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"

11 matching diseasesClear search ×

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

ORPHA:595337

Aplasia cutis congenita

ORPHA:1114

Congenital adrenal hyperplasia

CAH

ORPHA:418

Congenital amyoplasia

Amyoplasia congenita

ORPHA:488586

Congenital renal artery stenosis

Congenital renovascular hypoplasia

ORPHA:97598

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

ORPHA:79133

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

ORPHA:180188

Primary acquired pure red cell aplasia

Primary acquired PRCA

ORPHA:98872

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

ORPHA:83471

Transient erythroblastopenia of childhood

Transient acquired pure red cell aplasia

ORPHA:98871