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ID SO:0000704
Name gene
Parent Relationships

is_a biological_region

Related Diseases

null

  • alpha 1-antitrypsin deficiency
  • tuberous sclerosis
  • cystic fibrosis
  • Angelman syndrome
  • disease has basis in

  • monogenic disease
  • Brugada syndrome
  • erythrokeratodermia variabilis
  • cone-rod dystrophy
  • primary congenital glaucoma
  • lambda 5 deficiency
  • cardiofaciocutaneous syndrome
  • ciliopathy
  • Ritscher-Schinzel syndrome
  • anterior segment dysgenesis
  • catecholaminergic polymorphic ventricular tachycardia
  • basal laminar drusen
  • isolated microphthalmia 4
  • schizophrenia 9
  • schizophrenia 13
  • schizophrenia 14
  • schizophrenia 16
  • schizophrenia 18
  • multiple epiphyseal dysplasia due to collagen 9 anomaly
  • hypochondrogenesis
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome
  • infantile histiocytoid cardiomyopathy
  • Sandestig-Stefanova syndrome
  • corticosteroid-binding globulin deficiency
  • Leber congenital amaurosis 10
  • Leber congenital amaurosis 3
  • Leber congenital amaurosis 7
  • osteogenesis imperfecta type 14
  • osteogenesis imperfecta type 6
  • dilated cardiomyopathy 1H
  • dilated cardiomyopathy 1G
  • dilated cardiomyopathy 1I
  • dilated cardiomyopathy 1Z
  • dilated cardiomyopathy 1GG
  • dilated cardiomyopathy 1L
  • dilated cardiomyopathy 1K
  • dilated cardiomyopathy 1P
  • dilated cardiomyopathy 1J
  • dilated cardiomyopathy 1Q
  • dilated cardiomyopathy 1W
  • dilated cardiomyopathy 1M
  • dilated cardiomyopathy 1O
  • dilated cardiomyopathy 1T
  • dilated cardiomyopathy 1EE
  • dilated cardiomyopathy 1BB
  • dilated cardiomyopathy 1FF
  • posterior polymorphous corneal dystrophy 3
  • inflammatory bowel disease 7
  • inflammatory bowel disease 17
  • inflammatory bowel disease 23
  • inflammatory bowel disease 10
  • inflammatory bowel disease 9
  • inflammatory bowel disease 12
  • inflammatory bowel disease 18
  • inflammatory bowel disease 5
  • inflammatory bowel disease 19
  • inflammatory bowel disease 1
  • inflammatory bowel disease 13
  • inflammatory bowel disease 11
  • inflammatory bowel disease 14
  • inflammatory bowel disease 16
  • inflammatory bowel disease 15
  • inflammatory bowel disease 20
  • inflammatory bowel disease 2
  • inflammatory bowel disease 26
  • inflammatory bowel disease 27
  • inflammatory bowel disease 4
  • inflammatory bowel disease 8
  • inflammatory bowel disease 22
  • inflammatory bowel disease 6
  • inflammatory bowel disease 24
  • familial hemophagocytic lymphohistiocytosis 5
  • Fanconi anemia complementation group G
  • Fanconi anemia complementation group F
  • Fanconi anemia complementation group N
  • Fanconi anemia complementation group J
  • postural orthostatic tachycardia syndrome
  • fetal akinesia deformation sequence syndrome
  • SHOX-related short stature
  • hereditary combined deficiency of vitamin K-dependent clotting factors
  • Alport syndrome
  • DiGeorge syndrome
  • Cornelia de Lange syndrome
  • chondrodysplasia punctata
  • familial nephrotic syndrome
  • Noonan syndrome
  • Bartter disease
  • Camurati-Engelmann disease
  • cataract
  • has material basis in

  • gene duplication disease
  • hereditary alpha tryptasemia syndrome
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