MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Genetic non-syndromic obesity

ORPHA:98267Disease
Not applicable

Genetic recurrent myoglobinuria

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

Genetic transient congenital hypothyroidism

ORPHA:226316Disease
Autosomal recessive

Genochondromatosis type 1

ORPHA:85197Disease
Autosomal dominant

Genochondromatosis type 2

ORPHA:93398Disease

Gerstmann-Straussler-Scheinker syndrome

ORPHA:356Disease
Autosomal dominant, Not applicable

Gestational choriocarcinoma

ORPHA:99926Disease
Not applicable

Giant axonal neuropathy

ORPHA:643Disease
Autosomal recessive

Giant cell arteritis

ORPHA:397Disease
Multigenic/multifactorial

Giant cell tumor of bone

ORPHA:363976Disease
Not applicable

Gitelman syndrome

ORPHA:358Disease
Autosomal recessive

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

ORPHA:620371Disease

Glanzmann thrombasthenia

ORPHA:849Disease
Autosomal recessive

Glaucoma-sleep apnea syndrome

ORPHA:2085Disease
Unknown

Glaucomatocyclitic crisis disease

ORPHA:636950Disease

Glioblastoma

ORPHA:360Disease
Multigenic/multifactorial, Not applicable

Gliomatosis cerebri

ORPHA:251582Disease
Not applicable

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

ORPHA:544488Disease
Autosomal dominant

Global developmental delay-high pain tolerance-intellectual disability syndrome

ORPHA:714385Disease
Autosomal dominant

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

ORPHA:480898Disease
Autosomal dominant, Autosomal recessive

Glomus tumor

ORPHA:391651Disease

Glossopharyngeal neuralgia

ORPHA:221098Disease

Glucagonoma

ORPHA:97280Disease
Not applicable

Glucose-galactose malabsorption

ORPHA:35710Disease
Autosomal recessive