MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Congenital myopathy with myasthenic-like onset

ORPHA:424107Disease
Autosomal recessive

Congenital myopathy with reduced type 2 muscle fibers

ORPHA:544602Disease
Autosomal recessive

Congenital myopathy, Paradas type

ORPHA:199329Disease
Autosomal recessive

Congenital myotonia

ORPHA:206973Clin. grp.

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 non-communicating hydrocephalus

ORPHA:269510Clin. sub.
Autosomal recessive

Congenital oculomotor nerve palsy

ORPHA:440221Disease
Not applicable

Congenital or early infantile CACH syndrome

ORPHA:157713Clin. sub.
Autosomal recessive

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772Malform.
Autosomal recessive

Congenital pancreatic cyst

ORPHA:313906Morph.
Unknown

Congenital panfollicular nevus

ORPHA:139414Disease

Congenital partial agenesis of pericardium

ORPHA:99130Morph.
Not applicable

Congenital partial pulmonary venous return anomaly

ORPHA:99124Morph.

Congenital patella dislocation

ORPHA:295036Morph.

Congenital pericardium anomaly

ORPHA:2846Cat.
Not applicable

Congenital plasminogen activator inhibitor type 1 deficiency

ORPHA:465Disease
Autosomal recessive

Congenital portosystemic shunt

ORPHA:480531Morph.

Congenital prekallikrein deficiency

ORPHA:749Disease
Autosomal recessive

Congenital primary aphakia

ORPHA:83461Malform.
Autosomal recessive

Congenital primary lymphedema of Gordon

ORPHA:569821Disease
Autosomal dominant

Congenital primary megaureter

ORPHA:617Morph.
Unknown

Congenital primary megaureter, nonrefluxing and unobstructed form

ORPHA:238654Clin. sub.
Unknown