MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Giant cell tumor of bone

ORPHA:363976Ауру
Not applicable

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

ORPHA:664438Мальф.
Autosomal dominant

Gingival fibromatosis-facial dysmorphism syndrome

ORPHA:2025Мальф.
Autosomal recessive

Gingival fibromatosis-hypertrichosis syndrome

ORPHA:2026Мальф.
Autosomal dominant

Gingival fibromatosis-progressive deafness syndrome

ORPHA:2027Мальф.
Autosomal dominant

Gitelman syndrome

ORPHA:358Ауру
Autosomal recessive

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

ORPHA:620371Ауру

Glanzmann thrombasthenia

ORPHA:849Ауру
Autosomal recessive

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

ORPHA:238763Мальф.
Autosomal recessive

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

ORPHA:2084Мальф.
Autosomal dominant

Glaucoma-sleep apnea syndrome

ORPHA:2085Ауру
Unknown

Glaucomatocyclitic crisis disease

ORPHA:636950Ауру

Glial tumor

ORPHA:182067Клин. топ

Glioblastoma

ORPHA:360Ауру
Multigenic/multifactorial, Not applicable

Glioependymal/ependymal cyst

ORPHA:269197Морф.

Gliomatosis cerebri

ORPHA:251582Ауру
Not applicable

Gliosarcoma

ORPHA:251576Гист. под.
Not applicable

Global cerebellar malformation

ORPHA:269224Сан.

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

ORPHA:544488Ауру
Autosomal dominant

Global developmental delay-dental enamel defects-ataxia syndrome

ORPHA:714399Мальф.
Autosomal dominant

Global developmental delay-high pain tolerance-intellectual disability syndrome

ORPHA:714385Ауру
Autosomal dominant

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

ORPHA:698085Мальф.
Autosomal recessive

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

ORPHA:697067Мальф.
Autosomal recessive

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

ORPHA:404476Мальф.
Not applicable