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 ×

X-linked hypohidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome · XHED

ORPHA:181

Christianson syndrome

X-linked Angelman-like syndrome

ORPHA:85278

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

ORPHA:1808

Incontinentia pigmenti

Bloch-Siemens syndrome · Bloch-Sulzberger syndrome

ORPHA:464

Osteosclerotic bone dysplasia

Raine syndrome

ORPHA:1832

Pachydermoperiostosis

PDP · Touraine-Solente-Gole syndrome

ORPHA:2796

Pseudoxanthoma elasticum

Gronblad-Strandberg-Touraine syndrome · PXE

ORPHA:758

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436