithelial Carcinoma "A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells." C165258 Cellosaurus Disease Terminology C5908 Salivary Gland Mucoepidermoid Carcinoma Salivary Gland Mucoepidermoid Carcinoma Mucoepidermoid Carcinoma of Salivary Gland || Mucoepidermoid Carcinoma of the Salivary Gland "A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of squamous cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." C165258 Cellosaurus Disease Terminology C5978 Salivary Gland Myoepithelioma Salivary Gland Myoepithelioma Benign Myoepithelioma of the Salivary Gland || Benign Salivary Gland Myoepithelioma "A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter." C165258 Cellosaurus Disease Terminology C40409 Salivary Gland Pleomorphic Adenoma Salivary Gland Pleomorphic Adenoma Benign Mixed Salivary Gland Neoplasm || Benign Mixed Salivary Gland Tumor || Benign Mixed Salivary Neoplasm || Benign Mixed Salivary Tumor "A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma." C165258 Cellosaurus Disease Terminology C85052 Sandhoff Disease Sandhoff Disease "An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangiosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly." C165258 Cellosaurus Disease Terminology C9118 Sarcoma Sarcoma Sarcoma of Soft Tissue and Bone || Sarcoma of the Soft Tissue and Bone "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma." C165258 Cellosaurus Disease Terminology C21840 Sarcomas of the Mouse Skin and Subcutis Sarcomas of the Mouse Skin and Subcutis C165258 Cellosaurus Disease Terminology C43627 Sarcomatoid Hepatocellular Carcinoma Sarcomatoid Hepatocellular Carcinoma Sarcomatous Hepatocellular Carcinoma A morphologic variant of hepatocellular carcinoma characterized by the presence of malignant spindle cells or atypical giant cells. C165258 Cellosaurus Disease Terminology C27893 Sarcomatoid Renal Cell Carcinoma Sarcomatoid Renal Cell Carcinoma A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. C165258 Cellosaurus Disease Terminology C61265 Scheie Syndrome Scheie Syndrome "An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism." C165258 Cellosaurus Disease Terminology C135087 Schimke Immunoosseous Dysplasia Schimke Immunoosseous Dysplasia "An autosomal recessive condition caused by mutation(s) in the SMARCAL1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1. It is characterized by short stature, intrauterine growth restriction, microdontia, depressed nasal bridge, skeletal dysplasia, immune complex nephritis and immune deficiency." C165258 Cellosaurus Disease Terminology C129308 Schinzel-Giedion Midface-Retraction Syndrome Schinzel-Giedion Midface-Retraction Syndrome "An autosomal dominant disorder associated with mutation(s) in the SETBP1 gene, encoding SET-binding protein. It is characterized by unique facial features, including midface hypoplasia, skeletal abnormalities, and mental retardation." C165258 Cellosaurus Disease Terminology C3362 Schizophrenia Schizophrenia "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." C165258 Cellosaurus Disease Terminology C150555 Schuurs-Hoeijmakers Syndrome Schuurs-Hoeijmakers Syndrome "An autosomal dominant condition caused by mutation(s) in the PACS1 gene, encoding phosphofurin acidic cluster sorting protein 1. It is characterized by intellectual developmental delay, craniofacial abnormalities, as well as other variable congenital abnormalities." C165258 Cellosaurus Disease Terminology C3269 Schwannoma Schwannoma Benign Neurilemmoma || Benign Schwannoma || Neurilemmoma || Schwannoma (WHO Grade I) "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported." C165258 Cellosaurus Disease Terminology C188213 Schwannoma of the Seventh Cranial Nerve Schwannoma of the Seventh Cranial Nerve Facial Nerve Neurilemmoma || Facial Nerve Schwannoma || Neurilemmoma of the Seventh Cranial Nerve || Schwannoma of the Facial Nerve "A benign, usually encapsulated slow growing tumor composed of Schwann cells affecting the seventh cranial nerve." C165258 Cellosaurus Disease Terminology C6557 Schwannomatosis Schwannomatosis Neurilemmomatosis || Neurinomatosis Rare genetic disorder caused by mutations in the SMARCB1 and LZTR1 genes. It is characterized by the presence of multiple Schwannomas. C165258 Cellosaurus Disease Terminology C35008 Schwartz-Jampel Syndrome Schwartz-Jampel Syndrome Myotonic Chondrodystrophy "A classification for rare genetic syndromes with an autosomal recessive pattern of inheritance. Clinical features include muscle stiffness and weakness, facial and skeletal abnormalities with joint contractures and short stature. Two types have been characterized: Schwartz-Jampel Syndrome type I (SJSI) and Schwartz-Jampel Syndrome type II (SJSII). SJSI is associated with a mutation of the HSPG2 gene on chromosome 1 and has been further characterized into two subtypes IA and IB. SJSIA is more common, less severe in presentation and is seen later in childhood than SJSIB. For both SJSI subtypes, prognosis is favorable as the main feature of muscle stiffness is slowly progressive, if at all, and is compatible with a normal life span. SJSII is apparent at birth, shares the same clinical profile and mutation in the LIFR gene noted in Stuve-Wiedemann Syndrome and is thus presumed to be the same disorder. In contrast to SJSI, its presentation is more severe and likelihood of survivability is much lower." C165258 Cellosaurus Disease Terminology C85061 Scleromyxedema Scleromyxedema "A rare chronic and progressive skin disorder characterized by mucin deposition in the skin, resulting in the thickening and hardening of the skin, predominantly in the face, fingers, and extremities." C165258 Cellosaurus Disease Terminology C85062 Sea-Blue Histiocyte Syndrome Sea-Blue Histiocyte Syndrome "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." C165258 Cellosaurus Disease Terminology C134963 Seal Lymphoma Seal Lymphoma A lymphoma that occurs in a seal. C165258 Cellosaurus Disease Terminology C135000 Seal Lymphosarcoma Seal Lymphosarcoma Lymphosarcoma that occurs in a seal. C165258 Cellosaurus Disease Terminology C125488 Seckel Syndrome Seckel Syndrome Bird-Headed Dwarfism || Microcephalic Primordial Dwarfism || Nanocephalic Dwarfism || Seckel-Type Dwarfism "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a ""bird-headed"" facial appearance." C165258 Cellosaurus Disease Terminology C25765 Secondary Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Secondary AGL || Secondary AML || Secondary Acute Myeloblastic Leukemia || Secondary Acute Myelogenous Leukemia "An acute myeloid leukemia arising from prior myelodysplastic syndrome, myeloproliferative neoplasm, or myelodysplastic/myeloproliferative neoplasm, or as a result of previous exposure to alkylating agents or topoisomerase II inhibitors." C165258 Cellosaurus Disease Terminology C27482 Secondary Chondrosarcoma Secondary Chondrosarcoma A chondrosarcoma that arises either in a pre-existing enchondroma or within the cartilaginous cap of a pre-existing osteochondroma. C165258 Cellosaurus Disease Terminology C27701 Secondary Myelofibrosis Secondary Myelofibrosis Myelofibrosis that develops in patients with a history of hematologic malignancies or toxic injury to the bone marrow. C165258 Cellosaurus Disease Terminology C3020 Seizure Disorder Seizure Disorder Epilepsy "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." C165258 Cellosaurus Disease Terminology C85073 Selective Antibody Deficiency with Normal Immunoglobulins Selective Antibody Deficiency with Normal Immunoglobulins A rare syndrome characterized by deficiency of specific antibodies to polysaccharide antigens while the specific antibodies to protein antigens are normal. C165258 Cellosaurus Disease Terminology C26965 Selective IgM Immunodeficiency Selective IgM Immunodeficiency "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class M (IgM). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgM from progenitor B cells without any corresponding decreases in the other isotypes. There is a widely variable clinical course. Some affected individuals may be asymptomatic while others show increased susceptibility to infection, malignancy and autoimmune disorders." C165258 Cellosaurus Disease Terminology C168588 Senior-Loken Syndrome Senior-Loken Syndrome SLSN A genetically heterogenous condition usually inherited in an autosomal recessive pattern. It is characterized by nephronophthisis and retinitis pigmentosa. C165258 Cellosaurus Disease Terminology C168988 Sertoli Cell-Only Syndrome Sertoli Cell-Only Syndrome Del Castillo Syndrome A condition in which the seminiferous tubules are lined only by Sertoli cells. C165258 Cellosaurus Disease Terminology C61229 Severe Aplastic Anemia Severe Aplastic Anemia Life-threatening anemia associated with a high risk of infection or bleeding. C165258 Cellosaurus Disease Terminology C3472 Severe Combined Immunodeficiency Severe Combined Immunodeficiency Severe Combined Immune Deficiency "X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004" C165258 Cellosaurus Disease Terminology C162695 Severe Combined Immunodeficiency due to NHEJ1 Deficiency Severe Combined Immunodeficiency due to NHEJ1 Deficiency "An autosomal recessive condition caused by mutation(s) in the NHEJ1 gene, encoding non-homologous end-joining factor 1. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Microcephaly, growth retardation, and sensitivity to ionizing radiation are also characteristic of this disease." C165258 Cellosaurus Disease Terminology C162694 "Severe Combined Immunodeficiency, Athabascan Type" "Severe Combined Immunodeficiency, Athabascan Type" "Artemis-Deficient SCID || Artemis-Deficient Severe Combined Immunodeficiency || Severe Combined Immunodeficiency, Athabaskan Type" "An autosomal recessive condition caused by mutation(s) in the DCLRE1C gene, encoding protein artemis. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Sensitivity to ionizing radiation and a high incidence of occurrence amongst the Athabascan Indians are also characteristic of this disease." C165258 Cellosaurus Disease Terminology C166153 "Severe Congenital Neutropenia Type 3, Autosomal Recessive" "Severe Congenital Neutropenia Type 3, Autosomal Recessive" "Autosomal Recessive SCN, Type 3 || Kostmann Syndrome || Neutropenia, Severe Congenital, 3, Autosomal Recessive" Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by HCLS1-associated protein X-1 (HAX1) mutations. C165258 Cellosaurus Disease Terminology C132293 Severe Neonatal Encephalopathy Due to MECP2 Mutations Severe Neonatal Encephalopathy Due to MECP2 Mutations "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." C165258 Cellosaurus Disease Terminology C103186 Sexual Differentiation Disorder Sexual Differentiation Disorder A congenital disorder characterized by abnormalities in the development of the sexual characteristics. C165258 Cellosaurus Disease Terminology C3366 Sezary Syndrome Sezary Syndrome Sezary's Disease || Sézary Syndrome "A generalized peripheral (mature) T-cell neoplasm characterized by the presence of erythroderma, lymphadenopathy, and neoplastic, cerebriform T-lymphocytes in the blood. Sezary syndrome is an aggressive disease. