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"

5 matching diseasesClear search ×

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Passwell-Goodman-Siprkowski syndrome

ORPHA:2278

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

Friedman-Goodman syndrome · FACES syndrome

ORPHA:1969

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

ORPHA:65798

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

ORPHA:641385

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

ORPHA:169105