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"

12 matching diseasesClear search ×

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

ORPHA:1808

Christianson syndrome

X-linked Angelman-like syndrome

ORPHA:85278

Foix-Chavany-Marie syndrome

Bilateral anterior opercular syndrome · Facio-pharyngo-glosso-masticatory diplegia

ORPHA:2048

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

ORPHA:2795

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

ORPHA:2213

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

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

ORPHA:2250

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

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

ORPHA:54247

X-linked hypohidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome · XHED

ORPHA:181

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436