MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Congenital subglottic stenosis

ORPHA:141121Malform.

Congenital vertebral-cardiac-renal anomalies syndrome

ORPHA:521438Malform.
Autosomal recessive

Congenitally short costocoracoid ligament

ORPHA:2391Malform.
Autosomal dominant

Cono-spondylar dysplasia

ORPHA:420794Malform.
Autosomal recessive

Contractures-developmental delay-Pierre Robin syndrome

ORPHA:436003Malform.
Unknown

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1484Malform.
Autosomal recessive, X-linked recessive

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

ORPHA:314002Malform.
No data available

Cooks syndrome

ORPHA:1487Malform.
Autosomal dominant

Cooper-Jabs syndrome

ORPHA:1488Malform.
Autosomal recessive

Corneal dystrophy-perceptive deafness syndrome

ORPHA:1490Malform.
Autosomal recessive

Cornelia de Lange syndrome

ORPHA:199Malform.
Autosomal dominant, Not applicable, X-linked recessive

Corneodermatoosseous syndrome

ORPHA:3194Malform.
Autosomal dominant

Corpus callosum agenesis-abnormal genitalia syndrome

ORPHA:2508Malform.
X-linked recessive

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

ORPHA:52055Malform.
X-linked recessive

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

ORPHA:459074Malform.
Unknown

Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389Malform.
Autosomal recessive

Costello syndrome

ORPHA:3071Malform.
Autosomal dominant, Not applicable

Coxoauricular syndrome

ORPHA:1508Malform.
Unknown

Crane-Heise syndrome

ORPHA:1512Malform.
Autosomal recessive

Cranio-osteoarthropathy

ORPHA:1525Malform.
Autosomal recessive

Craniodiaphyseal dysplasia

ORPHA:1513Malform.
Autosomal dominant, Autosomal recessive, Not applicable

Craniodigital-intellectual disability syndrome

ORPHA:1514Malform.
Autosomal recessive, X-linked recessive

Cranioectodermal dysplasia

ORPHA:1515Malform.
Autosomal recessive

Craniofacial conodysplasia

ORPHA:85168Malform.
Autosomal dominant