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"

7 matching diseasesClear search ×

Growth delay-hydrocephaly-lung hypoplasia syndrome

Game-Friedman-Paradice syndrome

ORPHA:3035

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

ORPHA:1969

Fried syndrome

ORPHA:85335

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

ORPHA:65798

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

ORPHA:2055

Neuroectodermal-endocrine syndrome

Oerter-Friedman-Anderson syndrome

ORPHA:2676

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

ORPHA:2825