Rare Disease Library

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

Congenital adrenal hyperplasia

CAH

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency

Congenital amyoplasia

Amyoplasia congenita

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

Congenital renal artery stenosis

Congenital renovascular hypoplasia

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital hypoglossia/aglossia

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

OBSOLETE: Congenital adrenal hypoplasia of maternal cause

Renal hypoplasia

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

X-linked congenital generalized hypertrichosis

Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome

X-linked severe congenital neutropenia