Rare Disease Library

Giant cell glioblastoma

GBM · Glioblastoma multiforme

Giant cell tumor of bone

Osteoclastoma · GCT of bone

Giant omphalocele

Major omphalocele

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

Liang-Wang syndrome

Gingival fibromatosis-facial dysmorphism syndrome

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Gitelman syndrome

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

Gitelman-like kidney tubulopathy due to mtDNA mutation

GJC2-related late-onset primary lymphedema

Glanders

Equinia · Burkholderia mallei infection

Glanzmann thrombasthenia

Glassy cell carcinoma of the cervix uteri

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

Megalocornea-spherophakia-secondary glaucoma syndrome

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

GEMSS syndrome

Glaucoma-sleep apnea syndrome

Glaucomatocyclitic crisis disease

Posner-Schlossman syndrome

Glial tumor

Glioma

Glial tumor of neuroepithelial tissue with unknown origin

Glioblastoma

GBM · Glioblastoma multiforme

Glioependymal/ependymal cyst

Gliomatosis cerebri

Gliosarcoma

Global cerebellar malformation

Diffuse cerebellar malformation

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

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

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

TMEM147-related neurodevelopmental disorder

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

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

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

GLOW syndrome

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

Global developmental delay-osteopenia-ectodermal defect syndrome

Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome

ZNF148-related neurodevelopmental disorder

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

Glomerular disease

Glomerulonephritis-sparse hair-telangiectasis syndrome

Glomus tumor

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

Glossopalatine ankylosis

Cosack syndrome

Glossopharyngeal neuralgia

Glucagonoma

Glucagonoma syndrome

Gluconeogenesis disorder

Glucose transport disorder

Glucose-galactose malabsorption

CGGM · Congenital glucose-galactose malabsorption

Glutamate-cysteine ligase deficiency

Gamma-glutamylcysteine synthetase deficiency

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

Glutathione synthetase deficiency

Pyroglutamicaciduria

Glutathione synthetase deficiency with 5-oxoprolinuria

Glutathione synthetase deficiency without 5-oxoprolinuria