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 ×

Radioulnar synostosis-microcephaly-scoliosis syndrome

Giuffré-Tsukahara syndrome · Tsukahara syndrome

ORPHA:3268

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

ORPHA:1934

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

ORPHA:3387

MERRF

Fukuhara syndrome · Myoclonus epilepsy associated with ragged-red fibres

ORPHA:551

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

ORPHA:2905

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

Hamano-Tsukamoto syndrome

ORPHA:1217

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

ORPHA:66529