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"

14 matching diseasesClear search ×

Congenital amyoplasia

Amyoplasia congenita

ORPHA:488586

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

ORPHA:595337

Aplasia cutis congenita

ORPHA:1114

Congenital adrenal hyperplasia

CAH

ORPHA:418

Congenital aortic valve dysplasia

ORPHA:101043

Congenital myopathy

ORPHA:97245

Congenital myotonia

ORPHA:206973

Congenital renal artery stenosis

Congenital renovascular hypoplasia

ORPHA:97598

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

ORPHA:858

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

ORPHA:79133

Paramyotonia congenita of Von Eulenburg

Paramyotonia congenita

ORPHA:684

Thomsen and Becker disease

Myotonia congenita

ORPHA:614

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC

ORPHA:95702