A	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.
A	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.
A	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.
A	C165258	Cellosaurus Disease Terminology	C173625	Dilated Cardiomyopathy-1P	Dilated Cardiomyopathy-1P		An autosomal dominant sub-type of dilated cardiomyopathy caused by mutation(s) in the PLN gene, encoding cardiac phospholamban.
A	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.
A	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.
A	C165258	Cellosaurus Disease Terminology	C173624	Horse Transitional Cell Carcinoma	Horse Transitional Cell Carcinoma		Transitional cell carcinoma that occurs in a horse.
A	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.
A	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.
A	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.
A	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.	
A	C165259	Cellosaurus Disease Terminology	C3465	Grade 1 Follicular Lymphoma	Grade 1 Follicular Lymphoma	A follicular lymphoma which contains up to 5 centroblasts per 40X high-power microscopic field.	
A	C165260	Cellosaurus Disease Terminology	C3898	Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue	Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue	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)	
A	C165261	Cellosaurus Disease Terminology	C3944	Congenital Melanocytic Nevus	Congenital Melanocytic 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.	
A	C165262	Cellosaurus Disease Terminology	C4656	Intracranial Meningioma	Intracranial Meningioma	A meningioma that arises within the cranial cavity.	
A	C165263	Cellosaurus Disease Terminology	C6812	Mediastinal Seminoma	Mediastinal Seminoma	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.	
A	C165264	Cellosaurus Disease Terminology	C8114	Ovarian Mixed Germ Cell Tumor	Ovarian Mixed Germ Cell Tumor	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.	
A	C165265	Cellosaurus Disease Terminology	C8498	Hereditary Melanoma	Hereditary Melanoma	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).	
A	C165266	Cellosaurus Disease Terminology	C34609	Fibrous Dysplasia	Fibrous Dysplasia	A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone.  It usually affects a single bone and less frequently multiple bones.  Skull, femur, tibia, and humerus are the most frequently affected bones.  It manifests with pain, deformities, and fractures.	
A	C165267	Cellosaurus Disease Terminology	C74998	Nephronophthisis 1	Nephronophthisis 1	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.	
A	C165268	Cellosaurus Disease Terminology	C84904	Muenke Syndrome	Muenke Syndrome	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.	
A	C165269	Cellosaurus Disease Terminology	C85181	Takotsubo Cardiomyopathy	Takotsubo Cardiomyopathy	A rare disorder characterized by transient left ventricular wall systolic dysfunction, resulting in apical ballooning appearance, chest pain, and ST segment elevation.	
A	C165270	Cellosaurus Disease Terminology	C94524	Pituicytoma	Pituicytoma	An extremely rare, WHO grade I, 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.	
A	C165271	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.	
A	C165272	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.	
A	C165273	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.	
A	C165274	Cellosaurus Disease Terminology	C124845	Hyperglycerolemia 	Hyperglycerolemia 	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.	
A	C165275	Cellosaurus Disease Terminology	C125388	Neuropathy, Hereditary Sensory and Autonomic, Type VII	Neuropathy, Hereditary Sensory and Autonomic, 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.	
D	C165258	Cellosaurus Disease Terminology	C3895	Bare Lymphocyte Syndrome	Bare Lymphocyte Syndrome		A hereditary immunodeficiency disorder caused by the lack of expression of major histocompatibility complex (MHC) proteins. Signs include upper and lower respiratory tract bacterial infections, malabsorption, diarrhea, and mucocutaneous candidiasis.
D	C165258	Cellosaurus Disease Terminology	C120224	CIC-DUX Sarcoma	CIC-DUX Sarcoma	CIC-Rearranged 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 either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.
D	C165258	Cellosaurus Disease Terminology	C35478	Congenital Macular Corneal Dystrophy	Congenital Macular Corneal Dystrophy		
D	C165258	Cellosaurus Disease Terminology	C165671	EWSR1-Negative Small Round Cell Tumor	EWSR1-Negative Small Round Cell Tumor	EWSR1-Negative Small Blue Round Cell Tumor || EWSR1-Negative Small Cell Sarcoma	A high-grade sarcoma characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
D	C165258	Cellosaurus Disease Terminology	C7327	Extragonadal Seminoma	Extragonadal Seminoma	Extragonadal Primary Seminoma || Primary Extragonadal Seminoma	
D	C165258	Cellosaurus Disease Terminology	C27810	Malignant Non-Hodgkin Lymphoma, Cleaved Cell			
D	C165258	Cellosaurus Disease Terminology	C3233	Mesenchymoma			A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.
D	C165258	Cellosaurus Disease Terminology	C8814	Non-Metastatic Leiomyosarcoma	Non-Metastatic Leiomyosarcoma	Leiomyosarcoma Nonmetastatic	Leiomyosarcoma that is confined to the site in which it initially manifested.
D	C165258	Cellosaurus Disease Terminology	C125664	Pain Agnosia	Pain Agnosia	Analgesia	Loss of the ability to perceive and process pain.
D	C165258	Cellosaurus Disease Terminology	C124885	Refrain from Smoking when Nervous	Refrain from Smoking when Nervous	When I feel nervous	A question about an individual's certainty that they can avoid smoking when they are feeling nervous.
D	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.