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"

18 matching diseasesClear search ×

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

ORPHA:2213

Antley-Bixler syndrome

ORPHA:83

Christianson syndrome

X-linked Angelman-like syndrome

ORPHA:85278

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

ORPHA:2554

Faciocardiorenal syndrome

Eastman-Bixler syndrome

ORPHA:1973

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

ORPHA:2092

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

ORPHA:2795

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

ORPHA:377

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

ORPHA:2095

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

ORPHA:1808

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

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

ORPHA:2250

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

ORPHA:1816

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

Oculomaxillofacial dysostosis

Richieri-Costa-Gorlin syndrome

ORPHA:1794

Radiculomegaly of canine teeth- congenital cataract

Marashi-Gorlin syndrome

ORPHA:3013

Short tarsus-absence of lower eyelashes syndrome

Lopes-Gorlin syndrome

ORPHA:2832

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436