MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Congenital fiber-type disproportion myopathy

ORPHA:2020Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital fibrinogen deficiency

ORPHA:335Kr.
Autosomal dominant, Autosomal recessive

Congenital fibrosis of extraocular muscles

ORPHA:45358Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Congenital generalized hypercontractile muscle stiffness syndrome

ORPHA:476406Kr.
Autosomal dominant, Not applicable

Congenital generalized lipodystrophy

ORPHA:528Kr.
Autosomal recessive

Congenital glaucoma

ORPHA:98976Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Congenital glucokinase-related hyperinsulinism

ORPHA:79299Kr.
Autosomal dominant

Congenital heart block

ORPHA:60041Kr.
Not applicable

Congenital hereditary endothelial dystrophy type II

ORPHA:293603Kr.
Autosomal recessive

Congenital herpes simplex virus infection

ORPHA:293Kr.
Not applicable

Congenital high-molecular-weight kininogen deficiency

ORPHA:483Kr.
Autosomal recessive

Congenital hyperinsulinism due to HNF4A deficiency

ORPHA:263455Kr.
Autosomal dominant

Congenital hypothyroidism due to maternal intake of antithyroid drugs

ORPHA:226313Kr.

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

ORPHA:95715Kr.
Not applicable

Congenital ichthyosiform erythroderma

ORPHA:79394Kr.
Autosomal recessive

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ORPHA:352333Kr.
Autosomal recessive

Congenital ichthyosis-microcephalus-tetraplegia syndrome

ORPHA:2271Kr.
Unknown

Congenital infiltrating lipomatosis of the face

ORPHA:583097Kr.

Congenital insensitivity to pain syndrome, Marsili type

ORPHA:653728Kr.
Autosomal dominant

Congenital insensitivity to pain with severe intellectual disability

ORPHA:453510Kr.
Autosomal recessive

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

ORPHA:88642Kr.
Autosomal dominant, Autosomal recessive

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

ORPHA:217399Kr.
Unknown

Congenital intrinsic factor deficiency

ORPHA:332Kr.
Autosomal recessive, Not applicable

Congenital isolated ACTH deficiency

ORPHA:199296Kr.
Autosomal recessive