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"

200 matching diseasesClear search ×

Congenital myopathy with excess of thin filaments

Actin myopathy

ORPHA:98904

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome

ORPHA:1547

Early-onset autosomal recessive TTN-related distal myopathy

Young or early adult onset recessive distal titinopathy

ORPHA:707983

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

ORPHA:708014

Epilepsy with myoclonic absences

ORPHA:86911

Excess breast volume or number

ORPHA:180170

Incessant infant ventricular tachycardia

ORPHA:45453

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 6 · SCAR6

ORPHA:284332