disease
   |__genetic disease
       |__monogenic disease  7473 rec.
           |__Alport syndrome 2 rec.
           |   |__autosomal dominant Alport syndrome 1 rec.
           |   |__autosomal recessive Alport syndrome 2 rec.
           |   |__X-linked Alport syndrome 1 rec.
           |__anterior segment dysgenesis 19 rec.
           |   |__anterior segment dysgenesis 1 1 rec.
           |   |__anterior segment dysgenesis 2 3 rec.
           |   |__anterior segment dysgenesis 3 1 rec.
           |   |__anterior segment dysgenesis 4 1 rec.
           |   |__anterior segment dysgenesis 5 2 rec.
           |   |__anterior segment dysgenesis 6 2 rec.
           |   |__anterior segment dysgenesis 7 7 rec.
           |   |__anterior segment dysgenesis 8 3 rec.
           |__autosomal genetic disease 6831 rec.
           |   |__Aicardi-Goutieres syndrome 7 rec.
           |   |__autosomal dominant disease(+) 3972 rec.
           |   |__autosomal hemophilia A
           |   |__autosomal recessive disease(+) 3654 rec.
           |   |__blepharophimosis, ptosis, and epicanthus inversus syndrome 2 rec.
           |   |__camptodactyly-tall stature-scoliosis-hearing loss syndrome 1 rec.
           |   |__chromosome 1q41-q42 deletion syndrome
           |   |__combined oxidative phosphorylation deficiency 55 1 rec.
           |   |__distal arthrogryposis type 1C 3 rec.
           |   |__dopamine transporter deficiency syndrome(+) 12 rec.
           |   |__exudative vitreoretinopathy 4 2 rec.
           |   |__factor XI deficiency 1 rec.
           |   |__familial adenomatous polyposis(+) 23 rec.
           |   |__familial Mediterranean fever
           |   |__focal segmental glomerulosclerosis 3 2 rec.
           |   |__Gillespie syndrome 1 rec.
           |   |__glucose transporter type 1 deficiency syndrome(+) 5 rec.
           |   |__hereditary desmoid disease 1 rec.
           |   |__hereditary spastic paraplegia 30(+) 2 rec.
           |   |__hypophosphatasia(+) 7 rec.
           |   |__McCune Albright syndrome 2 rec.
           |   |__neurodevelopmental disorder with hypotonia and speech delay 6 rec.
           |   |__retinitis pigmentosa 86
           |   |__Robinow syndrome(+) 8 rec.
           |   |__septooptic dysplasia
           |   |__Sotos syndrome(+) 6 rec.
           |   |__spondylocostal dysostosis 5 3 rec.
           |   |__syndromic microphthalmia 8
           |   |__syndromic microphthalmia 12
           |   |__syndromic microphthalmia 14 2 rec.
           |   |__thrombophilia due to thrombomodulin defect 2 rec.
           |   |__tubulinopathy
           |   |__Weill-Marchesani syndrome 3 rec.
           |__Bartter disease 6 rec.
           |   |__Bartter disease type 1 2 rec.
           |   |__Bartter disease type 2 2 rec.
           |   |__Bartter disease type 3 1 rec.
           |   |__Bartter disease type 4a
           |   |__Bartter disease type 4b 1 rec.
           |   |__Bartter disease type 5 1 rec.
           |__basal laminar drusen
           |__Brugada syndrome 9 rec.
           |   |__Brugada syndrome 1 2 rec.
           |   |__Brugada syndrome 2 3 rec.
           |   |__Brugada syndrome 3 1 rec.
           |   |__Brugada syndrome 4 1 rec.
           |   |__Brugada syndrome 5
           |   |__Brugada syndrome 6
           |   |__Brugada syndrome 7
           |   |__Brugada syndrome 8 1 rec.
           |   |__Brugada syndrome 9 1 rec.
           |__Camurati-Engelmann disease 3 rec.
           |__cardiofaciocutaneous syndrome 6 rec.
           |   |__cardiofaciocutaneous syndrome 1 1 rec.
           |   |__cardiofaciocutaneous syndrome 2 1 rec.
           |   |__cardiofaciocutaneous syndrome 3 2 rec.
