disease
   |__genetic disease  8304 rec.
       |__chromosomal disease 190 rec.
       |   |__chromosomal deletion syndrome(+) 140 rec.
       |   |__chromosomal duplication syndrome(+) 50 rec.
       |   |__Patau syndrome
       |   |__Prader-Willi syndrome
       |   |__ring chromosome syndrome(+)
       |__inherited metabolic disorder 1849 rec.
       |   |__aceruloplasminemia 4 rec.
       |   |__amino acid metabolic disorder(+) 232 rec.
       |   |__aromatic L-amino acid decarboxylase deficiency 4 rec.
       |   |__bilirubin metabolic disorder(+) 25 rec.
       |   |__carbohydrate metabolic disorder(+) 471 rec.
       |   |__cerebral amyloid angiopathy(+) 11 rec.
       |   |__D-glyceric aciduria 1 rec.
       |   |__dopamine beta-hydroxylase deficiency 1 rec.
       |   |__familial hypocalciuric hypercalcemia(+) 2 rec.
       |   |__familial visceral amyloidosis 4 rec.
       |   |__glycerol kinase deficiency 6 rec.
       |   |__Gordon Holmes syndrome 5 rec.
       |   |__Greenberg dysplasia 1 rec.
       |   |__HRPT-related hyperuricemia
       |   |__hyperphosphatemic familial tumoral calcinosis 2 rec.
       |   |__immunoglobulin light chain amyloidosis
       |   |__infantile hypercalcemia 1 11 rec.
       |   |__infantile hypercalcemia 2
       |   |__isolated elevated serum creatine phosphokinase levels
       |   |__isolated sulfite oxidase deficiency 3 rec.
       |   |__lipid metabolism disorder(+) 108 rec.
       |   |__lysosomal storage disease(+) 290 rec.
       |   |__metal metabolism disorder(+) 64 rec.
       |   |__mitochondrial metabolism disease(+) 490 rec.
       |   |__multiple acyl-CoA dehydrogenase deficiency 8 rec.
       |   |__peroxisomal disease(+) 79 rec.
       |   |__phosphoribosylpyrophosphate synthetase superactivity 1 rec.
       |   |__plasma protein metabolism disease(+) 9 rec.
       |   |__poor metabolism of thiopurines(+)
       |   |__porphyria(+) 27 rec.
       |   |__primary cutaneous amyloidosis(+) 2 rec.
       |   |__purine-pyrimidine metabolic disorder(+) 26 rec.
       |   |__pyrimidine metabolic disorder(+) 3 rec.
       |   |__transthyretin amyloidosis 24 rec.
       |   |__trimethylaminuria 2 rec.
       |   |__variant ABeta2M amyloidosis
       |   |__vitamin metabolic disorder(+) 32 rec.
       |   |__warfarin resistance 3 rec.
       |   |__warfarin sensitivity
       |   |__X-linked warfarin sensitivity 1 rec.
       |__monogenic disease 7473 rec.
       |   |__Alport syndrome(+) 2 rec.
       |   |__anterior segment dysgenesis(+) 19 rec.
       |   |__autosomal genetic disease(+) 6831 rec.
       |   |__Bartter disease(+) 6 rec.
       |   |__basal laminar drusen
       |   |__Brugada syndrome(+) 9 rec.
       |   |__Camurati-Engelmann disease 3 rec.
       |   |__cardiofaciocutaneous syndrome(+) 6 rec.
       |   |__cataract(+) 41 rec.
       |   |__catecholaminergic polymorphic ventricular tachycardia(+) 10 rec.
       |   |__chondrodysplasia punctata(+) 18 rec.
       |   |__ciliopathy(+) 84 rec.
       |   |__cone-rod dystrophy(+) 45 rec.
       |   |__contractures, pterygia, and spondylocarpotarsal fusion syndrome(+) 11 rec.
       |   |__Cornelia de Lange syndrome(+) 18 rec.
       |   |__corticosteroid-binding globulin deficiency 21 rec.
       |   |__dilated cardiomyopathy 1BB
       |   |__dilated cardiomyopathy 1EE 2 rec.
