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"

8 matching diseasesClear search ×

OBSOLETE: Familial flecked retinopathy

OBSOLETE: Hereditary flecked retinopathy

ORPHA:227786

Hereditary vascular retinopathy

HVR · Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome

ORPHA:71291

Neuroferritinopathy

Adult basal ganglia disease · Ferritin-related neurodegeneration

ORPHA:157846

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

ORPHA:1995

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

ORPHA:36382

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

ORPHA:140450

OBSOLETE: Isolated vitreoretinopathy

ORPHA:519304

OBSOLETE: Primary parathyroid hyperplasia

OBSOLETE: Familial parathyroid hyperplasia · OBSOLETE: Hereditary parathyroid hyperplasia

ORPHA:99878