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C147532 Sheep Lung Adenocarcinoma Sheep Lung Adenocarcinoma Adenocarcinoma arising from the lung of a sheep. C165258 Cellosaurus Disease Terminology C71060 Short QT Syndrome Short QT Syndrome Ventricular tachyarrhythmias occurring in association with short QT syndrome. C165258 Cellosaurus Disease Terminology C163755 Short-Rib Thoracic Dysplasia 3 with or without Polydactyly Short-Rib Thoracic Dysplasia 3 with or without Polydactyly "An autosomal recessive type of short rib-polydactyly syndrome caused by mutation(s) in the DYNC2H1 gene, encoding cytoplasmic dynein 2 heavy chain 1. Additionally, there is evidence that it may be caused by digenic biallelic mutation in DYNC2H1 and in NEK1 (the latter encoding serine/threonine-protein kinase Nek1). It is characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present." C165258 Cellosaurus Disease Terminology C122654 Short-Rib Thoracic Dysplasia 6 with or without Polydactyly Short-Rib Thoracic Dysplasia 6 with or without Polydactyly Majewski Syndrome || Polydactyly with Neonatal Chondrodystrophy Type II || Short Rib-Polydactyly Syndrome Type II "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." C165258 Cellosaurus Disease Terminology C124840 Shprintzen-Goldberg Craniosynostosis Syndrome Shprintzen-Goldberg Craniosynostosis Syndrome "A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and distinctive facial features, including a long, narrow head, hypertelorism, exophthalmos, downslanting palpebral fissures, a high, narrow palate, micrognathia, and low-set ears. The bodies of affected individuals resemble those of people with Marfan syndrome." C165258 Cellosaurus Disease Terminology C61235 Shwachman-Diamond Syndrome Shwachman-Diamond Syndrome Shwachman Syndrome || Shwachman-Bodian-Diamond Syndrome || Shwachman-Diamond-Oski Syndrome "A rare, autosomal recessive disorder characterized by exocrine pancreas insufficiency, skeletal abnormalities, bone marrow dysfunction, and an increased incidence of leukemia." C165258 Cellosaurus Disease Terminology C85067 Sialic Acid Storage Disease Sialic Acid Storage Disease Salla Disease "A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. It primarily affects the nervous system. Signs and symptoms include developmental delay, intellectual disability, hypotonia, failure to thrive, seizures, and ataxia." C165258 Cellosaurus Disease Terminology C62244 Sick Sinus Syndrome Sick Sinus Syndrome "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction." C165258 Cellosaurus Disease Terminology C34383 Sickle Cell Disease Sickle Cell Disease Sickle Cell Anemia A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. C165258 Cellosaurus Disease Terminology C36078 Sideroblastic Anemia Sideroblastic Anemia Anemia characterized by the production of ringed sideroblasts instead of healthy red blood cells. C165258 Cellosaurus Disease Terminology C118787 Simpson Golabi Behmel Syndrome Type 1 Simpson Golabi Behmel Syndrome Type 1 SGBS1 "A rare, X-linked inherited syndrome caused by mutations in the GPC3 and GPC4 genes. It is characterized by pre-and postnatal overgrowth, coarse facial features, macrocephaly, macroglossia, congenital heart defects, and intellectual disability." C165258 Cellosaurus Disease Terminology C116316 "Sinonasal Adenocarcinoma, Intestinal-Type" "Sinonasal Adenocarcinoma, Intestinal-Type" "Enteric-Type Sinonasal Adenocarcinoma || Intestinal-Type Sinonasal Adenocarcinoma || Nasal Cavity and Paranasal Sinus Adenocarcinoma, Intestinal-Type" An adenocarcinoma that arises from the nasal cavity and paranasal sinuses. Histologically it resembles intestinal carcinoma or adenoma. It is associated with lengthy occupational exposure to dust. C165258 Cellosaurus Disease Terminology C6871 Sinonasal Inverted Papilloma Sinonasal Inverted Papilloma Inverted Schneiderian Papilloma || Sinonasal Inverted Schneiderian Papilloma "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity or paranasal sinuses. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas." C165258 Cellosaurus Disease Terminology C116318 Sinonasal Small Cell Carcinoma Sinonasal Small Cell Neuroendocrine Carcinoma Nasal Cavity and Paranasal Sinus Small Cell Carcinoma || Nasal Cavity and Paranasal Sinus Small Cell Neuroendocrine Carcinoma || Sinonasal Small Cell Carcinoma A very rare small cell neuroendocrine carcinoma that arises from the nose and paranasal sinuses. C165258 Cellosaurus Disease Terminology C68611 Sinonasal Squamous Cell Carcinoma Sinonasal Squamous Cell Carcinoma Nasal Cavity and Paranasal Sinus Squamous Cell Carcinoma "A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group." C165258 Cellosaurus Disease Terminology C54294 Sinonasal Undifferentiated Carcinoma Sinonasal Undifferentiated Carcinoma Sinonasal Anaplastic Carcinoma "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." C165258 Cellosaurus Disease Terminology C125694 Sitosterolemia Sitosterolemia "An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas." C165258 Cellosaurus Disease Terminology C26883 Sjogren Syndrome Sjogren Syndrome Sjogren's Syndrome || Sjögren Syndrome "An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus." C165258 Cellosaurus Disease Terminology C85070 Sjogren-Larsson Syndrome Sjogren-Larsson Syndrome Fatty Aldehyde Dehydrogenase Deficiency "An autosomal recessive condition caused by mutation(s) in the ALDH3A2 gene, encoding fatty aldehyde dehydrogenase. It is a characterized by dry and scaly skin, neurological dysfunction and mild to moderate intellectual disability." C165258 Cellosaurus Disease Terminology C4489 Skin Angiosarcoma Skin Angiosarcoma Angiosarcoma of Skin || Angiosarcoma of the Skin || Hemangiosarcoma of Skin || Hemangiosarcoma of the Skin || Skin Hemangiosarcoma A malignant vascular neoplasm arising from the skin. C165258 Cellosaurus Disease Terminology C2921 Skin Basal Cell Carcinoma Skin Basal Cell Carcinoma Basal Cell Cancer || Basal Cell Carcinoma || Basal Cell Carcinoma of Skin || Basal Cell Carcinoma of the Skin || Basal Cell Epithelioma || Basal Cell Skin Carcinoma "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas." C165258 Cellosaurus Disease Terminology C5585 Skin Sarcoma Skin Sarcoma Cutaneous Sarcoma || Sarcoma of Skin || Sarcoma of the Skin "A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma." C165258 Cellosaurus Disease Terminology C4819 Skin Squamous Cell Carcinoma Skin Squamous Cell Carcinoma Cutaneous Squamous Cell Carcinoma || Epidermoid Carcinoma of Skin || Epidermoid Carcinoma of the Skin || Epidermoid Skin Carcinoma || Squamous Cell Carcinoma of Skin || Squamous Cell Carcinoma of the Skin || Squamous Cell Skin Carcinoma A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated. C165258 Cellosaurus Disease Terminology C84903 Sly Syndrome Sly Syndrome Beta-Glucuronidase Deficiency || Mucopolysaccharidosis Type VII "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta-glucuronidase. It is characterized by hepatosplenomegaly, skeletal deformities, enlarged head, and mental retardation." C165258 Cellosaurus Disease Terminology C4023 Small Cell Osteosarcoma Small Cell Osteosarcoma Small Cell Osteogenic Sarcoma An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable. C165258 Cellosaurus Disease Terminology C125389 Small Fiber Neuropathy Small Fiber Neuropathy Painful Peripheral Neuropathy Small Nerve Fiber Neuropathy "Neuropathy caused by damage to the small myelinated (A-delta) fibers or unmyelinated C fibers in the peripheral nerves. It manifests with burning pain, shooting pain, allodynia, and hyperesthesia." C165258 Cellosaurus Disease Terminology C7888 Small Intestinal Adenocarcinoma Small Intestinal Adenocarcinoma Adenocarcinoma of Small Bowel || Adenocarcinoma of Small Intestine || Adenocarcinoma of the Small Bowel || Adenocarcinoma of the Small Intestine || Non-Ampullary Adenocarcinoma || Small Bowel Adenocarcinoma An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. C165258 Cellosaurus Disease Terminology C7724 Small Intestinal Carcinoma Small Intestinal Carcinoma Cancer of Small Bowel || Cancer of the Small Bowel || Carcinoma of Small Bowel || Carcinoma of Small Intestine || Carcinoma of the Small Bowel || Carcinoma of the Small Intestine || Small Bowel Cancer || Small Bowel Carcinoma || Small Intestine Cancer "A carcinoma arising from the small intestine. The vast majority are adenocarcinomas. The remaining cases are adenosquamous, squamous, or undifferentiated carcinomas." C165258 Cellosaurus Disease Terminology C7540 Small Lymphocytic Lymphoma Small Lymphocytic Lymphoma B-Cell Small Lymphocytic Lymphoma || Small B-Cell Lymphocytic Lymphoma "A non-Hodgkin lymphoma composed of monomorphic small, round B-lymphocytes in the lymph nodes. When the lymphoid process predominantly involves the bone marrow and the peripheral blood it is called chronic lymphocytic leukemia. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C85071 Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome "A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present." C165258 Cellosaurus Disease Terminology C75469 Smith-Magenis Syndrome Smith-Magenis Syndrome Chromosome 17p11.2 Deletion Syndrome "A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums." C165258 Cellosaurus Disease Terminology C6605 Soft Tissue Fibrosarcoma Soft Tissue Fibrosarcoma Fibrosarcoma of Soft Tissue || Fibrosarcoma of the Soft Tissue A usually aggressive malignant neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. C165258 Cellosaurus Disease Terminology C9306 Soft Tissue Sarcoma Soft Tissue Sarcoma Connective Tissue Sarcoma || Sarcoma of Soft Tissue || Sarcoma of the Soft Tissue "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." C165258 Cellosaurus Disease Terminology C5394 Solitary Adult Fibroma Solitary Adult Fibroma Solitary Adult Cutaneous Fibroma || Solitary Adult Skin Fibroma A solitary benign neoplasm arising from the fibrous soft tissues. The tumor is characterized by the presence of spindle-shaped fibroblasts. C165258 Cellosaurus Disease Terminology C75019 Sotos Syndrome Sotos Syndrome "An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay." C165258 Cellosaurus Disease Terminology C148317 Spastic Paraplegia 11 Spastic Paraplegia 11 "Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum" "An autosomal recessive condition caused by mutation(s) in the SPG11 gene, encoding spatacsin. It is a complicated sub-type of hereditary spastic paraplegia that has varying neurologic manifestations in addition to spasticity." C165258 Cellosaurus Disease Terminology C170435 Spastic Paraplegia 30 Spastic Paraplegia 30 "An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A." C165258 Cellosaurus Disease Terminology C189921 Spastic Paraplegia 31 Spastic Paraplegia 31 "An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the REEP1 gene, encoding receptor expression-enhancing protein 1." C165258 Cellosaurus Disease Terminology C188989 Spastic Paraplegia 35 Spastic Paraplegia 35 "Fatty Acid Hydroxylase-Associated Neurodegeneration || Spastic Paraplegia 35, Autosomal Recessive, with or without Neurodegeneration" "An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the FA2H gene, encoding fatty acid 2-hydroxylase." C165258 Cellosaurus Disease Terminology C142893 Spastic Paraplegia 3A Spastic Paraplegia 3A Strumpell Disease "An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the ATL1 gene, encoding atlastin-1." C165258 Cellosaurus Disease Terminology C129981 Spastic Paraplegia 4 Spastic Paraplegia 4 "An autosomal dominant condition caused by mutation(s) in the SPAST gene, encoding spastin. It is characterized by progressive lower extremity spasticity and weakness." C165258 Cellosaurus Disease Terminology C164224 Spastic Paraplegia 47 Spastic Paraplegia 47 "An autosomal recessive sub-type of hereditary spastic paraplegia caused by mutation(s) in the AP4B1 gene, encoding AP-4 complex subunit beta-1. It is characterized by severe mental retardation and spasticity." C165258 Cellosaurus Disease Terminology C179863 Spastic Paraplegia 50 Spastic Paraplegia 50 "Cerebral Palsy, Spastic Quadriplegic 3" "An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the AP4M1 gene, encoding AP-4 complex subunit mu-1." C165258 Cellosaurus Disease Terminology C190870 Spastic Paraplegia 56 Spastic Paraplegia 56 Autosomal Recessive Spastic Paraplegia-56 with or without