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 ×

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

ORPHA:33577

Cardiocranial syndrome, Pfeiffer type

Craniosynostosis-congenital heart disease-intellectual disability syndrome · Pfeiffer-Singer-Zschiesche syndrome

ORPHA:2872

Christianson syndrome

X-linked Angelman-like syndrome

ORPHA:85278

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome

ORPHA:3224

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

ORPHA:1808

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

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

ORPHA:2634

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome

ORPHA:2621

Parkes Weber syndrome

ORPHA:90307

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

ORPHA:710

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

ORPHA:93258

Pfeiffer syndrome type 2

ORPHA:93259

Pfeiffer syndrome type 3

ORPHA:93260

Pfeiffer-Palm-Teller syndrome

ORPHA:2871

Preaxial polydactyly-colobomata-intellectual disability syndrome

Pfeiffer-Mayer syndrome

ORPHA:2921

Sturge-Weber syndrome

Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis

ORPHA:3205

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436