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"

6 matching diseasesClear search ×

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

ORPHA:73272

Congenital factor X deficiency

Congenital Stuart factor deficiency · Stuart-Prower factor deficiency

ORPHA:328

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

ORPHA:332

Growth delay due to insulin-like growth factor I resistance

Resistance to IGF-1

ORPHA:73273

Lipodystrophy due to peptidic growth factors deficiency

Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency · Hoepffner-Dreyer-Reimers syndrome

ORPHA:1979

Primary CD59 deficiency

ORPHA:169464