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 ×

PPARG-related familial partial lipodystrophy

FPLD3 · Familial partial lipodystrophy type 3

ORPHA:79083

Primary progressive aphasia

Mesulam syndrome · PPA

ORPHA:95432

Polymerase proofreading-related polyposis

Polymerase proofreading-related adenomatous polyposis · PPAP

ORPHA:447877

Primary progressive apraxia of speech

PPAOS

ORPHA:314566

Anomaly of the mitral subvalvular apparatus

ORPHA:101932

Anomaly of the tricuspid subvalvular apparatus

ORPHA:95463

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

ORPHA:320

OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system

ORPHA:98608

OBSOLETE: Secretory apparatus of the lacrimal system anomaly

ORPHA:98603

Rare disorder of the lacrimal apparatus

Rare lacrimal system disease

ORPHA:98602

Rare genetic disorder of the lacrimal apparatus

ORPHA:522532