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"

7 matching diseasesClear search ×

Horizontal gaze palsy with progressive scoliosis

HGPPS · Progressive external ophthalmoplegia and scoliosis

ORPHA:2744

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset CPEO with mitochondrial myopathy

ORPHA:329336

Autosomal dominant progressive external ophthalmoplegia

adPEO

ORPHA:254892

Autosomal recessive progressive external ophthalmoplegia

arPEO

ORPHA:254886

Mitochondrial DNA-related progressive external ophthalmoplegia

Maternally-inherited CPEO · Maternally-inherited chronic progressive external ophthalmoplegia

ORPHA:663

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