Rare Disease Library

Congenital renal artery stenosis

Congenital renovascular hypoplasia

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

Congenital adrenal hyperplasia

CAH

Congenital amyoplasia

Amyoplasia congenita

Congenital vascular bone syndrome

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

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

OBSOLETE: Congenital adrenal hypoplasia of maternal cause

Renal hypoplasia

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC