MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Congenital intrinsic factor deficiency

ORPHA:332Disease
Autosomal recessive, Not applicable

Congenital isolated ACTH deficiency

ORPHA:199296Disease
Autosomal recessive

Congenital isolated hyperinsulinism

ORPHA:657Clin. grp.
Autosomal dominant, Autosomal recessive

Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

ORPHA:495875Malform.
Autosomal recessive

Congenital lactase deficiency

ORPHA:53690Disease
Autosomal recessive

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

ORPHA:70472Disease
Autosomal recessive

Congenital laryngeal cyst

ORPHA:141124Morph.

Congenital laryngeal palsy

ORPHA:137932Malform.

Congenital laryngomalacia

ORPHA:2373Malform.

Congenital left ventricular aneurysm

ORPHA:1055Malform.

Congenital lethal erythroderma

ORPHA:1954Disease
Autosomal recessive

Congenital lethal myopathy, Compton-North type

ORPHA:210163Disease
Autosomal recessive

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528Malform.
Autosomal dominant

Congenital lipoid adrenal hyperplasia due to STAR deficency

ORPHA:90790Disease
Autosomal recessive

Congenital lobar emphysema

ORPHA:1928Morph.
Not applicable

Congenital long QT syndrome

ORPHA:768Clin. grp.
Autosomal dominant, Autosomal recessive

Congenital macroglossia

ORPHA:2430Malform.

Congenital megacalycosis

ORPHA:93109Morph.
Unknown

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

ORPHA:69063Disease
Autosomal recessive

Congenital mesoblastic nephroma

ORPHA:2665Disease

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

ORPHA:391376Disease
Autosomal recessive

Congenital microcoria

ORPHA:566Malform.
Autosomal dominant

Congenital microgastria

ORPHA:199293Morph.

Congenital multicore myopathy with external ophthalmoplegia

ORPHA:98905Clin. sub.
Autosomal recessive