Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

200 matching diseasesClear search ×

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

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

ORPHA:90793

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

ORPHA:90791

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency

ORPHA:95699

Congenital alpha2-antiplasmin deficiency

ORPHA:79

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

ORPHA:71278

Congenital deficiency in alpha-fetoprotein

ORPHA:168612

Congenital enterocyte heparan sulfate deficiency

ORPHA:103910

Congenital enteropathy due to enteropeptidase deficiency

Congenital enterokinase deficiency

ORPHA:168601