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 ×

Pachydermoperiostosis

PDP · Touraine-Solente-Gole syndrome

ORPHA:2796

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

ORPHA:2092

Frontofacionasal dysplasia

Gollop syndrome

ORPHA:1791

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

ORPHA:1454

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

ORPHA:3313

Osteosclerotic bone dysplasia

Raine syndrome

ORPHA:1832

Pseudoxanthoma elasticum

Gronblad-Strandberg-Touraine syndrome · PXE

ORPHA:758

X-linked hypohidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome · XHED

ORPHA:181