46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
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(Orphanet:168558)
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ADRENAL HYPOPLASIA, CONGENITAL
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(OMIM:300200)
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Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
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(Orphanet:34149)
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BARTTER SYNDROME, ANTENATAL, TYPE 1
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(OMIM:601678)
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BARTTER SYNDROME, ANTENATAL, TYPE 2
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(OMIM:241200)
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BARTTER SYNDROME, TYPE 4A
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(OMIM:602522)
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BARTTER SYNDROME, TYPE 4B
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(OMIM:613090)
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Bartter syndrome
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(Orphanet:112)
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CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
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(OMIM:203400)
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CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
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(OMIM:610600)
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Classic Bartter syndrome
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(Orphanet:93605)
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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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(Orphanet:90794)
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Congenital adrenal hyperplasia
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(Orphanet:418)
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Congenital lipoid adrenal hyperplasia due to STAR deficency
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(Orphanet:90790)
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Cytomegalic congenital adrenal hypoplasia
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(Orphanet:95702)
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EAST syndrome
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(Orphanet:199343)
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Familial hypoaldosteronism
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(Orphanet:427)
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Generalized pseudohypoaldosteronism type 1
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(Orphanet:171876)
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Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
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(Orphanet:363694)
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Infantile Bartter syndrome with deafness
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(Orphanet:89938)
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MEDULLARY CYSTIC KIDNEY DISEASE 1
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(OMIM:174000)
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