Pseudoxanthoma Elasticum "An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CYP2U1 gene, encoding cytochrome P450 2U1." C165258 Cellosaurus Disease Terminology C177250 Spastic Paraplegia 5A Spastic Paraplegia 5A "An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CYP7B1 gene, cytochrome P450 7B1." C165258 Cellosaurus Disease Terminology C181657 Spastic Paraplegia 7 Spastic Paraplegia 7 "Spastic Paraplegia 7, Autosomal Recessive" "An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the SPG7 gene, encoding paraplegin." C165258 Cellosaurus Disease Terminology C157150 Spastic Paraplegia 76 Spastic Paraplegia 76 "An autosomal recessive sub-type of hereditary spastic paraplegia caused by mutation(s) in the CAPN1 gene, encoding calpain-1 catalytic subunit." C165258 Cellosaurus Disease Terminology C101214 Spina Bifida Spina Bifida A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. C165258 Cellosaurus Disease Terminology C5156 Spinal Chordoma Spinal Chordoma Chordoma of Spinal Column || Chordoma of Spine || Chordoma of the Spinal Column || Spinal Chordomas || Spinal Column Chordoma A chordoma that arises from the spine. C165258 Cellosaurus Disease Terminology C5406 "Spinal Cord Embryonal Tumor, Not Otherwise Specified" "Spinal Cord Embryonal Tumor, Not Otherwise Specified" "Spinal Cord Embryonal Tumor, NOS" "A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord." C165258 Cellosaurus Disease Terminology C85075 Spinal Muscular Atrophy Spinal Muscular Atrophy "An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements." C165258 Cellosaurus Disease Terminology C156310 Spinal Muscular Atrophy Type 2 Spinal Muscular Atrophy Type 2 "An autosomal recessive condition caused by mutation(s) in the SMN1 gene, encoding survival motor neuron protein. It is characterized by onset between 3 and 15 months of age, and is intermediate in terms of severity between spinal muscular atrophy (SMA) type I and SMA type III." C165258 Cellosaurus Disease Terminology C118847 Spinal Muscular Atrophy Type 3 Spinal Muscular Atrophy Type 3 Juvenile Spinal Muscular Atrophy || Kugelberg-Welander Disease || Kugelberg-Welander Syndrome || Spinal Muscular Atrophy III "A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult." C165258 Cellosaurus Disease Terminology C85233 "Spinal and Bulbar Muscular Atrophy, X-linked 1" "Spinal and Bulbar Muscular Atrophy, X-linked 1" Kennedy Disease || SBMA || Spinal and Bulbar Muscular Atrophy "A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia." C165258 Cellosaurus Disease Terminology C27005 Spindle Cell Sarcoma Spindle Cell Sarcoma A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas. C165258 Cellosaurus Disease Terminology C4277 Spindle Cell Synovial Sarcoma Spindle Cell Synovial Sarcoma Synovial Sarcoma with Spindle Cell Components A synovial sarcoma characterized by the presence of a spindle cell component only. C165258 Cellosaurus Disease Terminology C121654 Spindle Cell/Sclerosing Rhabdomyosarcoma Spindle Cell/Sclerosing Rhabdomyosarcoma An uncommon variant of rhabdomyosarcoma with spindle cell or sclerosing morphology. It affects both children and adults and it is more common in males. C165258 Cellosaurus Disease Terminology C21810 Spindle-cell Squamous Cell Carcinoma of the Mouse Skin Spindle-cell Squamous Cell Carcinoma of the Mouse Skin C165258 Cellosaurus Disease Terminology C82341 Spinocerebellar Ataxia Spinocerebellar Ataxia Spinocerebellar Degeneration "An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements." C165258 Cellosaurus Disease Terminology C129982 Spinocerebellar Ataxia Type 1 Spinocerebellar Ataxia Type 1 "An autosomal dominant neurodegenerative disorder caused by mutations in the ATXN1 gene, encoding ataxin-1. It is characterized by progressive cerebellar ataxia, dysarthria and saccadic abnormalities." C165258 Cellosaurus Disease Terminology C154316 Spinocerebellar Ataxia Type 12 Spinocerebellar Ataxia Type 12 "An autosomal dominant sub-type of spinocerebellar ataxia caused by mutation(s) in the PPP2R2B gene, encoding serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform. It presents with characteristic action tremors in the upper limbs, followed by other movement abnormalities." C165258 Cellosaurus Disease Terminology C150250 Spinocerebellar Ataxia Type 16 Spinocerebellar Ataxia Type 16 "An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP." C165258 Cellosaurus Disease Terminology C179861 Spinocerebellar Ataxia Type 17 Spinocerebellar Ataxia Type 17 "An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the TBP gene, encoding TATA-box-binding protein." C165258 Cellosaurus Disease Terminology C163756 Spinocerebellar Ataxia Type 19/22 Spinocerebellar Ataxia Type 19/22 "An autosomal dominant form of spinocerebellar ataxia (SCA), caused by mutation(s) in the KCND3 gene, encoding potassium voltage-gated channel subfamily D member 3. SCA19 and SCA22 were initially described independently, but the molecular basis for both conditions is mutation(s) in the KCND3 gene." C165258 Cellosaurus Disease Terminology C148315 Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia Type 2 Olivopontocerebellar Atrophy 2 || Wadia-Swami Syndrome "An autosomal dominant condition caused by mutation(s) in the ATXN2 gene, encoding ataxin-2. Specifically, the mutation is an expanded CAG trinucleotide repeat in the gene. It is a progressive cerebellar ataxia associated supranuclear ophthalmoplegia, mild dementia and peripheral neuropathy." C165258 Cellosaurus Disease Terminology C84830 Spinocerebellar Ataxia Type 3 Spinocerebellar Ataxia Type 3 Machado-Joseph Disease "A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements." C165258 Cellosaurus Disease Terminology C176901 Spinocerebellar Ataxia Type 31 Spinocerebellar Ataxia Type 31 "An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the BEAN1 gene, encoding protein BEAN1." C165258 Cellosaurus Disease Terminology C148316 Spinocerebellar Ataxia Type 36 Spinocerebellar Ataxia Type 36 "An autosomal dominant condition caused by mutation(s) in the NOP56 gene, encoding nucleolar protein 56. It is characterized by slowly progressive adult-onset gait ataxia, associated with eye movement abnormalities, tongue fasciculations and variable upper motor neuron signs." C165258 Cellosaurus Disease Terminology C171269 Spinocerebellar Ataxia Type 42 Spinocerebellar Ataxia Type 42 "An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G." C165258 Cellosaurus Disease Terminology C142838 Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia Type 6 "An autosomal recessive spinocerebellar ataxia caused by an expanded CAG repeat in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is an almost pure cerebellar syndrome, with onset typically between the ages of 20 to 60." C165258 Cellosaurus Disease Terminology C126562 Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia Type 7 "An autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness." C165258 Cellosaurus Disease Terminology C165500 "Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2" "Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2" Ataxia with Oculomotor Apraxia Type 2 "An autosomal recessive condition caused by mutation(s) in the SETX gene, encoding probable helicase senataxin. It is characterized by juvenile onset progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased concentrations of serum alpha-fetoprotein. Oculomotor apraxia is common, but is not always present." C165258 Cellosaurus Disease Terminology C165497 Spitz Melanoma Spitz Melanoma Malignant Spitz Tumor || Spitzoid Melanoma A melanoma that shares histopathologic and clinical features with atypical Spitz nevus. C165258 Cellosaurus Disease Terminology C4663 Splenic Marginal Zone Lymphoma Splenic Marginal Zone Lymphoma Marginal Zone Lymphoma of Spleen || Marginal Zone Lymphoma of the Spleen || Splenic Lymphoma with Circulating Villous Lymphocytes || Splenic Marginal Zone B-Cell Lymphoma || Splenic Marginal Zone B-Cell Lymphoma with Villous Lymphocytes || Splenic Marginal Zone Lymphoma with Villous Lymphocytes "A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)" C165258 Cellosaurus Disease Terminology C125598 Spondylocostal Dysostosis Spondylocostal Dysostosis "A rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in the spine and ribs." C165258 Cellosaurus Disease Terminology C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 SEMDJL2 "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity." C165258 Cellosaurus Disease Terminology C129031 "Spondyloepimetaphyseal Dysplasia, Sponastrime Type" "Spondyloepimetaphyseal Dysplasia, Sponastrime Type" "Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation || Sponastrime Dysplasia" "A rare disorder characterized by severe short stature, lumbar lordosis, midface hypoplasia, micromelia, frontal bossing, epiphyseal and metaphyseal abnormalities. The inheritance is autosomal recessive." C165258 Cellosaurus Disease Terminology C135088 Spondyloperipheral Dysplasia Spondyloperipheral Dysplasia "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia." C165258 Cellosaurus Disease Terminology C165532 Spontaneous Coronary Artery Dissection Spontaneous Coronary Artery Dissection "The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period." C165258 Cellosaurus Disease Terminology C42596 Sporadic Retinoblastoma Sporadic Retinoblastoma A retinoblastoma that occurs in a patient without a family history of the disease. C165258 Cellosaurus Disease Terminology C2929 Squamous Cell Carcinoma Squamous Cell Carcinoma "Epidermoid Carcinoma || Epidermoid Cell Cancer || Malignant Epidermoid Cell Neoplasm || Malignant Epidermoid Cell Tumor || Malignant Squamous Cell Neoplasm || Malignant Squamous Cell Tumor || Squamous Carcinoma || Squamous Cell Cancer || Squamous Cell Carcinoma, NOS || Squamous Cell Carcinoma, Not Otherwise Specified || Squamous Cell Epithelioma" "A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma." C165258 Cellosaurus Disease Terminology C23049 Squamous Cell Carcinoma of the Mouse Oral Cavity Squamous Cell Carcinoma of the Mouse Oral Cavity C165258 Cellosaurus Disease Terminology C21806 Squamous Cell Carcinoma of the Mouse Skin Squamous Cell Carcinoma of the Mouse Skin C165258 Cellosaurus Disease Terminology C168554 Squamous Cell Carcinoma of the Mouse Tongue Squamous Cell Carcinoma of the Mouse Tongue Squamous cell carcinoma arising from the tongue in a mouse. C165258 Cellosaurus Disease Terminology C7729 Squamous Cell Carcinoma of the Penis Squamous Cell Carcinoma of the Penis Epidermoid Carcinoma of Penis || Epidermoid Carcinoma of the Penis || Epidermoid Cell Carcinoma of Penis || Epidermoid Cell Carcinoma of the Penis || Penile Epidermoid Carcinoma || Penile Epidermoid Cell Carcinoma || Penile Squamous Cell Carcinoma || Squamous Cell Carcinoma of Penis "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. (WHO, 2004)" C165258 Cellosaurus Disease Terminology C63892 Squamous Cell Carcinoma of the Rat Esophagus Squamous Cell Carcinoma of the Rat Esophagus Rat Esophagus Squamous Cell Carcinoma C165258 Cellosaurus Disease Terminology C64146 Squamous Cell Carcinoma of the Rat Urinary Bladder Squamous Cell Carcinoma of the Rat Urinary Bladder Rat Urinary Bladder Squamous Cell Carcinoma C165258 Cellosaurus Disease Terminology C85078 Stargardt Disease Stargardt Disease An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision. C165258 Cellosaurus Disease Terminology C79484 Stevens-Johnson Syndrome Stevens-Johnson Syndrome "A systemic, serious, and life-threatening disorder characterized by lesions in the skin and mucous membranes that may lead to necrosis. The lesions may appear anywhere in the body but they occur more commonly in the palms, soles, dorsum of the hands, and extensor surfaces. The lesions are