Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Also known as: 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome, XY sex reversal-adrenal failure, XY sex reversal-adrenal failure syndrome, adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete, adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, cholesterol side-chain cleavage deficiency, p450scc deficiency

congenital anomalies of kidney and urinary tract 1

Also known as: CAKUT1, DSTYK congenital anomaly of kidney and urinary tract, congenital anomalies of kidney and urinary tract 1, congenital anomaly of kidney and urinary tract caused by mutation in DSTYK, renal hypodysplasia, nonsyndromic, 1

congenital anomalies of kidney and urinary tract 2

Also known as: CAKUT2, TBX18 congenital anomaly of kidney and urinary tract, congenital anomalies of kidney and urinary tract 2, congenital anomalies of kidney and urinary tract type 2, congenital anomaly of kidney and urinary tract caused by mutation in TBX18, hydronephrosis due to Pujo, multicystic renal dysplasia, bilateral, pelviureteric junction obstruction, ureteropelvic junction obstruction

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