       |   |__dilated cardiomyopathy 1FF 2 rec.
       |   |__dilated cardiomyopathy 1G 3 rec.
       |   |__dilated cardiomyopathy 1GG 2 rec.
       |   |__dilated cardiomyopathy 1H
       |   |__dilated cardiomyopathy 1I
       |   |__dilated cardiomyopathy 1J 1 rec.
       |   |__dilated cardiomyopathy 1K
       |   |__dilated cardiomyopathy 1L 4 rec.
       |   |__dilated cardiomyopathy 1M 2 rec.
       |   |__dilated cardiomyopathy 1O 11 rec.
       |   |__dilated cardiomyopathy 1P 2 rec.
       |   |__dilated cardiomyopathy 1Q
       |   |__dilated cardiomyopathy 1T
       |   |__dilated cardiomyopathy 1W 2 rec.
       |   |__dilated cardiomyopathy 1Z
       |   |__erythrokeratodermia variabilis(+) 10 rec.
       |   |__familial hemophagocytic lymphohistiocytosis 5 1 rec.
       |   |__familial nephrotic syndrome(+) 67 rec.
       |   |__Fanconi anemia complementation group F
       |   |__Fanconi anemia complementation group G
       |   |__Fanconi anemia complementation group J 1 rec.
       |   |__Fanconi anemia complementation group N
       |   |__fetal akinesia deformation sequence syndrome(+) 3 rec.
       |   |__gene duplication disease(+)
       |   |__hereditary combined deficiency of vitamin K-dependent clotting factors(+) 2 rec.
       |   |__hypochondrogenesis
       |   |__infantile histiocytoid cardiomyopathy
       |   |__inflammatory bowel disease 1
       |   |__inflammatory bowel disease 2
       |   |__inflammatory bowel disease 4
       |   |__inflammatory bowel disease 5
       |   |__inflammatory bowel disease 6
       |   |__inflammatory bowel disease 7
       |   |__inflammatory bowel disease 8
       |   |__inflammatory bowel disease 9
       |   |__inflammatory bowel disease 10 9 rec.
       |   |__inflammatory bowel disease 11
       |   |__inflammatory bowel disease 12
       |   |__inflammatory bowel disease 13 2 rec.
       |   |__inflammatory bowel disease 14
       |   |__inflammatory bowel disease 15
       |   |__inflammatory bowel disease 16
       |   |__inflammatory bowel disease 17
       |   |__inflammatory bowel disease 18
       |   |__inflammatory bowel disease 19
       |   |__inflammatory bowel disease 20
       |   |__inflammatory bowel disease 22
       |   |__inflammatory bowel disease 23
       |   |__inflammatory bowel disease 24
       |   |__inflammatory bowel disease 26
       |   |__inflammatory bowel disease 27
       |   |__isolated microphthalmia 4
       |   |__lambda 5 deficiency
       |   |__Leber congenital amaurosis 3
       |   |__Leber congenital amaurosis 7 2 rec.
       |   |__Leber congenital amaurosis 10 1 rec.
       |   |__multiple epiphyseal dysplasia due to collagen 9 anomaly(+)
       |   |__Noonan syndrome(+) 47 rec.
       |   |__osteogenesis imperfecta type 6 1 rec.
       |   |__osteogenesis imperfecta type 14 2 rec.
       |   |__posterior polymorphous corneal dystrophy 3 1 rec.
       |   |__postural orthostatic tachycardia syndrome 2 rec.
       |   |__primary congenital glaucoma(+) 3 rec.
       |   |__Ritscher-Schinzel syndrome(+) 2 rec.
       |   |__schizophrenia 9 7 rec.
       |   |__schizophrenia 13
       |   |__schizophrenia 14
       |   |__schizophrenia 16
       |   |__schizophrenia 18 1 rec.
       |   |__SHOX-related short stature
       |   |__X-linked monogenic disease(+) 710 rec.
       |   |__Y-linked monogenic disease(+) 5 rec.
       |__polygenic disease 263 rec.
           |__digenic disease(+) 263 rec.