MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Congenital unilateral hypoplasia of depressor anguli oris

ORPHA:1166Morph.
Autosomal dominant

Congenital urachal anomaly

ORPHA:435743Cat.

Congenital varicella syndrome

ORPHA:291Disease
Not applicable

Congenital velopharyngeal incompetence

ORPHA:2291Morph.
Autosomal dominant

Congenital vertebral-cardiac-renal anomalies syndrome

ORPHA:521438Malform.
Autosomal recessive

Congenital vertical talus

ORPHA:178382Morph.
Autosomal dominant

Congenital vertical talus, bilateral

ORPHA:295203Clin. sub.
Autosomal dominant

Congenital vertical talus, unilateral

ORPHA:295201Clin. sub.
Autosomal dominant

Congenital-onset Steinert myotonic dystrophy

ORPHA:589821Clin. sub.
Autosomal dominant

Congenitally corrected transposition of the great arteries

ORPHA:216694Morph.
Not applicable

Congenitally short costocoracoid ligament

ORPHA:2391Malform.
Autosomal dominant

Congenitally uncorrected transposition of the great arteries

ORPHA:860Morph.
Multigenic/multifactorial, Not applicable

Congenitally uncorrected transposition of the great arteries with cardiac malformation

ORPHA:216729Clin. sub.
Multigenic/multifactorial, Not applicable

Congenitally uncorrected transposition of the great arteries with coarctation

ORPHA:99042Clin. sub.
Multigenic/multifactorial, Not applicable

Conjunctival malignant melanoma

ORPHA:617910Disease

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

ORPHA:300284Disease
Not applicable

Cono-spondylar dysplasia

ORPHA:420794Malform.
Autosomal recessive

Constitutional dyserythropoietic anemia

ORPHA:293830Cat.

Constitutional megaloblastic anemia with severe neurologic disease

ORPHA:319651Disease
Autosomal recessive

Constitutional mismatch repair deficiency syndrome

ORPHA:252202Disease
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