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 ×

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

ORPHA:1214

Hemifacial hyperplasia

Hemifacial hypertrophy

ORPHA:141145

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Progressive bifocal chorioretinal atrophy

CRAPB · PBCRA

ORPHA:75373

Progressive cerebello-cerebral atrophy

PCCA

ORPHA:247198

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Progressive muscular atrophy

PMA

ORPHA:454706

Progressive muscular dystrophy

ORPHA:206644