C	C6569	Congenital 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.	A low grade childhood congenital malignant neoplasm arising from the kidney, which is characterized by the presence of fibroblastic cells.	C123907	Childhood Malignant Kidney Tumor	C3262	Neoplasm	C123272	Pediatric Nephrology Terminology	
C	C78797	Thrombotic Thrombocytopenic Purpura	Thrombotic Thrombocytopenic Purpura	TTP	A coagulation disorder characterized by extensive formation of thrombi in small blood vessels throughout the body due to low levels of ADAMTS13 protein, and resulting in consumption of circulating platelets, which is characterized by thrombocytopenia, anemia, neurologic changes, and sometimes fever and renal dysfunction.	A coagulation disorder characterized by extensive formation of thrombi in small blood vessels throughout the body due to low levels of ADAMTS13 protein, and resulting in consumption of circulating platelets, which is characterized by thrombocytopenia, anemia, neurologic changes, and sometimes fever and renal dysfunction.	C78787	Purpura	C3991	Immune Thrombocytopenia	C123272	Pediatric Nephrology Terminology	
C	C123223	Atypical Hemolytic Uremic Syndrome	Atypical Hemolytic Uremic Syndrome	Non-diarrhea-associated Hemolytic Uremic Syndrome	Hemolytic uremic syndrome not associated with shiga toxin-producing enterobacteria.	Hemolytic uremic syndrome not associated with shiga toxin-producing enterobacteria.	C75545	Hemolytic Uremic Syndrome			C123272	Pediatric Nephrology Terminology	
C	C122804	Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome	WAGRO Syndrome	WAGRO|Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome|Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome	A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.	A condition resembling WAGR (Wilms tumor, aniridia, genitourinary anomalies and developmental delay) syndrome that also includes obesity. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13-p12 in a region containing the WT1, PAX6 and BDNF genes.	C3266	Hereditary Neoplastic Syndrome			C123272	Pediatric Nephrology Terminology	
C	C123186	Autosomal Dominant Hypophosphatemia Rickets	Autosomal Dominant Hypophosphatemic Rickets	Autosomal Dominant Vitamin D-resistant Rickets	An autosomal dominant renal phosphate wasting disorder that results in rickets.	Hypophosphatemic rickets due to heterozygous mutation(s) in the FGF23 gene, encoding fibroblast growth factor 23, a protein involved in phosphate homeostasis. The altered protein is resistant to cleavage, resulting in elevated FGF23 concentrations; the condition is characterized by isolated renal phosphate wasting, resulting in hypophosphatemia, accompanied by inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) concentrations.	C37977	Hypophosphatemia			C123272	Pediatric Nephrology Terminology	
C	C123187	Autosomal Recessive Hypophosphatemia Rickets	Autosomal Recessive Hypophosphatemic Rickets		An autosomal recessive renal phosphate wasting disorder that results in rickets.	Hypophosphatemic rickets due to inactivating mutation(s) in the DMP1 gene, encoding dentin matrix acidic phosphoprotein 1, or in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) levels.	C37977	Hypophosphatemia			C123272	Pediatric Nephrology Terminology	
C	C12326	Undescended Testes	Cryptorchidism	Undescended Testes|Undescended Testicle|Undescended Testis	The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.	The persistent failure of one or both testes to descend into the scrotum.	C103185	Congenital Reproductive System Abnormality	C27019	Male Reproductive System Disorder	C123272	Pediatric Nephrology Terminology	
C	C123260	Dent Disease	X-linked Recessive Hypophosphatemic Rickets	Dent Disease	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.	Hypophosphatemic rickets due to mutation(s) in the X-chromosomal CLCN5 gene, encoding H(+)/Cl(-) exchange transporter 5. This condition is expressed in male individuals hemizygous for the mutation(s), and in female individuals homozygous for the mutation(s). The disorder of the proximal renal tubules is characterized by low-molecular weight proteinuria, hypercalciuria, renal phosphate wasting, nephrocalcinosis, nephrolithiasis, progressive kidney failure, and elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.	C3101	Genetic Disorder			C123272	Pediatric Nephrology Terminology	
C	C3718	Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	WAGR Syndrome	11p Partial Monosomy Syndrome|Wilms Tumor, Aniridia, Genitourinary Anomalies and Developmental Delay 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.	A syndrome characterized by a predisposition for Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13 in a region containing the WT1 and PAX6 genes.	C2950	Chromosomal Abnormality			C123272	Pediatric Nephrology Terminology	
C	C113213	Hyperaldosteronism	Hyperaldosteronism	Aldosteronism	Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.	The condition that results from prolonged exposure to a supranormal concentration of aldosterone, characterized by hypertension, and may include hypokalemia.	C3009	Endocrine System Disorder	C36292	Laboratory Test Result	C123272	Pediatric Nephrology Terminology	
