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"

11 matching diseasesClear search ×

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Acquired partial lipodystrophy

Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy

ORPHA:79087

Alpers-Huttenlocher syndrome

Alpers progressive sclerosing poliodystrophy · Alpers syndrome

ORPHA:726

Camurati-Engelmann disease

Progressive diaphyseal dysplasia

ORPHA:1328

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

ORPHA:1490

Progressive cerebello-cerebral atrophy

PCCA

ORPHA:247198

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

ORPHA:1214

Progressive muscular atrophy

PMA

ORPHA:454706

Progressive muscular dystrophy

ORPHA:206644

Progressive retinal dystrophy due to retinol transport defect

Retinol dystrophy-iris coloboma-comedogenic acne syndrome

ORPHA:352718