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Сирек (орфандық) аурулар
7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.
7,547
Аурулар
4 552
Гендер
8 700
Фенотиптер
140
Аймақтар
Все (7,547)Био аномалияСанатКлиникалық топКлиникалық подтипClinical syndromeАуруЭтиологиялық подтипГистопатологиялық подтипМальформацияМорфологиялық аномалияКлиникалық жағдай
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