MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Genetic central precocious puberty in female

ORPHA:650077Disease

Genetic central precocious puberty in male

ORPHA:650097Clin. sub.

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

ORPHA:525677Cat.

Genetic epilepsy with febrile seizure plus

ORPHA:36387Disease
Autosomal dominant

Genetic hyperferritinemia without iron overload

ORPHA:254704Bio anom.
Autosomal dominant, Autosomal recessive

Genetic non-syndromic obesity

ORPHA:98267Disease
Not applicable

Genetic peripheral neuropathy

ORPHA:98497Cat.

Genetic recurrent myoglobinuria

ORPHA:99845Disease
Autosomal dominant, Autosomal recessive, Not applicable

Genetic transient congenital hypothyroidism

ORPHA:226316Disease
Autosomal recessive

Genitopalatocardiac syndrome

ORPHA:2075Malform.

Genitopatellar syndrome

ORPHA:85201Malform.
Autosomal dominant, Autosomal recessive

Genochondromatosis type 1

ORPHA:85197Disease
Autosomal dominant

Genochondromatosis type 2

ORPHA:93398Disease

Germ cell tumor

ORPHA:3399Cat.

German syndrome

ORPHA:2077Malform.
Autosomal recessive

Germinoma of the central nervous system

ORPHA:91352Clin. sub.
Not applicable

Geroderma osteodysplastica

ORPHA:2078Malform.
Autosomal recessive

Gerstmann-Straussler-Scheinker syndrome

ORPHA:356Disease
Autosomal dominant, Not applicable

Gestational choriocarcinoma

ORPHA:99926Disease
Not applicable

Gestational trophoblastic neoplasm

ORPHA:59305Clin. grp.
Not applicable

Ghosal hematodiaphyseal dysplasia

ORPHA:1802Malform.
Autosomal recessive

Giant axonal neuropathy

ORPHA:643Disease
Autosomal recessive

Giant cell arteritis

ORPHA:397Disease
Multigenic/multifactorial

Giant cell glioblastoma

ORPHA:251579Hist. sub.
Not applicable