C	C118632	Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	Laurence-Moon Syndrome|Laurence-Moon-Bardet-Biedl Syndrome|Laurence-Moon-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.	A collection of autosomal recessive syndromes with similar phenotypes associated with mutations in at least one BBS gene. Clinical characteristics of this genetically heterogenous syndrome may include, but are not limited to, obesity, diabetes, hand anomalies, retinal dystrophy, genital anomalies, developmental delay, hypertension, and hypercholesterolemia.	C28193	Syndrome			C123272	Pediatric Nephrology Terminology	
C	C122805	Frasier Syndrome	Frasier Syndrome		A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma.	A Wilms tumor 1 gene syndrome caused by a mutation in an intron of the WT1 gene that removes an alternative splice site resulting in loss of one isoform of the Wilms tumor protein. This condition is characterized by focal segmental glomerulosclerosis, gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and a high risk for the development of gonadoblastoma.	C28193	Syndrome			C123272	Pediatric Nephrology Terminology	
C	C123251	Pseudohypoaldosteronism Type 1	Pseudohypoaldosteronism Type 1	PHA1B|Pseudohypoaldosteronism Type I Autosomal Recessive	A hereditary, heterogeneous disorder of electrolyte metabolism that is characterized by renal resistance to aldosterone action, resulting in salt wasting, hypotension, hyperkalemia, and metabolic acidosis.	An autosomal recessive condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the SCNN1A, SCNN1B, or SCNN1G genes encoding subunits of the epithelial sodium channel (ENaC).	C85034	Pseudohypoaldosteronism			C123272	Pediatric Nephrology Terminology	
C	C123262	Familial Hypocalciuric Hypercalcemia	Familial Hypocalciuric Hypercalcemia	Familial Benign Hypercalcemia	A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and hypocalciuria.	Familial hypocalciuric hypercalcemia types 1,2, and 3 are a group of autosomal dominant conditions due to loss of function mutation(s) of the CASR, GNA11, and AP2S1 genes, respectively. These genes encode the extracellular calcium-sensing receptor, the guanine nucleotide-binding protein subunit alpha-11, and the AP-2 complex subunit sigma. The condition is characterized by inappropriately low urinary calcium excretion and parathyroid hormone concentration in the presence of mild hypercalcemia.	C3101	Genetic Disorder			C123272	Pediatric Nephrology Terminology	
C	C3105	Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	Von Hippel-Lindau Disease	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	An autosomal dominant multiple neoplasia syndrome caused by germline mutations of the VHL gene, encoding the protein von Hippel-Lindau tumor suppressor (pVHL). The condition 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 (endolymphatic sac tumors).	C84348	Phakomatosis			C123272	Pediatric Nephrology Terminology	
C	C84668	Denys-Drash Syndrome	Denys-Drash Syndrome	Nephrotic Syndrome Type 4	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.	A Wilms tumor 1 gene syndrome caused by various point mutation(s) affecting the zinc finger(s) of the Wilms tumor protein. This syndrome is characterized by congenital nephropathy (diffuse mesangial sclerosis), gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and high risk for development of Wilms tumor, an embryonal neoplasm defined by the presence of epithelial, mesenchymal, and blastema components.	C28193	Syndrome			C123272	Pediatric Nephrology Terminology	
C	C84919	Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus		Diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone.	Diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone (vasopressin), which is caused by mutation(s) in the AVPR2 gene, encoding the vasopressin V2 receptor (antidiuretic hormone receptor), or by mutation(s) in the AQP2 gene, encoding aquaporin-2. Inheritance may by X-linked (AVPR2) or autosomal dominant or recessive (AQP2).	C43263	Diabetes Insipidus			C123272	Pediatric Nephrology Terminology	
C	C85232	Williams Syndrome	Williams Syndrome	Williams-Beuren Syndrome	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.	A syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes, and characterized by distinctive facial appearance (elfin facies), mild-to-moderate developmental delay, cheerfulness, cardiovascular dysfunction which may include supravalvular aortic stenosis, and endocrine abnormalities, including precocious puberty, hypothyroidism, and infantile hypercalcemia/ hypercalciuria.	C3101	Genetic Disorder			C123272	Pediatric Nephrology Terminology	
C	C75545	Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	HUS|Hemolytic-Uremic Syndrome	Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.	Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.	C26323	Hematologic Disorder			C123272	Pediatric Nephrology Terminology