vesicular or necrotic in the center, surrounded by an erythematous zone and occupy less than 10% of the body surfaces. The appearance of the mucocutaneous lesions is preceded by an upper respiratory tract infection. It is an immune complex hypersensitivity reaction usually caused by drugs (e.g., sulfa, phenytoin, penicillin), viruses (e.g., herpes simplex, influenza, hepatitis), and malignancies (e.g., carcinoma and lymphoma)." C165258 Cellosaurus Disease Terminology C74984 Stickler Syndrome Stickler Syndrome "A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities." C165258 Cellosaurus Disease Terminology C168733 Stickler Syndrome Type 1 Stickler Syndrome Type 1 "Stickler syndrome inherited in an autosomal dominant pattern, caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain." C165258 Cellosaurus Disease Terminology C118636 Stiff Skin Syndrome Stiff Skin Syndrome "A rare, autosomal dominant inherited syndrome caused by mutations in the FBN1 gene. It is characterized by hard and thickened skin, usually over the entire body, and limited joint motility." C165258 Cellosaurus Disease Terminology C125695 Striatonigral Degeneration Striatonigral Degeneration "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." C165258 Cellosaurus Disease Terminology C141343 Strontium-90 Beta Radiation Strontium-90 Beta Radiation Beta radiation produced by the decay of strontium-90. C165258 Cellosaurus Disease Terminology C50757 Subarachnoid Hemorrhage Subarachnoid Hemorrhage Intracranial hemorrhage into the subarachnoid space. C165258 Cellosaurus Disease Terminology C5977 Submandibular Gland Carcinoma ex Pleomorphic Adenoma Submandibular Gland Carcinoma ex Pleomorphic Adenoma Submaxillary Gland Carcinoma ex Pleomorphic Adenoma "A carcinoma that arises from a pleomorphic adenoma in the submandibular gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." C165258 Cellosaurus Disease Terminology C5943 Submandibular Gland Squamous Cell Carcinoma Submandibular Gland Squamous Cell Carcinoma Squamous Cell Carcinoma of Submandibular Gland || Squamous Cell Carcinoma of the Submandibular Gland "An invasive squamous cell carcinoma that arises from the submandibular gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain." C165258 Cellosaurus Disease Terminology C134951 Suncus Murinus Mammary Tumor Suncus Murinus Mammary Tumor A mammary tumor that occurs in Suncus murinus. C165258 Cellosaurus Disease Terminology C3360 Supernumerary Circular Chromosome Supernumerary Circular Chromosome Ring Chromosome An aberrant chromosome where the arms have fused to form a ring. C165258 Cellosaurus Disease Terminology C179067 Susceptibility to Idiopathic Generalized Epilepsy-15 Susceptibility to Idiopathic Generalized Epilepsy-15 "An autosomal dominant susceptibility to idiopathic generalized epilepsy-15, caused by mutation(s) in the RORB gene, encoding nuclear receptor ROR-beta. The condition is characterized by early-onset generalized seizures and may have associated developmental delay." C165258 Cellosaurus Disease Terminology C3400 Synovial Sarcoma Synovial Sarcoma "Synovial Sarcoma, NOS || Synovial Sarcoma, Not Otherwise Specified" "A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11). It can occur at any age, but mainly affects young adults, more commonly males. Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee. Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components). Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes." C165258 Cellosaurus Disease Terminology C3201 Systemic Lupus Erythematosus Systemic Lupus Erythematosus "SLE - Lupus Erythematosus, Systemic" An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. C165258 Cellosaurus Disease Terminology C9235 Systemic Mastocytosis Systemic Mastocytosis Systemic Tissue Mast Cell Disease "A variant of mastocytosis characterized by multifocal, dense infiltrates of mast cells (15 or more mast cells in aggregates) detected in the bone marrow and/or other extracutaneous sites. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C72070 Systemic Scleroderma Systemic Scleroderma "Diffuse Scleroderma || Diffuse Sclerosis || Scleroderma, Diffuse || Scleroderma, Systemic || Systemic Sclerosis" "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." C165258 Cellosaurus Disease Terminology C3183 T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia Acute T Cell Leukemia || Acute T Cell Lymphoblastic Leukemia || Acute T-Cell Leukemia || Acute T-Cell Lymphoblastic Leukemia || Precursor T-Lymphoblastic Leukemia || T-Acute Lymphoblastic Leukemia || T-Cell Acute Lymphoblastic Leukemia || T-Cell Type Acute Leukemia "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C70649 T-Cell Chronic Lymphocytic Leukemia A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line. C165258 Cellosaurus Disease Terminology C4664 T-Cell Large Granular Lymphocyte Leukemia T-Cell Large Granular Lymphocyte Leukemia Large Cell Granular Lymphoid Leukemia || Large Granular Lymphocytic Leukemia || Large Granular Lymphocytosis || T Gamma Lymphoproliferative Disorder || T-Cell Large Granular Lymphocytic Leukemia || T-Gamma Lymphoproliferative Disorder "A T-cell peripheral neoplasm characterized by a persistent (>6 months) increase in the number of peripheral blood large granular lymphocytes, without a clearly identified cause. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C3466 T-Cell Non-Hodgkin Lymphoma T-Cell Non-Hodgkin Lymphoma Non-Hodgkin's T-Cell Lymphoma || T Cell Lymphoma || T-Cell Lymphoma || T-Cell Non-Hodgkin's Lymphoma || T-Cell and NK-Cell Non-Hodgkin Lymphoma || T-Cell and NK-Cell Non-Hodgkin's Lymphoma A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. C165258 Cellosaurus Disease Terminology C4752 T-Cell Prolymphocytic Leukemia T-Cell Prolymphocytic Leukemia T Cell Prolymphocytic Leukemia || T Prolymphocytic Leukemia "An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C85181 Takotsubo Cardiomyopathy Takotsubo Cardiomyopathy Broken-heart Syndrome || Tako-Tsubo Cardiomyopathy || Takotsubo Syndrome "A rare disorder characterized by transient left ventricular wall systolic dysfunction, resulting in apical ballooning appearance, chest pain, and ST segment elevation." C165258 Cellosaurus Disease Terminology C134964 Tamarin Colon Adenocarcinoma Tamarin Colon Adenocarcinoma Adenocarcinoma arising in the colon of a tamarin. C165258 Cellosaurus Disease Terminology C85182 Tangier Disease Tangier Disease "A rare, autosomal recessive inherited disorder of cholesterol transport, resulting in severe reduction of the amount of high density lipoprotein in the plasma and accumulation of cholesterol esters in the tissues. Signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and hypocholesterolemia." C165258 Cellosaurus Disease Terminology C85184 Tay-Sachs Disease Tay-Sachs Disease "A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis." C165258 Cellosaurus Disease Terminology C3902 Telangiectatic Osteosarcoma Telangiectatic Osteosarcoma Malignant Bone Aneurysm || Telangiectatic Osteogenic Sarcoma An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma. C165258 Cellosaurus Disease Terminology C148371 Temtamy Syndrome Temtamy Syndrome "An extremely rare autosomal recessive condition caused by mutation(s) in the C12orf57 gene, encoding protein C10. It is characterized by agenesis/hypoplasia of the corpus callosum, associated with developmental delay, and variable craniofacial and skeletal abnormalities." C165258 Cellosaurus Disease Terminology C3403 Teratoma Teratoma "A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as benign (grade 0 or 1), immature (grade 2), and malignant (grade 3). Grade 0 teratomas contain only mature elements; grade 1 teratomas have a limited degree of immaturity; grade 2 teratomas have a more extensive degree of immaturity; grade 3 teratomas are composed exclusively of immature tissues. The prognosis depends on patient age, tumor size and grade, and stage." C165258 Cellosaurus Disease Terminology C7733 Testicular Choriocarcinoma Testicular Choriocarcinoma Choriocarcinoma of Testis || Choriocarcinoma of the Testis A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. C165258 Cellosaurus Disease Terminology C6341 Testicular Embryonal Carcinoma Testicular Embryonal Carcinoma Embryonal Carcinoma of Testis || Embryonal Carcinoma of the Testis "A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." C165258 Cellosaurus Disease Terminology C3404 Testicular Neoplasm Testicular Neoplasm Neoplasm of Testis || Neoplasm of the Testis || Testicular Tumor || Tumor of Testis || Tumor of the Testis "A benign or malignant neoplasm that affects the testis. Representative examples include fibroma, thecoma, benign Sertoli cell tumor, seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma." C165258 Cellosaurus Disease Terminology C7328 Testicular Seminoma Testicular Seminoma Seminoma of Testis || Seminoma of the Testis || Testicular Seminoma Pure "A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma." C165258 Cellosaurus Disease Terminology C3877 Testicular Teratoma Testicular Teratoma Teratoma of Testis || Teratoma of the Testis "A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites." C165258 Cellosaurus Disease Terminology C8000 Testicular Yolk Sac Tumor Testicular Yolk Sac Tumor Endodermal Sinus Neoplasm of Testis || Endodermal Sinus Neoplasm of the Testis || Endodermal Sinus Tumor of Testis || Endodermal Sinus Tumor of the Testis || Testicular Endodermal Sinus Neoplasm || Testicular Endodermal Sinus Tumor || Testicular Yolk Sac Neoplasm || Yolk Sac Neoplasm of Testis || Yolk Sac Neoplasm of the Testis || Yolk Sac Tumor of Testis || Yolk Sac Tumor of the Testis "A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." C165258 Cellosaurus Disease Terminology C84505 Tetralogy of Fallot Tetralogy of Fallot "A congenital heart disorder characterized by the presence of the following four abnormalities: ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy." C165258 Cellosaurus Disease Terminology C35069 Thalassemia Thalassemia An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. C165258 Cellosaurus Disease Terminology C85187 Thanatophoric Dysplasia Thanatophoric Dysplasia "A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate." C165258 Cellosaurus Disease Terminology C8252 Therapy-Related Acute Myeloid Leukemia Therapy-Related Acute Myeloid Leukemia Treatment Related AML || Treatment Related Acute Myelogenous Leukemia || Treatment Related Acute Myeloid Leukemia || Treatment-Related AML || Treatment-Related Acute Myelogenous Leukemia || Treatment-related Acute Myeloid Leukemia "An acute myeloid leukemia arising as a result of the mutagenic effect of chemotherapy agents and/or ionizing radiation. (WHO, 2001)" C165258 Cellosaurus Disease Terminology C27001 Thoracic Aortic Aneurysm Thoracic Aortic Aneurysm An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. C165258 Cellosaurus Disease Terminology C177775 Thoracic Chordoma Thoracic Chordoma A chordoma that arises from the thoracic spine. C165258 Cellosaurus Disease Terminology C158138 Thoracic Endometriosis Thoracic Endometriosis "A condition characterized by the presence of functioning endometrial tissue in the lung, pleura, chest wall, and/or diaphragm." C165258 Cellosaurus Disease Terminology C129035 Thrombocytopenia 2 Thrombocytopenia 2 "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." C165258 Cellosaurus Disease Terminology C7569 Thymic Carcinoma Thymic Carcinoma Thymic Carcinoma (Excluding Well Differentiated Thymic Carcinoma) || Thymic Carcinoma Excluding Well Differentiated Thymic Carcinoma "A diverse group of carcinomas of the thymus gland, previously known as thymoma type C. It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation." C165258 Cellosaurus Disease Terminology