           |   |__cardiofaciocutaneous syndrome 4 2 rec.
           |__cataract 41 rec.
           |   |__cataract 1 multiple types
           |   |__cataract 2 multiple types
           |   |__cataract 3 multiple types
           |   |__cataract 4 multiple types
           |   |__cataract 5 multiple types 1 rec.
           |   |__cataract 6 multiple types 1 rec.
           |   |__cataract 7
           |   |__cataract 8 multiple types
           |   |__cataract 9 multiple types 11 rec.
           |   |__cataract 10 multiple types
           |   |__cataract 11 multiple types 1 rec.
           |   |__cataract 12 multiple types
           |   |__cataract 13 with adult i phenotype 1 rec.
           |   |__cataract 14 multiple types
           |   |__cataract 15 multiple types 1 rec.
           |   |__cataract 16 multiple types 2 rec.
           |   |__cataract 17 multiple types
           |   |__cataract 18
           |   |__cataract 19 multiple types
           |   |__cataract 20 multiple types
           |   |__cataract 21 multiple types 1 rec.
           |   |__cataract 22 multiple types
           |   |__cataract 23
           |   |__cataract 24
           |   |__cataract 25
           |   |__cataract 26 multiple types
           |   |__cataract 27
           |   |__cataract 28
           |   |__cataract 29
           |   |__cataract 30
           |   |__cataract 31 multiple types 1 rec.
           |   |__cataract 32 multiple types
           |   |__cataract 33
           |   |__cataract 34 multiple types 3 rec.
           |   |__cataract 35
           |   |__cataract 36 2 rec.
           |   |__cataract 37
           |   |__cataract 38 1 rec.
           |   |__cataract 39 multiple types
           |   |__cataract 40 1 rec.
           |   |__cataract 41 1 rec.
           |   |__cataract 42
           |   |__cataract 43 1 rec.
           |   |__cataract 44
           |   |__cataract 45 1 rec.
           |   |__cataract 46 juvenile-onset 1 rec.
           |   |__cataract 47 8 rec.
           |   |__cataract 48 4 rec.
           |   |__diabetic cataract
           |   |__myotonic cataract
           |   |__posterior polar cataract
           |   |__senile cataract(+)
           |   |__tetanic cataract
           |__catecholaminergic polymorphic ventricular tachycardia 10 rec.
           |   |__catecholaminergic polymorphic ventricular tachycardia 1 1 rec.
           |   |__catecholaminergic polymorphic ventricular tachycardia 2
           |   |__catecholaminergic polymorphic ventricular tachycardia 3 1 rec.
           |   |__catecholaminergic polymorphic ventricular tachycardia 4 8 rec.
           |   |__catecholaminergic polymorphic ventricular tachycardia 5
           |__chondrodysplasia punctata 18 rec.
           |   |__autosomal dominant chondrodysplasia punctata
           |   |__rhizomelic chondrodysplasia punctata(+) 15 rec.
           |   |__X-linked chondrodysplasia punctata 1 2 rec.
           |   |__X-linked chondrodysplasia punctata 2(+) 1 rec.
           |__ciliopathy 84 rec.
           |   |__Joubert syndrome(+) 15 rec.
           |   |__Meckel syndrome(+) 6 rec.
           |   |__primary ciliary dyskinesia(+) 69 rec.
           |__cone-rod dystrophy 45 rec.
           |   |__cone-rod dystrophy 1
           |   |__cone-rod dystrophy 2 2 rec.
           |   |__cone-rod dystrophy 3 1 rec.
           |   |__cone-rod dystrophy 5 1 rec.
           |   |__cone-rod dystrophy 6 3 rec.
           |   |__cone-rod dystrophy 7
           |   |__cone-rod dystrophy 8
           |   |__cone-rod dystrophy 9 1 rec.
           |   |__cone-rod dystrophy 10 5 rec.
           |   |__cone-rod dystrophy 11 1 rec.
           |   |__cone-rod dystrophy 12 3 rec.
           |   |__cone-rod dystrophy 13
           |   |__cone-rod dystrophy 14 2 rec.
           |   |__cone-rod dystrophy 15 1 rec.
