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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