MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Giant cell tumor of bone

ORPHA:363976Disease
Not applicable

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

ORPHA:664438Malform.
Autosomal dominant

Gingival fibromatosis-facial dysmorphism syndrome

ORPHA:2025Malform.
Autosomal recessive

Gingival fibromatosis-hypertrichosis syndrome

ORPHA:2026Malform.
Autosomal dominant

Gingival fibromatosis-progressive deafness syndrome

ORPHA:2027Malform.
Autosomal dominant

Gitelman syndrome

ORPHA:358Disease
Autosomal recessive

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

ORPHA:620371Disease

Glanzmann thrombasthenia

ORPHA:849Disease
Autosomal recessive

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

ORPHA:238763Malform.
Autosomal recessive

Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

ORPHA:2084Malform.
Autosomal dominant

Glaucoma-sleep apnea syndrome

ORPHA:2085Disease
Unknown

Glaucomatocyclitic crisis disease

ORPHA:636950Disease

Glial tumor

ORPHA:182067Clin. grp.

Glioblastoma

ORPHA:360Disease
Multigenic/multifactorial, Not applicable

Glioependymal/ependymal cyst

ORPHA:269197Morph.

Gliomatosis cerebri

ORPHA:251582Disease
Not applicable

Gliosarcoma

ORPHA:251576Hist. sub.
Not applicable

Global cerebellar malformation

ORPHA:269224Cat.

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

ORPHA:544488Disease
Autosomal dominant

Global developmental delay-dental enamel defects-ataxia syndrome

ORPHA:714399Malform.
Autosomal dominant

Global developmental delay-high pain tolerance-intellectual disability syndrome

ORPHA:714385Disease
Autosomal dominant

Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

ORPHA:698085Malform.
Autosomal recessive

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

ORPHA:697067Malform.
Autosomal recessive

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

ORPHA:404476Malform.
Not applicable