MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Giant cell tumor of bone

ORPHA:363976Kr.
Not applicable

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

ORPHA:664438Malf.
Autosomal dominant

Gingival fibromatosis-facial dysmorphism syndrome

ORPHA:2025Malf.
Autosomal recessive

Gingival fibromatosis-hypertrichosis syndrome

ORPHA:2026Malf.
Autosomal dominant

Gingival fibromatosis-progressive deafness syndrome

ORPHA:2027Malf.
Autosomal dominant

Gitelman syndrome

ORPHA:358Kr.
Autosomal recessive

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

ORPHA:620371Kr.

Glanzmann thrombasthenia

ORPHA:849Kr.
Autosomal recessive

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

ORPHA:238763Malf.
Autosomal recessive

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

ORPHA:2084Malf.
Autosomal dominant

Glaucoma-sleep apnea syndrome

ORPHA:2085Kr.
Unknown

Glaucomatocyclitic crisis disease

ORPHA:636950Kr.

Glial tumor

ORPHA:182067Kl. gruppe

Glioblastoma

ORPHA:360Kr.
Multigenic/multifactorial, Not applicable

Glioependymal/ependymal cyst

ORPHA:269197Morph.

Gliomatosis cerebri

ORPHA:251582Kr.
Not applicable

Gliosarcoma

ORPHA:251576His. subt.
Not applicable

Global cerebellar malformation

ORPHA:269224Kat.

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

ORPHA:544488Kr.
Autosomal dominant

Global developmental delay-dental enamel defects-ataxia syndrome

ORPHA:714399Malf.
Autosomal dominant

Global developmental delay-high pain tolerance-intellectual disability syndrome

ORPHA:714385Kr.
Autosomal dominant

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

ORPHA:698085Malf.
Autosomal recessive

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

ORPHA:697067Malf.
Autosomal recessive

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

ORPHA:404476Malf.
Not applicable