           |   |__cone-rod dystrophy 16
           |   |__cone-rod dystrophy 17
           |   |__cone-rod dystrophy 18
           |   |__cone-rod dystrophy 19 1 rec.
           |   |__cone-rod dystrophy 20 1 rec.
           |   |__cone-rod dystrophy 21 1 rec.
           |   |__cone-rod dystrophy 22 1 rec.
           |   |__cone-rod dystrophy 24 1 rec.
           |   |__Newfoundland cone-rod dystrophy 15 rec.
           |   |__X-linked cone-rod dystrophy 1 3 rec.
           |   |__X-linked cone-rod dystrophy 2
           |   |__X-linked cone-rod dystrophy 3 1 rec.
           |__contractures, pterygia, and spondylocarpotarsal fusion syndrome 11 rec.
           |   |__contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 rec.
           |   |__contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 1 rec.
           |__Cornelia de Lange syndrome 18 rec.
           |   |__Cornelia de Lange syndrome 1 2 rec.
           |   |__Cornelia de Lange syndrome 2 4 rec.
           |   |__Cornelia de Lange syndrome 3 3 rec.
           |   |__Cornelia de Lange syndrome 4 3 rec.
           |   |__Cornelia de Lange syndrome 5 1 rec.
           |   |__Cornelia de Lange syndrome 6 2 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.
           |   |__erythrokeratodermia variabilis et progressiva 1 2 rec.
           |   |__erythrokeratodermia variabilis et progressiva 2
           |   |__erythrokeratodermia variabilis et progressiva 3
           |   |__erythrokeratodermia variabilis et progressiva 4 1 rec.
           |   |__erythrokeratodermia variabilis et progressiva 5
           |   |__erythrokeratodermia variabilis et progressiva 6 1 rec.
           |__familial hemophagocytic lymphohistiocytosis 5 1 rec.
           |__familial nephrotic syndrome 67 rec.
           |   |__nephrotic syndrome type 1 10 rec.
           |   |__nephrotic syndrome type 2 6 rec.
           |   |__nephrotic syndrome type 3 1 rec.
           |   |__nephrotic syndrome type 4 1 rec.
           |   |__nephrotic syndrome type 5 1 rec.
           |   |__nephrotic syndrome type 6 2 rec.
           |   |__nephrotic syndrome type 7 1 rec.
           |   |__nephrotic syndrome type 8 1 rec.
           |   |__nephrotic syndrome type 9 3 rec.
           |   |__nephrotic syndrome type 10
           |   |__nephrotic syndrome type 11 1 rec.
           |   |__nephrotic syndrome type 12 5 rec.
           |   |__nephrotic syndrome type 13 1 rec.
           |   |__nephrotic syndrome type 15 1 rec.
           |   |__nephrotic syndrome type 16 2 rec.
           |   |__nephrotic syndrome type 17 1 rec.
           |   |__nephrotic syndrome type 18 1 rec.
           |   |__nephrotic syndrome type 19 3 rec.
           |   |__nephrotic syndrome type 20 14 rec.
           |   |__nephrotic syndrome type 21 2 rec.
           |   |__nephrotic syndrome type 22 1 rec.
           |   |__nephrotic syndrome type 23 3 rec.
           |   |__nephrotic syndrome type 24 1 rec.
           |   |__nephrotic syndrome type 26 1 rec.
           |   |__RENI syndrome 2 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.
           |   |__fetal akinesia deformation sequence syndrome 1 1 rec.
           |   |__fetal akinesia deformation sequence syndrome 2 1 rec.
           |   |__fetal akinesia deformation sequence syndrome 3
           |   |__fetal akinesia deformation sequence syndrome 4 1 rec.
           |   |__fetal akinesia deformation sequence syndrome X-linked
           |__gene duplication disease
           |   |__hereditary alpha tryptasemia syndrome
           |__hereditary combined deficiency of vitamin K-dependent clotting factors 2 rec.
           |   |__combined deficiency of vitamin K-dependent clotting factors 1 1 rec.
           |   |__combined deficiency of vitamin K-dependent clotting factors 2 1 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
           |   |__multiple epiphyseal dysplasia 2
           |   |__multiple epiphyseal dysplasia 3
           |   |__multiple epiphyseal dysplasia 6
           |__Noonan syndrome 47 rec.
           |   |__Noonan syndrome 1 10 rec.
           |   |__Noonan syndrome 2 1 rec.
           |   |__Noonan syndrome 3 5 rec.
           |   |__Noonan syndrome 4 1 rec.
           |   |__Noonan syndrome 5 2 rec.
           |   |__Noonan syndrome 6 1 rec.
           |   |__Noonan syndrome 7 2 rec.
           |   |__Noonan syndrome 8 2 rec.
           |   |__Noonan syndrome 9 1 rec.
           |   |__Noonan syndrome 10 1 rec.
           |   |__Noonan syndrome 11 4 rec.
           |   |__Noonan syndrome 12 4 rec.
           |   |__Noonan syndrome 13 1 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.
           |   |__hydrophthalmos(+) 2 rec.
           |__Ritscher-Schinzel syndrome 2 rec.
           |   |__Ritscher-Schinzel syndrome 1 1 rec.
           |   |__Ritscher-Schinzel syndrome 2 1 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.
           |   |__46,XY sex reversal 2
           |   |__Abruzzo-Erickson syndrome 6 rec.
           |   |__cataract 40 1 rec.
           |   |__congenital bilateral absence of vas deferens(+) 5 rec.
           |   |__congenital nonspherocytic hemolytic anemia 1 2 rec.
           |   |__corpus callosum agenesis-abnormal genitalia syndrome 3 rec.
           |   |__developmental and epileptic encephalopathy 90 1 rec.
           |   |__fetal akinesia deformation sequence syndrome X-linked
           |   |__McLeod syndrome
           |   |__Meester-Loeys syndrome
           |   |__Melnick-Needles syndrome 2 rec.
           |   |__non-syndromic X-linked intellectual disability(+) 65 rec.
           |   |__Ogden syndrome 1 rec.
           |   |__ovarian dysgenesis 2
           |   |__primary ovarian insufficiency 1 1 rec.
           |   |__primary ovarian insufficiency 4
           |   |__reducing body myopathy 1B 6 rec.
           |   |__retinitis pigmentosa 2
           |   |__retinitis pigmentosa 24
           |   |__split hand-foot malformation 2
           |   |__syndromic microphthalmia 1 1 rec.
           |   |__syndromic microphthalmia 13 5 rec.
           |   |__syndromic X-linked intellectual disability(+) 123 rec.
           |   |__TARP syndrome 2 rec.
           |   |__X-linked cardiac valvular dysplasia 2 rec.
           |   |__X-linked central diabetes insipidus
           |   |__X-linked cleft palate with or without ankyloglossia 6 rec.
           |   |__X-linked dilated cardiomyopathy 2 rec.
           |   |__X-linked dominant disease(+) 193 rec.
           |   |__X-linked epilepsy with variable learning disabilities and behavior disorders 1 rec.
           |   |__X-linked exudative vitreoretinopathy 2
           |   |__X-linked hereditary ataxia(+) 130 rec.
           |   |__X-linked hypoparathyroidism
           |   |__X-linked lissencephaly 1 1 rec.
           |   |__X-linked lissencephaly 2 3 rec.
           |   |__X-linked nonsyndromic deafness(+) 5 rec.
           |   |__X-linked panhypopituitarism 8 rec.
           |   |__X-linked recessive disease(+) 280 rec.
           |   |__X-linked reticulate pigmentary disorder 1 rec.
           |   |__X-linked retinitis pigmentosa and sinorespiratory infections 3 rec.
           |   |__X-linked spermatogenic failure 4 3 rec.
           |   |__X-linked spermatogenic failure 5
           |   |__X-linked spermatogenic failure 6
           |   |__X-linked spermatogenic failure 8
           |   |__X-linked thrombophilia due to factor IX defect 1 rec.
           |__Y-linked monogenic disease 5 rec.
               |__46,XY sex reversal 1 3 rec.
               |__retinitis pigmentosa Y-linked
               |__Y-linked deafness(+) 1 rec.
               |__Y-linked spermatogenic failure 1
               |__Y-linked spermatogenic failure 2 1 rec.