Rare Disease Library

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

OBSOLETE: Congenital adrenal hypoplasia of maternal cause

Aplasia cutis congenita

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Classic 21-OHD CAH

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

Congenital adrenal hyperplasia

CAH

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency

Congenital amyoplasia

Amyoplasia congenita

Congenital analbuminemia

Congenital aortic valve dysplasia

Congenital atransferrinemia

Congenital hypotransferrinemia

Congenital hypothyroidism

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital insensitivity to pain with hyperhidrosis · Congenital absence of pain with hyperhidrosis

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

Congenital renal artery stenosis

Congenital renovascular hypoplasia

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital unilateral hypoplasia of depressor anguli oris

Isolated asymmetric crying facies

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

Familial adrenal hypoplasia with absent pituitary LH · Familial adrenal hypoplasia, miniature type

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

Isolated congenital hypoglossia

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-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral

OBSOLETE: Thumb hypodactyly, bilateral · OBSOLETE: Thumb oligodactyly, bilateral

OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral

OBSOLETE: Thumb hypodactyly, unilateral · OBSOLETE: Thumb oligodactyly, unilateral

OBSOLETE: Congenital unilateral pulmonary hypoplasia

Renal hypoplasia

Renal hypoplasia, bilateral

Renal hypoplasia, unilateral

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC