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"

4 matching diseasesClear search ×

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

Combined deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined deficiency

ORPHA:35909

Combined deficiency of factor VII and factor X

ORPHA:600691

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

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

ORPHA:73272