MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Congenital intrinsic factor deficiency

ORPHA:332Kr.
Autosomal recessive, Not applicable

Congenital isolated ACTH deficiency

ORPHA:199296Kr.
Autosomal recessive

Congenital isolated hyperinsulinism

ORPHA:657Kl. gruppe
Autosomal dominant, Autosomal recessive

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

ORPHA:495875Malf.
Autosomal recessive

Congenital lactase deficiency

ORPHA:53690Kr.
Autosomal recessive

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

ORPHA:70472Kr.
Autosomal recessive

Congenital laryngeal cyst

ORPHA:141124Morph.

Congenital laryngeal palsy

ORPHA:137932Malf.

Congenital laryngomalacia

ORPHA:2373Malf.

Congenital left ventricular aneurysm

ORPHA:1055Malf.

Congenital lethal erythroderma

ORPHA:1954Kr.
Autosomal recessive

Congenital lethal myopathy, Compton-North type

ORPHA:210163Kr.
Autosomal recessive

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

ORPHA:562528Malf.
Autosomal dominant

Congenital lipoid adrenal hyperplasia due to STAR deficency

ORPHA:90790Kr.
Autosomal recessive

Congenital lobar emphysema

ORPHA:1928Morph.
Not applicable

Congenital long QT syndrome

ORPHA:768Kl. gruppe
Autosomal dominant, Autosomal recessive

Congenital macroglossia

ORPHA:2430Malf.

Congenital megacalycosis

ORPHA:93109Morph.
Unknown

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

ORPHA:69063Kr.
Autosomal recessive

Congenital mesoblastic nephroma

ORPHA:2665Kr.

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

ORPHA:391376Kr.
Autosomal recessive

Congenital microcoria

ORPHA:566Malf.
Autosomal dominant

Congenital microgastria

ORPHA:199293Morph.

Congenital multicore myopathy with external ophthalmoplegia

ORPHA:98905Kl. subt.
Autosomal recessive