MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Genetic central precocious puberty in female

ORPHA:650077Kr.

Genetic central precocious puberty in male

ORPHA:650097Kl. subt.

Genetic congenital malformation of the eye with glaucoma as a major feature

ORPHA:525677Kat.

Genetic epilepsy with febrile seizure plus

ORPHA:36387Kr.
Autosomal dominant

Genetic hyperferritinemia without iron overload

ORPHA:254704Bio-An.
Autosomal dominant, Autosomal recessive

Genetic non-syndromic obesity

ORPHA:98267Kr.
Not applicable

Genetic peripheral neuropathy

ORPHA:98497Kat.

Genetic recurrent myoglobinuria

ORPHA:99845Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Genetic transient congenital hypothyroidism

ORPHA:226316Kr.
Autosomal recessive

Genitopalatocardiac syndrome

ORPHA:2075Malf.

Genitopatellar syndrome

ORPHA:85201Malf.
Autosomal dominant, Autosomal recessive

Genochondromatosis type 1

ORPHA:85197Kr.
Autosomal dominant

Genochondromatosis type 2

ORPHA:93398Kr.

Germ cell tumor

ORPHA:3399Kat.

German syndrome

ORPHA:2077Malf.
Autosomal recessive

Germinoma of the central nervous system

ORPHA:91352Kl. subt.
Not applicable

Geroderma osteodysplastica

ORPHA:2078Malf.
Autosomal recessive

Gerstmann-Straussler-Scheinker syndrome

ORPHA:356Kr.
Autosomal dominant, Not applicable

Gestational choriocarcinoma

ORPHA:99926Kr.
Not applicable

Gestational trophoblastic neoplasm

ORPHA:59305Kl. gruppe
Not applicable

Ghosal hematodiaphyseal dysplasia

ORPHA:1802Malf.
Autosomal recessive

Giant axonal neuropathy

ORPHA:643Kr.
Autosomal recessive

Giant cell arteritis

ORPHA:397Kr.
Multigenic/multifactorial

Giant cell glioblastoma

ORPHA:251579His. subt.
Not applicable