C6451 Thymic Lymphoma Thymic Lymphoma Lymphoma of Thymus || Lymphoma of the Thymus || Primary Thymic Lymphoma || Thymus Lymphoma A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. C165258 Cellosaurus Disease Terminology C35718 Thymic Undifferentiated Carcinoma Thymic Undifferentiated Carcinoma "A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." C165258 Cellosaurus Disease Terminology C3411 Thymoma Thymoma "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." C165258 Cellosaurus Disease Terminology C3412 Thymus Neoplasm Thymus Neoplasm Neoplasm of Thymus || Neoplasm of the Thymus || Thymic Neoplasm || Thymic Tumor || Thymus Tumor || Tumor of Thymus || Tumor of the Thymus A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma. C165258 Cellosaurus Disease Terminology C3878 Thyroid Gland Anaplastic Carcinoma Thyroid Gland Anaplastic Carcinoma Anaplastic Carcinoma of Thyroid || Anaplastic Carcinoma of Thyroid Gland || Anaplastic Carcinoma of the Thyroid || Anaplastic Carcinoma of the Thyroid Gland || Anaplastic Follicular Cell Derived Thyroid Carcinoma || Anaplastic Follicular Cell Derived Thyroid Gland Carcinoma || Anaplastic Thyroid Cancer || Anaplastic Thyroid Carcinoma || Anaplastic Thyroid Gland Carcinoma || Dedifferentiated Thyroid Gland Carcinoma || Metaplastic Thyroid Gland Carcinoma || Pleomorphic Thyroid Gland Carcinoma || Sarcomatoid Thyroid Gland Carcinoma || Thyroid Gland Carcinosarcoma || Thyroid Gland Giant Cell Carcinoma || Thyroid Gland Metaplastic Carcinoma || Thyroid Gland Pleomorphic Carcinoma || Thyroid Gland Sarcomatoid Carcinoma || Thyroid Gland Spindle Cell Carcinoma || Thyroid Gland Undifferentiated (Anaplastic) Carcinoma || Undifferentiated (Anaplastic) Thyroid Gland Carcinoma || Undifferentiated Carcinoma of Thyroid || Undifferentiated Carcinoma of Thyroid Gland || Undifferentiated Carcinoma of the Thyroid || Undifferentiated Carcinoma of the Thyroid Gland || Undifferentiated Thyroid Carcinoma || Undifferentiated Thyroid Gland Carcinoma "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." C165258 Cellosaurus Disease Terminology C4815 Thyroid Gland Carcinoma Thyroid Gland Carcinoma Cancer of Thyroid || Cancer of the Thyroid || Carcinoma of Thyroid || Carcinoma of Thyroid Gland || Carcinoma of the Thyroid || Carcinoma of the Thyroid Gland || Thyroid Cancer || Thyroid Carcinoma || Thyroid Gland Cancer "A carcinoma arising from the thyroid gland. It includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic carcinoma." C165258 Cellosaurus Disease Terminology C3502 Thyroid Gland Follicular Adenoma Thyroid Gland Follicular Adenoma Adenoma of Thyroid || Adenoma of Thyroid Gland || Adenoma of the Thyroid || Adenoma of the Thyroid Gland || Follicular Adenoma || Follicular Adenoma of Thyroid || Follicular Adenoma of Thyroid Gland || Follicular Adenoma of the Thyroid || Follicular Adenoma of the Thyroid Gland || Thyroid Adenoma || Thyroid Follicular Adenoma || Thyroid Gland Adenoma "A benign, encapsulated neoplasm arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics." C165258 Cellosaurus Disease Terminology C8054 Thyroid Gland Follicular Carcinoma Thyroid Gland Follicular Carcinoma Follicular Adenocarcinoma || Follicular Cancer of Thyroid || Follicular Cancer of Thyroid Gland || Follicular Cancer of the Thyroid || Follicular Cancer of the Thyroid Gland || Follicular Carcinoma || Follicular Carcinoma of Thyroid || Follicular Carcinoma of Thyroid Gland || Follicular Carcinoma of the Thyroid || Follicular Carcinoma of the Thyroid Gland || Follicular Thyroid Cancer || Follicular Thyroid Carcinoma || Follicular Thyroid Gland Carcinoma || Thyroid Follicular Carcinoma || Well-Differentiated Follicular Adenocarcinoma || Well-Differentiated Follicular Carcinoma "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy." C165258 Cellosaurus Disease Terminology C4946 Thyroid Gland Hurthle Cell Carcinoma Thyroid Gland Oncocytic Carcinoma Hurthle Cell Carcinoma of Thyroid || Hurthle Cell Carcinoma of Thyroid Gland || Hurthle Cell Carcinoma of the Thyroid || Hurthle Cell Carcinoma of the Thyroid Gland || Hurthle Cell Thyroid Gland Carcinoma || Oncocytic Carcinoma of Thyroid || Oncocytic Carcinoma of the Thyroid || Thyroid Gland Hurthle Cell Carcinoma || Thyroid Gland Oncocytic Follicular Carcinoma || Thyroid Hurthle Cell Carcinoma || Thyroid Oncocytic Carcinoma "A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent." C165258 Cellosaurus Disease Terminology C4161 Thyroid Gland Macrofollicular Adenoma Thyroid Gland Macrofollicular Adenoma Colloid Adenoma || Macrofollicular Adenoma A thyroid gland adenoma composed of large size follicles. C165258 Cellosaurus Disease Terminology C3879 Thyroid Gland Medullary Carcinoma Thyroid Gland Medullary Carcinoma C Cell Carcinoma || C-Cell Carcinoma || Medullary Carcinoma || Medullary Carcinoma of Thyroid || Medullary Carcinoma of Thyroid Gland || Medullary Carcinoma of the Thyroid || Medullary Carcinoma of the Thyroid Gland || Medullary Thyroid Cancer || Medullary Thyroid Carcinoma || Medullary Thyroid Gland Carcinoma || Parafollicular Cell Carcinoma || Thyroid Gland Neuroendocrine Carcinoma || Thyroid Medullary Carcinoma A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy. C165258 Cellosaurus Disease Terminology C4035 Thyroid Gland Papillary Carcinoma Thyroid Gland Papillary Carcinoma Papillary Cancer of Thyroid || Papillary Cancer of Thyroid Gland || Papillary Cancer of the Thyroid || Papillary Cancer of the Thyroid Gland || Papillary Carcinoma of Thyroid || Papillary Carcinoma of Thyroid Gland || Papillary Carcinoma of the Thyroid || Papillary Carcinoma of the Thyroid Gland || Papillary Thyroid Cancer || Papillary Thyroid Carcinoma || Papillary Thyroid Gland Carcinoma || Thyroid Papillary Carcinoma "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance." C165258 Cellosaurus Disease Terminology C6041 Thyroid Gland Sarcoma Thyroid Gland Sarcoma Sarcoma of Thyroid || Sarcoma of Thyroid Gland || Sarcoma of the Thyroid || Sarcoma of the Thyroid Gland || Thyroid Sarcoma A malignant mesenchymal neoplasm primarily involving the thyroid gland. C165258 Cellosaurus Disease Terminology C46008 Thyroid Gland Squamous Cell Carcinoma "Thyroid Gland Anaplastic Carcinoma, Squamous Cell Carcinoma Pattern" Thyroid Gland Squamous Cell Carcinoma Thyroid gland anaplastic carcinoma with focal or complete squamous differentiation. Primary thyroid gland squamous cell carcinomas have similar poor overall survival rates as compared to conventional anaplastic thyroid gland carcinomas and are now considered a subtype of the latter. C165258 Cellosaurus Disease Terminology C4648 Tongue Squamous Cell Carcinoma Tongue Squamous Cell Carcinoma SCC of Tongue || SCC of the Tongue || Squamous Cell Carcinoma of Tongue || Squamous Cell Carcinoma of the Tongue || Tongue SCC A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis. C165258 Cellosaurus Disease Terminology C3417 Tonsillar Neoplasm Tonsillar Neoplasm Neoplasm of Tonsil || Neoplasm of the Tonsil || Tonsil Neoplasm || Tonsil Tumor || Tonsillar Neoplasms || Tonsillar Tumor || Tumor of Tonsil || Tumor of the Tonsil A benign or malignant neoplasm that affects the tonsil. C165258 Cellosaurus Disease Terminology C8183 Tonsillar Squamous Cell Carcinoma Tonsillar Squamous Cell Carcinoma SCC of Tonsil || SCC of the Tonsil || Squamous Cell Carcinoma of Tonsil || Squamous Cell Carcinoma of the Tonsil || Tonsil SCC || Tonsil Squamous Cell Carcinoma || Tonsillar SCC "A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass." C165258 Cellosaurus Disease Terminology C156361 Torsion Dystonia 6 Torsion Dystonia 6 "An autosomal dominant condition caused by mutation(s) in the THAP1 gene, encoding THAP domain-containing protein 1. It is characterized by dystonic craniofacial movements, dysarthria, and dysphagia. Limb involvement is common." C165258 Cellosaurus Disease Terminology C98585 Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return "A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth." C165258 Cellosaurus Disease Terminology C35078 Tourette Syndrome Tourette Syndrome Tourette's Syndrome A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. C165258 Cellosaurus Disease Terminology C142806 Transcobalamin II Deficiency Transcobalamin II Deficiency "An autosomal recessive condition caused by mutation(s) in the TCN2 gene, encoding transcobalamin-2. it is characterized by failure to thrive, megaloblastic anemia, and pancytopenia." C165258 Cellosaurus Disease Terminology C50781 Transient Ischemic Attack Transient Ischemic Attack "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit." C165258 Cellosaurus Disease Terminology C64161 Transitional Cell Carcinoma of the Rat Urinary Bladder Transitional Cell Carcinoma of the Rat Urinary Bladder Rat Urinary Bladder Transitional Cell Carcinoma C165258 Cellosaurus Disease Terminology C84742 Transposition of Great Vessels Transposition of Great Vessels Great Vessels Transposition A congenital cardiac defect in which two heart vessels are reversed (transposed). C165258 Cellosaurus Disease Terminology C75018 Treacher Collins Syndrome Treacher Collins Syndrome Mandibulofacial Dysostosis "A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures." C165258 Cellosaurus Disease Terminology C4113 Trichilemmoma Trichilemmoma Tricholemmoma "A benign neoplasm arising from the outer hair sheath and infundibulum. It occurs in the head and neck, usually on the face. It usually presents as an exophytic wart-like lesion or a dome-shaped lesion with smooth surface. Multiple facial lesions are usually associated with Cowden disease." C165258 Cellosaurus Disease Terminology C21817 Trichoepithelioma Type of Basaloid Follicular Neoplasm of the Mouse Skin Trichoepithelioma Type of Basaloid Follicular Neoplasm of the Mouse Skin C165258 Cellosaurus Disease Terminology C75109 Trichorhinophalangeal Syndrome Type I Trichorhinophalangeal Syndrome Type I "A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and elongated philtrum), skeletal abnormalities (cone-shaped epiphyses, hip malformation), short stature, and mild growth retardation." C165258 Cellosaurus Disease Terminology C75118 Trichorhinophalangeal Syndrome Type II Trichorhinophalangeal Syndrome Type II Langer-Giedion Syndrome "A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation." C165258 Cellosaurus Disease Terminology C4924 Trichothiodystrophy Trichothiodystrophy Trichothiodystrophy Syndrome "A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility." C165258 Cellosaurus Disease Terminology C156433 "Trichothiodystrophy 1, Photosensitive" "Trichothiodystrophy 1, Photosensitive" "An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD." C165258 Cellosaurus Disease Terminology C173103 "Trichothiodystrophy 2, Photosensitive" "Trichothiodystrophy 2, Photosensitive" "An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC3 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPB." C165258 Cellosaurus Disease Terminology C173099 "Trichothiodystrophy 3, Photosensitive" "Trichothiodystrophy 3, Photosensitive" "An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the GTF2H5 gene, encoding general transcription factor IIH subunit 5." C165258 Cellosaurus Disease Terminology C146899 "Trichothiodystrophy 4, Nonphotosensitive" "Trichothiodystrophy 4, Nonphotosensitive" "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein." C165258 Cellosaurus Disease Terminology C173102 "Trichothiodystrophy 7, Nonphotosensitive" "Trichothiodystrophy 7, Nonphotosensitive" "An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the TARS1 gene, encoding threonine-tRNA ligase 1, cytoplasmic." C165258 Cellosaurus Disease Terminology C131652 Triosephosphate Isomerase Deficiency Triosephosphate Isomerase Deficiency TP1 Deficiency || Triosephosphate-Isomerase Deficiency "An autosomal recessive condition caused by mutation(s) in the TPI1 gene, encoding triosephosphate isomerase. It is characterized by congenital hemolytic anemia and progressive neuromuscular dysfunction." C165258 Cellosaurus Disease Terminology C35710 Triple A Syndrome Triple A Syndrome Allgrove Syndrome "An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production." C165258 Cellosaurus Disease Terminology C71732 Triple-Negative Breast Carcinoma Triple-Negative Breast Carcinoma Triple-Negative Breast Cancer "An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)." C165258 Cellosaurus Disease Terminology C85204 Triploidy Syndrome Triploidy Syndrome Triploid Syndrome A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects. C165258 Cellosaurus Disease Terminology C36420 Trisomy 12 Trisomy 12 A chromosomal abnormality consisting of the presence of a third copy of chromosome 12 in somatic cells. C165258 Cellosaurus Disease Terminology C36529 Trisomy 13 Trisomy 13 "A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities." C165258 Cellosaurus Disease Terminology C116344 Trisomy 14 Trisomy 14 A chromosomal abnormality consisting of the presence of a third copy of chromosome 14 in somatic cells. C165258 Cellosaurus Disease Terminology C84283 Trisomy 15 Trisomy 15 A chromosomal abnormality consisting of the presence of a third copy of chromosome 15 in somatic cells. C165258 Cellosaurus Disease Terminology C37866 Trisomy 16 Trisomy 16 A chromosomal abnormality consisting of the presence of a third copy of chromosome 16 in somatic cells. C165258 Cellosaurus Disease Terminology C37865 Trisomy 17 Trisomy 17 A chromosomal abnormality consisting of the presence of a third copy of chromosome 17 in somatic cells. C165258 Cellosaurus Disease Terminology C36626 Trisomy 18 Trisomy 18 A chromosomal abnormality consisting of the presence of a third copy of chromosome 18 in somatic cells. C165258 Cellosaurus Disease Terminology C36495 Trisomy 2 Trisomy 2 A chromosomal abnormality consisting of the presence of a third copy of chromosome 2 in somatic cells. C165258 Cellosaurus Disease Terminology C36397 Trisomy 20 Trisomy 20 A chromosomal abnormality consisting of the presence of a third copy of chromosome 20 in somatic cells. C165258 Cellosaurus Disease Terminology C43224 Trisomy 21 Trisomy 21 A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells. C165258 Cellosaurus Disease Terminology C114765 Trisomy 22 Trisomy 22 A chromosomal abnormality consisting of the presence of a third copy of chromosome 22 in somatic cells. C165258 Cellosaurus Disease Terminology C36425 Trisomy 3 Trisomy 3 A chromosomal abnormality consisting of the presence of a third copy of chromosome 3 in somatic cells. C165258 Cellosaurus Disease Terminology C36433 Trisomy 5 Trisomy 5 A chromosomal abnormality consisting of the presence of a third copy of chromosome 5 in somatic cells. C165258 Cellosaurus Disease Terminology C36396 Trisomy 8 Trisomy 8 tri8 A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. C165258 Cellosaurus Disease Terminology C84282 Trisomy 9 Trisomy 9 A chromosomal abnormality consisting of the presence of a third copy of chromosome 9 in somatic cells. C165258 Cellosaurus Disease Terminology C165595 Tritium Beta Radiation Tritium Beta Radiation Hydrogen-3 Beta Radiation Beta radiation produced from the decay of tritium. The energy of the beta particle emitted as tritium decays to helium averages 5.7 keV. C165258 Cellosaurus Disease Terminology C85207 True Hermaphroditism True Hermaphroditism A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia. C165258 Cellosaurus Disease Terminology C3424 Tuberous Sclerosis Tuberous Sclerosis Bourneville's Disease || Tuberous Sclerosis Complex "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." C165258 Cellosaurus Disease Terminology C75122 Tuberous Sclerosis 1 Tuberous Sclerosis 1 Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). C165258 Cellosaurus Disease Terminology C75331 Tuberous Sclerosis 2 Tuberous Sclerosis 2 Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). C165258 Cellosaurus Disease Terminology C3938 Turcot Syndrome Turcot Syndrome "An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis." C165258 Cellosaurus Disease Terminology C26900 Turner Syndrome Turner Syndrome Gonadal Dysgenesis "A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility." C165258 Cellosaurus Disease Terminology C135001 Turtle Neoplasm Turtle Neoplasm A neoplasm that occurs in a turtle. C165258 Cellosaurus Disease Terminology C2986 Type 1 Diabetes Mellitus Type 1 Diabetes Mellitus Insulin Dependent Diabetes || Insulin Dependent Diabetes Mellitus || Juvenile Diabetes || Type 1 Diabetes || Type I Diabetes || Type I Diabetes Mellitus A chronic condition characterized by minimal or absent production of insulin by the pancreas. C165258 Cellosaurus Disease Terminology C26747 Type 2 Diabetes Mellitus Type 2 Diabetes Mellitus "Adult-Onset Diabetes || Diabetes, Type 2 || NIDDM || Non-Insulin Dependent Diabetes || Non-Insulin Dependent Diabetes Mellitus || T2DM - Type 2 Diabetes mellitus || Type 2 Diabetes || Type 2 Diabetes Mellitus Non-Insulin Dependent || Type II Diabetes || Type II Diabetes Mellitus" A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. C165258 Cellosaurus Disease Terminology C99099 Type I Acrocephalosyndactyly Type I Acrocephalosyndactyly Apert Syndrome "An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes." C165258 Cellosaurus Disease Terminology C3816 Type II Achondrogenesis Type II Achondrogenesis "Achondrogenesis, Type II || Hypochondrogenesis || Langer-Saldino Achondrogenesis" "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is the most severe of a spectrum of disorders caused by mutations in the COL2A1 gene, characterized by short limbs, small chest and lungs, and abnormal ossification of the spine and pelvis. Often, infants die at birth or shortly thereafter." C165258 Cellosaurus Disease Terminology C75034 Type III Acrocephalosyndactyly Type III Acrocephalosyndactyly Saethre-Chotzen Syndrome "A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes." C165258 Cellosaurus Disease Terminology C99100 Type V Acrocephalosyndactyly Type V Acrocephalosyndactyly Noack Syndrome || Pfeiffer Syndrome "An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes." C165258 Cellosaurus Disease Terminology C157158 Tyrosine Hydroxylase Deficiency Tyrosine Hydroxylase Deficiency "Dystonia, Dopa-Responsive, Autosomal Recessive || Parkinsonism, Infantile, Autosomal Recessive || Segawa Syndrome, Autosomal Recessive" "An autosomal recessive condition caused by mutation(s) in the TH gene, encoding tyrosine 3-monooxygenase. It is characterized by onset in infancy of dopa-responsive dystonia." C165258 Cellosaurus Disease Terminology C98641 Tyrosinemia Type I Tyrosinemia Type I Type I Tyrosinemia "Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Patients with this type of tyrosinemia may also have a predisposition for hepatocellular carcinoma." C165258 Cellosaurus Disease Terminology C129032 Tyrosinemia Type II Tyrosinemia Type II "Tyrosinemia caused by mutation(s) in the TAT gene, encoding tyrosine aminotransferase. The inheritance is autosomal recessive." C165258 Cellosaurus Disease Terminology C173106 UV-Sensitive Syndrome 1 UV-Sensitive Syndrome 1 "An autosomal recessive condition caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. It is characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors." C165258 Cellosaurus Disease Terminology C173110 UV-Sensitive Syndrome 2 UV-Sensitive Syndrome 2 "An autosomal recessive condition caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. It is characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors." C165258 Cellosaurus Disease Terminology C173107 UV-Sensitive Syndrome 3 UV-Sensitive Syndrome 3 "An autosomal recessive condition caused by mutation(s) in the UVSSA gene, encoding UV-stimulated scaffold protein A. it is characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors." C165258 Cellosaurus Disease Terminology C123438 Ullrich Congenital Muscular Dystrophy Ullrich Congenital Muscular Dystrophy Scleroatonic Ullrich Disease "A rare, autosomal recessive inherited disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at birth or early infancy. Affected individuals have severe muscle weakness, multiple contractures, and hypermobility in their distal joints." C165258 Cellosaurus Disease Terminology C17231 Ultraviolet Radiation Ultraviolet Radiation "Radiation, UV || Sun/Ultra-Violet Rays || UV || UV Radiation" The invisible ultraviolet spectrum makes up one specific portion of sunlight. This unique portion accounts for three percent of all solar radiation reaching the earth. UV radiation causes many health problems. C165258 Cellosaurus Disease Terminology C4247 Undifferentiated Pleomorphic Sarcoma Undifferentiated Pleomorphic Sarcoma "Storiform-Pleomorphic Malignant Fibrous Histiocytoma || Unclassified Pleomorphic Sarcoma || Unclassified Pleomorphic Sarcoma (Formerly ""MFH"") || Unclassified Pleomorphic Sarcoma (Formerly ""Malignant Fibrous Histiocytoma"") || Undifferentiated Pleomorphic Soft Tissue Sarcoma" An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. C165258 Cellosaurus Disease Terminology C35094 Unipolar Depression Unipolar Depression Major Depression || Major Depressive Disorder "A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts." C165258 Cellosaurus Disease Terminology C8173 Upper Gingival Squamous Cell Carcinoma Upper Gingival Squamous Cell Carcinoma SCC of Upper Gingiva || SCC of Upper Gum || SCC of the Upper Gingiva || SCC of the Upper Gum || Squamous Cell Carcinoma of Upper Gingiva || Squamous Cell Carcinoma of Upper Gum || Squamous Cell Carcinoma of the Upper Gingiva || Squamous Cell Carcinoma of the Upper Gum || Upper Gingival SCC || Upper Gum SCC || Upper Gum Squamous Cell Carcinoma A squamous cell carcinoma of the oral cavity that arises from the upper gingiva. C165258 Cellosaurus Disease Terminology C8993 Ureter Carcinoma Ureter Carcinoma Carcinoma of Ureter || Carcinoma of the Ureter || Ureteral Carcinoma A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. C165258 Cellosaurus Disease Terminology C4830 Ureter Urothelial Carcinoma Ureter Urothelial Carcinoma Transitional Cell Carcinoma of Ureter || Transitional Cell Carcinoma of the Ureter || Ureter Transitional Cell Carcinoma || Ureteral Transitional Cell Carcinoma || Ureteral Urothelial Cell Carcinoma || Urothelial Cell Carcinoma of Ureter || Urothelial Cell Carcinoma of the Ureter A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria. C165258 Cellosaurus Disease Terminology C6166 Urethral Urothelial Carcinoma Urethral Urothelial Carcinoma Transitional Cell Carcinoma of Urethra || Transitional Cell Carcinoma of the Urethra || Urethra Transitional Cell Carcinoma || Urethral Transitional Cell Carcinoma A transitional cell carcinoma that arises from the male or female urethra. C165258 Cellosaurus Disease Terminology C85217 Usher Syndrome Usher Syndrome "A rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa." C165258 Cellosaurus Disease Terminology C126327 Usher Syndrome Type 1 Usher Syndrome Type 1 "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa." C165258 Cellosaurus Disease Terminology C126328 Usher Syndrome Type 2 Usher Syndrome Type 2 "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa." C165258 Cellosaurus Disease Terminology C153174 Usher Syndrome Type 2C Usher Syndrome Type 2C "An autosomal recessive sub-type of Usher syndrome caused by homozygous or compound heterozygous mutation(s) in the ADGRV1 gene, encoding adhesion G protein-coupled receptor V1. It may also result from biallelic digenic mutation(s) in ADGRV1 and PDZD7, which encodes PDZ domain-containing protein 7." C165258 Cellosaurus Disease Terminology C42700 Uterine Carcinosarcoma Uterine Carcinosarcoma Carcinosarcoma of the Uterus || Malignant Mixed Mesodermal (Mullerian) Tumor of the Uterus || Malignant Mixed Mesodermal (Müllerian) Tumor of the Uterus || Uterine Malignant Mixed Mesodermal (Mullerian) Tumor || Uterine Malignant Mixed Mesodermal (Müllerian) Tumor "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma." C165258 Cellosaurus Disease Terminology C3434 Uterine Corpus Leiomyoma Uterine Corpus Leiomyoma Body of Uterus Fibroid || Body of Uterus Leiomyoma || Corpus Uteri Fibroid || Corpus Uteri Leiomyoma || Fibroid of Body of Uterus || Fibroid of Corpus Uteri || Fibroid of Uterine Body || Fibroid of Uterine Corpus || Fibroid of the Body of Uterus || Fibroid of the Corpus Uteri || Fibroid of the Uterine Body || Fibroid of the Uterine Corpus || Leiomyoma of Body of Uterus || Leiomyoma of Corpus Uteri || Leiomyoma of Uterine Body || Leiomyoma of Uterine Corpus || Leiomyoma of the Body of Uterus || Leiomyoma of the Corpus Uteri || Leiomyoma of the Uterine Body || Leiomyoma of the Uterine Corpus || Uterine Body Fibroid || Uterine Body Leiomyoma || Uterine Corpus Fibroid || Uterine Corpus Leiomyomata || Uterine Fibroid "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." C165258 Cellosaurus Disease Terminology C6340 Uterine Corpus Leiomyosarcoma Uterine Corpus Leiomyosarcoma Body of Uterus Leiomyosarcoma || Corpus Uteri Leiomyosarcoma || Leiomyosarcoma of Body of Uterus || Leiomyosarcoma of Corpus Uteri || Leiomyosarcoma of Uterine Body || Leiomyosarcoma of Uterine Corpus || Leiomyosarcoma of Uterus || Leiomyosarcoma of the Body of Uterus || Leiomyosarcoma of the Corpus Uteri || Leiomyosarcoma of the Uterine Body || Leiomyosarcoma of the Uterine Corpus || Leiomyosarcoma of the Uterus || Uterine Body Leiomyosarcoma "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." C165258 Cellosaurus Disease Terminology C6339 Uterine Corpus Sarcoma Uterine Corpus Sarcoma Body of Uterus Sarcoma || Corpus Uteri Sarcoma || Sarcoma of Body of Uterus || Sarcoma of Corpus Uteri || Sarcoma of Uterine Body || Sarcoma of Uterine Corpus || Sarcoma of Uterus || Sarcoma of the Body of Uterus || Sarcoma of the Corpus Uteri || Sarcoma of the Uterine Body || Sarcoma of the Uterine Corpus || Sarcoma of the Uterus || Uterine Body Sarcoma || Uterine Sarcoma || Uterus Sarcoma A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma. C165258 Cellosaurus Disease Terminology C7712 Uveal Melanoma Uveal Melanoma Intraocular Melanoma || Melanoma of Uvea || Melanoma of the Uvea || Uveal Tract Melanoma "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." C165258 Cellosaurus Disease Terminology C99105 VACTERL Association VACTERL Association VATER Association || VATER Syndrome "An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities." C165258 Cellosaurus Disease Terminology C26749 VIP-Producing Neuroendocrine Tumor VIP-Producing Neuroendocrine Tumor VIP Producing Neoplasm || VIP- Secreting Neoplasm || VIP- Secreting Tumor || VIP-Producing NET || VIPoma || Vasoactive Intestinal Peptide Producing Neoplasm || Vasoactive Intestinal Peptide Producing Tumor || Vasoactive Intestinal Peptide Secreting Neoplasm An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances. C165258 Cellosaurus Disease Terminology C27394 Vaginal Melanoma Vaginal Melanoma Melanoma of Vagina || Melanoma of the Vagina A primary malignant neoplasm of the vagina composed of malignant melanocytes. C165258 Cellosaurus Disease Terminology C7736 "Vaginal Squamous Cell Carcinoma, Not Otherwise Specified" "Vaginal Squamous Cell Carcinoma, Not Otherwise Specified" "Vaginal Squamous Cell Carcinoma, NOS" Vaginal squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available. C165258 Cellosaurus Disease Terminology C188993 Van Maldergem Syndrome 1 Van Maldergem Syndrome 1 "An autosomal recessive condition caused by mutation(s) in the DCHS1 gene, encoding protocadherin-16. It is characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, skeletal and limb malformations, and may include renal hypoplasia. Periventricular nodular heterotopia is often noted on MRI." C165258 Cellosaurus Disease Terminology C188994 Van Maldergem Syndrome 2 Van Maldergem Syndrome 2 "An autosomal recessive condition caused by mutation(s) in the DCHS1 gene, encoding protocadherin-16. It is characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, skeletal and limb malformations, and may include renal hypoplasia. Periventricular nodular heterotopia is often noted on MRI." C165258 Cellosaurus Disease Terminology C85219 Variegate Porphyria Variegate Porphyria "An autosomal dominant disorder of porphyria-heme metabolism. It is manifested with acute attacks including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion. Patients may experience skin sensitivity to sunlight." C165258 Cellosaurus Disease Terminology C50802 Ventricular Tachycardia Ventricular Tachycardia A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) C165258 Cellosaurus Disease Terminology C98647 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Very Long-Chain Acyl-CoA Dehydrogenase Deficiency "Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency || Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency" "An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis." C165258 Cellosaurus Disease Terminology C3276 Vestibular Schwannoma Vestibular Schwannoma "Acoustic Neurilemmoma || Acoustic Neuroma || Acoustic Schwannoma || Neurilemoma, Acoustic || Neuroma, Acoustic || Vestibular Neurilemmoma" A benign peripheral nerve sheath tumor arising within the internal auditory canal or within the labyrinth. (WHO 2017) C165258 Cellosaurus Disease Terminology C138174 Vici Syndrome Vici Syndrome "An autosomal recessive condition caused by mutation(s) in the EPG5 gene, encoding ectopic P granules protein 5 homolog. It is characterized by variable immunodeficiency, cleft lip/palate, cataracts, hypopigmentation, and absent corpus callosum." C165258 Cellosaurus Disease Terminology C118788 Vitelliform Macular Dystrophy Vitelliform Macular Dystrophy "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. It may be of early onset, autosomal dominant inherited and caused by mutations in the BEST1 gene (BEST disease) or late onset, caused by mutations in the PRPH2 gene." C165258 Cellosaurus Disease Terminology C26915 Vitiligo Vitiligo Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. C165258 Cellosaurus Disease Terminology C3105 Von Hippel-Lindau Syndrome Von Hippel Lindau Syndrome Cerebroretinal Angiomatosis || Von Hippel-Lindau Disease || Von Hippel-Lindau Syndrome || Von Hippel-Lindau Syndrome (VHL) "An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004" C165258 Cellosaurus Disease Terminology C4866 Vulvar Carcinoma Vulvar Carcinoma Cancer of Vulva || Cancer of the Vulva || Carcinoma of Vulva || Carcinoma of the Vulva || Vulva Cancer || Vulva Carcinoma || Vulvar Cancer "A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia." C165258 Cellosaurus Disease Terminology C40318 Vulvar Leiomyosarcoma Vulvar Leiomyosarcoma "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." C165258 Cellosaurus Disease Terminology C27723 Vulvar Lichen Sclerosus Vulvar Lichen Sclerosus "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." C165258 Cellosaurus Disease Terminology C40329 Vulvar Melanoma Vulvar Melanoma "A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria." C165258 Cellosaurus Disease Terminology C4052 Vulvar Squamous Cell Carcinoma Vulvar Squamous Cell Carcinoma Epidermoid Carcinoma of Vulva || Epidermoid Carcinoma of the Vulva || Epidermoid Cell Carcinoma of Vulva || Epidermoid Cell Carcinoma of the Vulva || Squamous Cell Carcinoma of Vulva || Squamous Cell Carcinoma of the Vulva || Vulva Epidermoid Carcinoma || Vulva Epidermoid Cell Carcinoma || Vulva Squamous Cell Carcinoma || Vulvar Epidermoid Carcinoma || Vulvar Epidermoid Cell Carcinoma "A squamous cell carcinoma that arises from the vulva. It is classified as human papillomavirus-related or human papillomavirus-independent. When p16 immunohistochemistry or HPV testing is not available, the morphological diagnosis of squamous cell carcinoma, not otherwise specified is acceptable." C165258 Cellosaurus Disease Terminology C85222 Waardenburg Syndrome Waardenburg Syndrome "A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes." C165258 Cellosaurus Disease Terminology C75008 Waardenburg Syndrome Type 1 Waardenburg Syndrome Type 1 Waardenburg Syndrome Type I "A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes." C165258 Cellosaurus Disease Terminology C75009 Waardenburg Syndrome Type 2 Waardenburg Syndrome Type 2 Waardenburg Syndrome Type II A rare autosomal dominant syndrome caused by mutations in the MITF and SNAI2 genes. It has all of the features of Waardenburg syndrome Type 1 except dystopia canthorum. C165258 Cellosaurus Disease Terminology C124842 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type IV || Waardenburg-Shah Syndrome "A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease." C165258 Cellosaurus Disease Terminology C184991 Waisman Syndrome Waisman Syndrome "An X-linked recessive condition caused by mutation(s) in the RAB39B gene, encoding Ras-related protein Rab-39B. It is characterized by clinical features of early-onset parkinsonism and intellectual disability." C165258 Cellosaurus Disease Terminology C80307 Waldenstrom Macroglobulinemia Waldenstrom Macroglobulinemia Waldenstrom's Macroglobulinemia || Waldenström Macroglobulinemia Lymphoplasmacytic lymphoma associated with bone marrow involvement and IgM monoclonal gammopathy. C165258 Cellosaurus Disease Terminology C135002 Walleye Dermal Sarcoma Walleye Dermal Sarcoma Sarcoma arising from the connective tissue of the dermis and occurring in a walleye. C165258 Cellosaurus Disease Terminology C164675 Warsaw Breakage Syndrome Warsaw Breakage Syndrome "An autosomal recessive condition caused by mutation(s) in the DDX11 gene, encoding ATP-dependent DNA helicase DDX11. It is characterized by severe intellectual disability and variable dysmorphic features." C165258 Cellosaurus Disease Terminology C125599 Weaver Syndrome Weaver Syndrome WVS "A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability." C165258 Cellosaurus Disease Terminology C6505 Well Differentiated Liposarcoma Atypical Lipomatous Tumor/Well Differentiated Liposarcoma Atypical Lipomatous Tumor || Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma || Well Differentiated Liposarcoma || Well-Differentiated Liposarcoma "A locally aggressive mesenchymal neoplasm composed either entirely or partly of an adipocytic proliferation showing at least focal nuclear atypia in both adipocytes and stromal cells. ""Atypical lipomatous tumor"" and ""well-differentiated liposarcoma"" are synonyms describing lesions that are morphologically and genetically identical. Amplification of MDM2 and/or CDK4 is almost always present. (WHO 2020)" C165258 Cellosaurus Disease Terminology C98670 Werdnig-Hoffmann Disease Werdnig-Hoffmann Disease "Severe Infantile Spinal Muscular Atrophy || Spinal Muscular Atrophy, Type I" "The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia." C165258 Cellosaurus Disease Terminology C3447 Werner Syndrome Werner Syndrome Adult Progeria || Werner's Syndrome "A rare, autosomal recessive syndrome caused by mutations in the WRN gene. It is characterized by the appearance of accelerated aging following puberty. It is associated with the development of diabetes mellitus, atherosclerosis, cataracts, and cancer." C165258 Cellosaurus Disease Terminology C35764 Wernicke-Korsakoff Syndrome Wernicke-Korsakoff Syndrome Wernicke Encephalopathy "A syndrome caused by thiamine deficiency. It