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

Genetic non-syndromic obesity

ORPHA:98267Kr.
Not applicable

Genetic recurrent myoglobinuria

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

Genetic transient congenital hypothyroidism

ORPHA:226316Kr.
Autosomal recessive

Genochondromatosis type 1

ORPHA:85197Kr.
Autosomal dominant

Genochondromatosis type 2

ORPHA:93398Kr.

Gerstmann-Straussler-Scheinker syndrome

ORPHA:356Kr.
Autosomal dominant, Not applicable

Gestational choriocarcinoma

ORPHA:99926Kr.
Not applicable

Giant axonal neuropathy

ORPHA:643Kr.
Autosomal recessive

Giant cell arteritis

ORPHA:397Kr.
Multigenic/multifactorial

Giant cell tumor of bone

ORPHA:363976Kr.
Not applicable

Gitelman syndrome

ORPHA:358Kr.
Autosomal recessive

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

ORPHA:620371Kr.

Glanzmann thrombasthenia

ORPHA:849Kr.
Autosomal recessive

Glaucoma-sleep apnea syndrome

ORPHA:2085Kr.
Unknown

Glaucomatocyclitic crisis disease

ORPHA:636950Kr.

Glioblastoma

ORPHA:360Kr.
Multigenic/multifactorial, Not applicable

Gliomatosis cerebri

ORPHA:251582Kr.
Not applicable

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

ORPHA:544488Kr.
Autosomal dominant

Global developmental delay-high pain tolerance-intellectual disability syndrome

ORPHA:714385Kr.
Autosomal dominant

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

ORPHA:480898Kr.
Autosomal dominant, Autosomal recessive

Glomus tumor

ORPHA:391651Kr.

Glossopharyngeal neuralgia

ORPHA:221098Kr.

Glucagonoma

ORPHA:97280Kr.
Not applicable

Glucose-galactose malabsorption

ORPHA:35710Kr.
Autosomal recessive