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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Giant cell tumor of bone

ORPHA:363976Заболевание
Not applicable

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

ORPHA:664438Порок
Autosomal dominant

Gingival fibromatosis-facial dysmorphism syndrome

ORPHA:2025Порок
Autosomal recessive

Gingival fibromatosis-hypertrichosis syndrome

ORPHA:2026Порок
Autosomal dominant

Gingival fibromatosis-progressive deafness syndrome

ORPHA:2027Порок
Autosomal dominant

Gitelman syndrome

ORPHA:358Заболевание
Autosomal recessive

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

ORPHA:620371Заболевание

Glanzmann thrombasthenia

ORPHA:849Заболевание
Autosomal recessive

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

ORPHA:238763Порок
Autosomal recessive

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

ORPHA:2084Порок
Autosomal dominant

Glaucoma-sleep apnea syndrome

ORPHA:2085Заболевание
Unknown

Glaucomatocyclitic crisis disease

ORPHA:636950Заболевание

Glial tumor

ORPHA:182067Клин. гр.

Glioblastoma

ORPHA:360Заболевание
Multigenic/multifactorial, Not applicable

Glioependymal/ependymal cyst

ORPHA:269197Морф.

Gliomatosis cerebri

ORPHA:251582Заболевание
Not applicable

Gliosarcoma

ORPHA:251576Гист. подт.
Not applicable

Global cerebellar malformation

ORPHA:269224Кат.

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

ORPHA:544488Заболевание
Autosomal dominant

Global developmental delay-dental enamel defects-ataxia syndrome

ORPHA:714399Порок
Autosomal dominant

Global developmental delay-high pain tolerance-intellectual disability syndrome

ORPHA:714385Заболевание
Autosomal dominant

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

ORPHA:698085Порок
Autosomal recessive

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

ORPHA:697067Порок
Autosomal recessive

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

ORPHA:404476Порок
Not applicable