MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Giant cell tumor of bone

ORPHA:363976Заболевание
Not applicable

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

ORPHA:664438Мальформация
Autosomal dominant

Gingival fibromatosis-facial dysmorphism syndrome

ORPHA:2025Мальформация
Autosomal recessive

Gingival fibromatosis-hypertrichosis syndrome

ORPHA:2026Мальформация
Autosomal dominant

Gingival fibromatosis-progressive deafness syndrome

ORPHA:2027Мальформация
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:238763Мальформация
Autosomal recessive

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

ORPHA:2084Мальформация
Autosomal dominant

Glaucoma-sleep apnea syndrome

ORPHA:2085Заболевание
Unknown

Glaucomatocyclitic crisis disease

ORPHA:636950Заболевание

Glial tumor

ORPHA:182067Клин. группа

Glioblastoma

ORPHA:360Заболевание
Multigenic/multifactorial, Not applicable

Glioependymal/ependymal cyst

ORPHA:269197Морф. аномалия

Gliomatosis cerebri

ORPHA:251582Заболевание
Not applicable

Gliosarcoma

ORPHA:251576Гист. подтип
Not applicable

Global cerebellar malformation

ORPHA:269224Категория

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

ORPHA:544488Заболевание
Autosomal dominant

Global developmental delay-dental enamel defects-ataxia syndrome

ORPHA:714399Мальформация
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:698085Мальформация
Autosomal recessive

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

ORPHA:697067Мальформация
Autosomal recessive

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

ORPHA:404476Мальформация
Not applicable