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"

10 matching diseasesClear search ×

Osteopenia-intellectual disability-sparse hair syndrome

Kaler-Garrity-Stern syndrome

ORPHA:2324

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

ORPHA:2325

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

ORPHA:2067

Gardner syndrome

ORPHA:79665

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

ORPHA:478

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

ORPHA:2908

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

ORPHA:85146

Steel syndrome

Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

ORPHA:438117

Stickler syndrome

Hereditary progressive arthroophthalmopathy

ORPHA:828

Stimmler syndrome

ORPHA:3199