MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Congenital myopathy, Paradas type

ORPHA:199329Disease
Autosomal recessive

Congenital nephrotic syndrome, Finnish type

ORPHA:839Disease
Autosomal recessive

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

ORPHA:619941Disease
Autosomal recessive

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

ORPHA:369852Disease
Autosomal recessive

Congenital oculomotor nerve palsy

ORPHA:440221Disease
Not applicable

Congenital panfollicular nevus

ORPHA:139414Disease

Congenital plasminogen activator inhibitor type 1 deficiency

ORPHA:465Disease
Autosomal recessive

Congenital prekallikrein deficiency

ORPHA:749Disease
Autosomal recessive

Congenital primary lymphedema of Gordon

ORPHA:569821Disease
Autosomal dominant

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

ORPHA:508542Disease
Autosomal recessive

Congenital pseudoarthrosis of the clavicle

ORPHA:66630Disease
Not applicable

Congenital ptosis

ORPHA:91411Disease
Autosomal dominant, X-linked recessive

Congenital pulmonary lymphangiectasia

ORPHA:2414Disease
Autosomal recessive

Congenital renal artery stenosis

ORPHA:97598Disease

Congenital reticular ichthyosiform erythroderma

ORPHA:281190Disease
Autosomal dominant

Congenital rubella syndrome

ORPHA:290Disease
Not applicable

Congenital short QT syndrome

ORPHA:51083Disease
Autosomal dominant

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

ORPHA:369861Disease
Autosomal recessive

Congenital smooth muscle hamartoma

ORPHA:263435Disease
Not applicable

Congenital sodium diarrhea

ORPHA:103908Disease
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Riggs type

ORPHA:714096Disease
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714090Disease
Autosomal recessive, X-linked recessive

Congenital stromal corneal dystrophy

ORPHA:101068Disease
Autosomal dominant

Congenital sucrase-isomaltase deficiency

ORPHA:35122Disease
Autosomal recessive