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 ×

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Bosma-Henkin-Christiansen syndrome · Bosma arhinia-microphthalmia syndrome

ORPHA:2250

Christianson syndrome

X-linked Angelman-like syndrome

ORPHA:85278

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

ORPHA:1808

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

ORPHA:2213

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

ORPHA:33577

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome

ORPHA:2621

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Chung-Jansen syndrome · DIDOD

ORPHA:589905

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436