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 myopathy, Paradas type

ORPHA:199329Kr.
Autosomal recessive

Congenital nephrotic syndrome, Finnish type

ORPHA:839Kr.
Autosomal recessive

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

ORPHA:619941Kr.
Autosomal recessive

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

ORPHA:369852Kr.
Autosomal recessive

Congenital oculomotor nerve palsy

ORPHA:440221Kr.
Not applicable

Congenital panfollicular nevus

ORPHA:139414Kr.

Congenital plasminogen activator inhibitor type 1 deficiency

ORPHA:465Kr.
Autosomal recessive

Congenital prekallikrein deficiency

ORPHA:749Kr.
Autosomal recessive

Congenital primary lymphedema of Gordon

ORPHA:569821Kr.
Autosomal dominant

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

ORPHA:508542Kr.
Autosomal recessive

Congenital pseudoarthrosis of the clavicle

ORPHA:66630Kr.
Not applicable

Congenital ptosis

ORPHA:91411Kr.
Autosomal dominant, X-linked recessive

Congenital pulmonary lymphangiectasia

ORPHA:2414Kr.
Autosomal recessive

Congenital renal artery stenosis

ORPHA:97598Kr.

Congenital reticular ichthyosiform erythroderma

ORPHA:281190Kr.
Autosomal dominant

Congenital rubella syndrome

ORPHA:290Kr.
Not applicable

Congenital short QT syndrome

ORPHA:51083Kr.
Autosomal dominant

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

ORPHA:369861Kr.
Autosomal recessive

Congenital smooth muscle hamartoma

ORPHA:263435Kr.
Not applicable

Congenital sodium diarrhea

ORPHA:103908Kr.
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Riggs type

ORPHA:714096Kr.
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714090Kr.
Autosomal recessive, X-linked recessive

Congenital stromal corneal dystrophy

ORPHA:101068Kr.
Autosomal dominant

Congenital sucrase-isomaltase deficiency

ORPHA:35122Kr.
Autosomal recessive