Orphanet Database • Orphadata CC-BY-4.0
Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
7,547
Заболеваний
4 552
Генов
8 700
Фенотипов
140
Регионов
Все (7,547)Biological anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformation syndromeMorphological anomalyParticular clinical situation in a disease or syndrome
Giant cell tumor of bone
Not applicable
Adult
Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
Autosomal dominant
Gingival fibromatosis-facial dysmorphism syndrome
Autosomal recessive
Neonatal
Gingival fibromatosis-hypertrichosis syndrome
Autosomal dominant
Infancy, Neonatal
Gingival fibromatosis-progressive deafness syndrome
Autosomal dominant
Adult
Gitelman syndrome
Autosomal recessive
Childhood
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
All ages
Glanzmann thrombasthenia
Autosomal recessive
Infancy, Neonatal
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Autosomal recessive
Infancy, Neonatal
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Autosomal dominant
All ages
Glaucoma-sleep apnea syndrome
Unknown
No data available
Glaucomatocyclitic crisis disease
Adolescent, Adult
Glial tumor
Glioblastoma
Multigenic/multifactorial, Not applicable
All ages
Glioependymal/ependymal cyst
Infancy, Neonatal
Gliomatosis cerebri
Not applicable
Adult
Gliosarcoma
Not applicable
Adult
Global cerebellar malformation
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Autosomal dominant
Antenatal, Neonatal
Global developmental delay-dental enamel defects-ataxia syndrome
Autosomal dominant
Global developmental delay-high pain tolerance-intellectual disability syndrome
Autosomal dominant
Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome
Autosomal recessive
Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
Autosomal recessive
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Not applicable
Infancy