usually occurs in alcoholics and is characterized by confusion, ataxia, and ophthalmoplegia." C165258 Cellosaurus Disease Terminology C84788 West Syndrome West Syndrome "A rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and cognitive dysfunction." C165258 Cellosaurus Disease Terminology C85232 Williams Syndrome Williams Syndrome Williams-Beuren Syndrome || Williams-Beuren Syndrome (WBS) "A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia." C165258 Cellosaurus Disease Terminology C165597 Williams-Beuren Region Duplication Syndrome Williams-Beuren Region Duplication Syndrome Chromosome 7q11.23 Duplication Syndrome || Somerville-Van Der AA Syndrome || WBS Duplication Syndrome "A rare chromosomal anomaly cause by partial duplication of small segment of chromosome 7 (7q11.23). It is characterized by a highly variable phenotype, typically including mild-moderate intellectual developmental delay, and delayed development of speech and motor skills." C165258 Cellosaurus Disease Terminology C3267 Wilms Tumor Wilms Tumor Nephroblastoma || Wilms' Tumor "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." C165258 Cellosaurus Disease Terminology C3718 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome WAGR Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome "A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities." C165258 Cellosaurus Disease Terminology C170731 Winchester Syndrome Winchester Syndrome Torg-Winchester Syndrome "An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis." C165258 Cellosaurus Disease Terminology C3448 Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome Wiskott Aldrich Syndrome "A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common." C165258 Cellosaurus Disease Terminology C35528 Wolf-Hirschhorn Syndrome Wolf-Hirschhorn Syndrome 4p Deletion Syndrome "A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure with malformations of the spine, hands, and feet, congenital heart defects, and genitourinary malformations." C165258 Cellosaurus Disease Terminology C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White Syndrome "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes." C165258 Cellosaurus Disease Terminology C35133 Wolfram Syndrome Wolfram Syndrome "A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness." C165258 Cellosaurus Disease Terminology C61271 Wolman Disease Wolman Disease "A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands." C165258 Cellosaurus Disease Terminology C124251 Woodchuck Hepatocellular Carcinoma Woodchuck Hepatocellular Carcinoma "Hepatocellular carcinoma (HCC) occurring in a woodchuck, usually as a result of chronic infection by the woodchuck hepatitis virus. The woodchuck model of viral-induced HCC provides an animal model that resembles the complex human liver environment of HCC in the context of chronic hepatitis B viral infection." C165258 Cellosaurus Disease Terminology C3822 X-Linked Agammaglobulinemia X-Linked Agammaglobulinemia Bruton's Sex-Linked Agammaglobulinemia || Bruton's X-Linked Agammaglobulinemia "X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells." C165258 Cellosaurus Disease Terminology C173469 X-Linked Cardiac Valvular Dysplasia X-Linked Cardiac Valvular Dysplasia Filamin A-Related X-Linked Myxomatous Valvular Dysplasia || X-Linked Myxomatous Valvular Dysplasia "An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients." C165258 Cellosaurus Disease Terminology C118781 X-Linked Centronuclear Myopathy X-Linked Centronuclear Myopathy MTM || Myotubular Myopathy 1 || X-Linked Myotubular Myopathy || XLCNM An X-linked recessive inherited disorder caused by mutations in the MTM1 gene. Primarily it affects males. Female carriers are usually asymptomatic. It is characterized by skeletal muscle weakness and hypotonia. The muscle weakness ranges from mild to severe. Newborns with severe X-linked centronuclear myopathy develop respiratory distress which may lead to respiratory failure requiring constant ventilator assistance. Patients with mild X-linked centronuclear myopathy usually require ventilator support during the newborn period only. C165258 Cellosaurus Disease Terminology C180844 X-Linked Deafness-4 X-Linked Deafness-4 "An X-linked dominant condition caused by mutation (s) in the SMPX gene, encoding small muscular protein. It is characterized by progressive sensorineural hearing loss." C165258 Cellosaurus Disease Terminology C180843 "X-Linked Deafness-5, with Peripheral Neuropathy" "X-Linked Deafness-5, with Peripheral Neuropathy" "An X-linked recessive condition caused by mutation (s) in the AIFM1 gene, encoding apoptosis-inducing factor 1, mitochondrial . It is characterized by auditory neuropathy, followed by peripheral neuropathy." C165258 Cellosaurus Disease Terminology C85234 X-Linked Dominant Hypophosphatemic Rickets X-Linked Dominant Hypophosphatemic Rickets X-Linked Hypophosphatemia "An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus." C165258 Cellosaurus Disease Terminology C126330 X-Linked Dystonia Parkinsonism X-Linked Dystonia Parkinsonism Dystonia 3 || X-Linked Dystonia-Parkinsonism "An X-linked recessive inherited movement disorder caused by mutations in and near the TAF1 gene. It is found only in people of Filipino descent. It is characterized by parkinsonism and later in life the development of involuntary, sustained muscle contractions." C165258 Cellosaurus Disease Terminology C84779 X-Linked Ichthyosis X-Linked Ichthyosis "Ichthyosis, X-linked" The second most common form of ichthyosis. It is an X-linked inherited disorder with mild skin manifestations. The skin changes appear at birth and include keratinization and scaling. C165258 Cellosaurus Disease Terminology C4682 X-Linked Severe Combined Immunodeficiency X-Linked Severe Combined Immunodeficiency "Rare congenital disorder inherited as an X-linked defect characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels." C165258 Cellosaurus Disease Terminology C188996 X-Linked Spondyloepimetaphyseal Dysplasia X-Linked Spondyloepimetaphyseal Dysplasia "An X-linked condition caused by mutations(s) in the BGN gene on chromosome Xq28, encoding biglycan. It is characterized by severe short-trunk dwarfism and brachydactyly, but with normal facies and normal intelligence." C165258 Cellosaurus Disease Terminology C17262 X-Ray X-Ray "Radiation, X-Rays || X-radiation" Ionizing electromagnetic radiation having a wavelength that is shorter than ultraviolet radiation and longer than gamma radiation. C165258 Cellosaurus Disease Terminology C154315 X-linked Chronic Granulomatous Disease X-linked Chronic Granulomatous Disease "An X-linked recessive form of chronic granulomatous disease caused by mutation(s) in the CYBB gene, encoding cytochrome b-245 beta chain." C165258 Cellosaurus Disease Terminology C170434 X-linked Lymphoproliferative Syndrome 1 X-linked Lymphoproliferative Syndrome 1 Immunodeficiency 5 || X-linked Lymphoproliferative Syndrome 1 || XLP1 "An X-linked recessive condition caused by mutation(s) in the SH2D1A gene, encoding SH2 domain-containing protein 1A. It is characterized by a susceptibility to severe EBV infection, acquired hypogammaglobulinemia, hemophagocytic lymphohistiocytosis, and/or lymphoma." C165258 Cellosaurus Disease Terminology C173111 XFE Progeroid Syndrome XFE Progeroid Syndrome "An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems." C165258 Cellosaurus Disease Terminology C86032 XX Male XX Male A person who has a chromosome composition of 46 XX and who is phenotypically male. C165258 Cellosaurus Disease Terminology C134574 Xenopus Neoplasm Xenopus Neoplasm A neoplasm that occurs in Xenopus. C165258 Cellosaurus Disease Terminology C3452 Xeroderma Pigmentosum Xeroderma Pigmentosum Angioma Pigmentosum Atrophicum || Atrophoderma Pigmentosum || Kaposi Dermatosis || Kaposi Disease || Melanosis Lenticularis Progressiva || Pigmented Epitheliomatosis || Xeroderma Pigmentosum Syndrome || Xeroderma of Kaposi "An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities." C165258 Cellosaurus Disease Terminology C141367 Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum Variant Type "A type of xeroderma pigmentosum resulting from mutation(s) in the POLH gene, encoding DNA polymerase eta. This form of the disease is characterized by normal DNA excision repair, but defective post-replication repair of DNA at UV-damaged sites." C165258 Cellosaurus Disease Terminology C3965 "Xeroderma Pigmentosum, Complementation Group A" "Xeroderma Pigmentosum, Complementation Group A" Xeroderma Pigmentosum Group A C165258 Cellosaurus Disease Terminology C3966 "Xeroderma Pigmentosum, Complementation Group B" "Xeroderma Pigmentosum, Complementation Group B" Xeroderma Pigmentosum Group B C165258 Cellosaurus Disease Terminology C114770 "Xeroderma Pigmentosum, Complementation Group C" "Xeroderma Pigmentosum, Complementation Group C" XP-C || Xeroderma Pigmentosum Group C An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. C165258 Cellosaurus Disease Terminology C3967 "Xeroderma Pigmentosum, Complementation Group D" "Xeroderma Pigmentosum, Complementation Group D" Xeroderma Pigmentosum Group D C165258 Cellosaurus Disease Terminology C114771 "Xeroderma Pigmentosum, Complementation Group E" "Xeroderma Pigmentosum, Complementation Group E" XP-E || Xeroderma Pigmentosum Group E "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer." C165258 Cellosaurus Disease Terminology C3968 "Xeroderma Pigmentosum, Complementation Group F" "Xeroderma Pigmentosum, Complementation Group F" Xeroderma Pigmentosum Group F C165258 Cellosaurus Disease Terminology C3969 "Xeroderma Pigmentosum, Complementation Group G" "Xeroderma Pigmentosum, Complementation Group G" Xeroderma Pigmentosum Group G C165258 Cellosaurus Disease Terminology C156031 Xeroderma Pigmentosum-Cockayne Syndrome Complex Xeroderma Pigmentosum-Cockayne Syndrome Complex Xeroderma Pigmentosum/Cockayne Syndrome A condition characterized by the cutaneous features of xeroderma pigmentosum and the systemic and neurological features of Cockayne syndrome. C165258 Cellosaurus Disease Terminology C134575 Xiphophorus Melanoma Xiphophorus Melanoma Melanoma that occurs in Xiphophorus. C165258 Cellosaurus Disease Terminology C177544 Xq25 Microduplication Syndrome Xq25 Microduplication Syndrome "An X-linked genetic condition caused by duplication of a small segment of Xq25, which may encompass the GRIA3 and STAG2 genes, encoding glutamate receptor 3 and cohesin subunit SA-2. It is characterized by intellectual disability and distinctive facial dysmorphisms." C165258 Cellosaurus Disease Terminology C185244 Y-Linked Spermatogenic Failure-2 Y-Linked Spermatogenic Failure-2 "A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y. It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis." C165258 Cellosaurus Disease Terminology C176704 YARSopathy YARSopathy "An autosomal recessive condition caused by mutation(s) in the YARS gene encoding tyrosine-tRNA ligase. It is characterized by a variable phenotype which may include poor growth, developmental delay, abnormal brain white matter, hearing loss, involuntary eye movements, progressive cholestatic liver disease, pancreatic insufficiency, hypoglycemia, anemia, intermittent excess of protein in urine, recurrent bloodstream infections, and chronic pulmonary disease." C165258 Cellosaurus Disease Terminology C134785 Zebra Finch Neoplasm Zebra Finch Neoplasm A neoplasm that occurs in a zebra finch. C165258 Cellosaurus Disease Terminology C85239 Zellweger Syndrome Zellweger Syndrome "A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia." C165258 Cellosaurus Disease Terminology C68677 von Willebrand Disease von Willebrand Disease von Willebrand's Disease "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding."