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 ×

Oculogastrointestinal muscular dystrophy

Visceral myopathy-familial external ophthalmoplegia syndrome

ORPHA:1876

Congenital multicore myopathy with external ophthalmoplegia

ORPHA:98905

Familial visceral myopathy

Familial hollow visceral myopathy · Hereditary hollow visceral myopathy

ORPHA:2604

Macrostomia-preauricular tags-external ophthalmoplegia syndrome

ORPHA:83619

Progressive external ophthalmoplegia

ORPHA:520820

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

ORPHA:352447

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

Hamano-Tsukamoto syndrome

ORPHA:1217

Treft-Sanborn-Carey syndrome

Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome · Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome

ORPHA:3349