MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
303 diseases matched (Morph.) Reset

Congenital esophageal stenosis

ORPHA:645749Morph.

Congenital hereditary facial paralysis-variable hearing loss syndrome

ORPHA:306530Morph.
Autosomal recessive

Congenital laryngeal cyst

ORPHA:141124Morph.

Congenital lobar emphysema

ORPHA:1928Morph.
Not applicable

Congenital megacalycosis

ORPHA:93109Morph.
Unknown

Congenital microgastria

ORPHA:199293Morph.

Congenital pancreatic cyst

ORPHA:313906Morph.
Unknown

Congenital partial agenesis of pericardium

ORPHA:99130Morph.
Not applicable

Congenital partial pulmonary venous return anomaly

ORPHA:99124Morph.

Congenital patella dislocation

ORPHA:295036Morph.

Congenital portosystemic shunt

ORPHA:480531Morph.

Congenital primary megaureter

ORPHA:617Morph.
Unknown

Congenital pulmonary valvar stenosis

ORPHA:3189Morph.
Multigenic/multifactorial, Not applicable

Congenital respiratory-biliary fistula

ORPHA:2040Morph.
Not applicable

Congenital retinal arteriovenous communication

ORPHA:353334Morph.

Congenital short bowel syndrome

ORPHA:2301Morph.
Autosomal recessive, X-linked recessive

Congenital total pulmonary venous return anomaly

ORPHA:99125Morph.
Not applicable

Congenital tracheal stenosis

ORPHA:141127Morph.
Not applicable

Congenital tracheomalacia

ORPHA:95430Morph.
No data available

Congenital tricuspid stenosis

ORPHA:95459Morph.

Congenital tricuspid valve dysplasia

ORPHA:555874Morph.

Congenital unilateral hypoplasia of depressor anguli oris

ORPHA:1166Morph.
Autosomal dominant

Congenital velopharyngeal incompetence

ORPHA:2291Morph.
Autosomal dominant

Congenital vertical talus

ORPHA:178382Morph.
Autosomal dominant