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"

9 matching diseasesClear search ×

Cerebroretinal vasculopathy

CRV · Grand-Kaine-Fulling syndrome

ORPHA:3421

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

ORPHA:2325

Furlong syndrome

Marfanoid habitus-craniosynostosis syndrome

ORPHA:97295

GRACILE syndrome

Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome

ORPHA:53693

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

ORPHA:79094

Grant syndrome

ORPHA:2097

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

ORPHA:100996

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

ORPHA:453499

Osteosclerotic bone dysplasia

Raine syndrome

ORPHA:1832