MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

ORPHA:521432Kr.
Autosomal recessive

Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:48431Malf.
Autosomal recessive

Congenital central hypoventilation syndrome

ORPHA:661Kr.
Autosomal dominant, Not applicable

Congenital cerebellar ataxia due to RNU12 mutation

ORPHA:512260Kr.
Autosomal recessive

Congenital cervical spinal stenosis

ORPHA:831Kr.

Congenital chloride diarrhea

ORPHA:53689Kr.
Autosomal recessive

Congenital chronic diarrhea with protein-losing enteropathy

ORPHA:329242Kr.
Autosomal recessive

Congenital chylothorax

ORPHA:264688Kr.
Not applicable, Unknown

Congenital communicating hydrocephalus

ORPHA:269505Kl. subt.
Autosomal recessive

Congenital complete agenesis of pericardium

ORPHA:99129Morph.
Not applicable

Congenital contractural arachnodactyly

ORPHA:115Malf.
Autosomal dominant

Congenital cornea plana

ORPHA:53691Morph.
Autosomal dominant, Autosomal recessive

Congenital cystic eye

ORPHA:519384Morph.

Congenital deficiency in alpha-fetoprotein

ORPHA:168612Bio-An.
Autosomal recessive

Congenital diaphragmatic hernia

ORPHA:2140Morph.
Multigenic/multifactorial, Not applicable

Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome

ORPHA:714487Kr.
Autosomal recessive

Congenital disorder of glycosylation

ORPHA:137Kat.
Autosomal recessive, X-linked recessive

Congenital dyserythropoietic anemia

ORPHA:85Kl. gruppe
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital dyserythropoietic anemia type I

ORPHA:98869Kr.
Autosomal recessive

Congenital dyserythropoietic anemia type II

ORPHA:98873Kr.
Autosomal recessive

Congenital dyserythropoietic anemia type III

ORPHA:98870Kr.
Autosomal dominant, Autosomal recessive

Congenital dyserythropoietic anemia type IV

ORPHA:293825Kr.
Autosomal dominant

Congenital ectropion uveae

ORPHA:91491Malf.

Congenital enterocyte heparan sulfate deficiency

ORPHA:103910Kr.