Visualize Submit Comment

Metadata
ID	GENO:0000147
Name	autosomal dominant inheritance
Parent Relationships	is_a autosomal inheritance
Related Diseases	null arrhythmogenic right ventricular dysplasia 11 has material basis in idiopathic pulmonary fibrosis lacrimoauriculodentodigital syndrome 1 Hailey-Hailey disease multiple endocrine neoplasia type 2A Andersen-Tawil syndrome Frasier syndrome pachyonychia congenita campomelic dysplasia Loeys-Dietz syndrome Costello syndrome Carney complex monilethrix maturity-onset diabetes of the young Charcot-Marie-Tooth disease type 3 congenital adrenal insufficiency familial medullary thyroid carcinoma Ullrich congenital muscular dystrophy autosomal dominant nonsyndromic deafness ADULT syndrome acrokeratosis verruciformis advanced sleep phase syndrome familial visceral amyloidosis Finnish type amyloidosis transthyretin amyloidosis Bannayan-Riley-Ruvalcaba syndrome Bart-Pumphrey syndrome Beare-Stevenson cutis gyrata syndrome Birk-Barel syndrome Birt-Hogg-Dube syndrome Blau syndrome brachydactyly-syndactyly syndrome branchiooculofacial syndrome Brooke-Spiegler syndrome autosomal dominant disease polycystic liver disease spastic ataxia 1 paraganglioma iridogoniodysgenesis syndrome juvenile polyposis syndrome proximal symphalangism tarsal-carpal coalition syndrome multiple cutaneous and mucosal venous malformations multiple synostoses syndrome familial encephalopathy with neuroserpin inclusion bodies Muckle-Wells syndrome Koolen de Vries syndrome Townes-Brocks syndrome spastic ataxia 7 autosomal dominant hypophosphatemic rickets popliteal pterygium syndrome Timothy syndrome amyotrophic lateral sclerosis type 1 rippling muscle disease 2 autosomal dominant chondrodysplasia punctata autosomal dominant intellectual developmental disorder Rapp-Hodgkin syndrome autosomal dominant sideroblastic anemia 4 acromelic frontonasal dysostosis microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Kleefstra syndrome 1 acrofacial dysostosis Cincinnati type Stormorken syndrome punctate palmoplantar keratoderma type III Parkinson's disease 1 Parkinson's disease 8 orofaciodigital syndrome X chromosome 13q14 deletion syndrome chromosome 15q11.2 deletion syndrome chromosome 15q24 deletion syndrome chromosome 15q25 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 17q11.2 deletion syndrome chromosome 17q12 deletion syndrome chromosome 18p deletion syndrome chromosome 18q deletion syndrome chromosome 19q13.11 deletion syndrome NFIA-related disorder 3p deletion syndrome chromosome 5q12 deletion syndrome chromosome 19p13.13 deletion syndrome granular corneal dystrophy 2 epithelial basement membrane dystrophy posterior amorphous corneal dystrophy Thiel-Behnke corneal dystrophy Schnyder corneal dystrophy Feingold syndrome Holt-Oram syndrome Miller-Dieker lissencephaly syndrome myoclonic-atonic epilepsy Mowat-Wilson syndrome Perry syndrome Pitt-Hopkins syndrome ablepharon macrostomia syndrome Noonan syndrome 1 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome 10 WHIM syndrome 1 abdominal obesity-metabolic syndrome ulnar-mammary syndrome permanent neonatal diabetes mellitus familial erythrocytosis 1 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions autosomal dominant nocturnal frontal lobe epilepsy platelet-type bleeding disorder 16 hyperekplexia 1 hyperekplexia 3 familial hypocalciuric hypercalcemia Muenke Syndrome torsion dystonia 1 congenital central hypoventilation syndrome epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex Ogna type hand-foot-genital syndrome Doyne honeycomb retinal dystrophy Duane-radial ray syndrome familial temporal lobe epilepsy 1 familial temporal lobe epilepsy 6 familial temporal lobe epilepsy 3 familial temporal lobe epilepsy 7 familial temporal lobe epilepsy 5 familial temporal lobe epilepsy 4 familial temporal lobe epilepsy 8 familial temporal lobe epilepsy 2 sclerosteosis 2 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 3 multiple types of congenital heart defects 6 congenital diarrhea 6 EEC syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 adult-onset autosomal dominant demyelinating leukodystrophy hypomyelinating leukodystrophy 6 isolated microphthalmia 7 hereditary neuropathy with liability to pressure palsies autosomal dominant pseudohypoaldosteronism type 1 macrocephaly-autism syndrome autosomal dominant keratitis-ichthyosis-deafness syndrome bullous congenital ichthyosiform erythroderma Parkinson's disease 4 Parkinson's disease 17 proteosome-associated autoinflammatory syndrome 2 otosclerosis 1 otosclerosis 2 otosclerosis 3 otosclerosis 4 otosclerosis 5 otosclerosis 7 otosclerosis 8 otosclerosis 10 otosclerosis 11 developmental dysplasia of the hip 1 developmental dysplasia of the hip 2 dystonia 28, childhood-onset dystonia 30 dystonia 33 interstitial lung disease 1 Ullrich congenital muscular dystrophy 1C episodic kinesigenic dyskinesia 3 ZTTK syndrome myoclonic dystonia 34 Loeys-Dietz syndrome 6 episodic ataxia type 9 Cornelia de Lange syndrome 6 interstitial lung disease 2 renal hypomagnesemia 7, with or without dilated cardiomyopathy polycystic liver disease 2 polycystic liver disease 3 polycystic liver disease 4 preaxial polydactyly type IV preaxial polydactyly II short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 bent bone dysplasia syndrome 1 autosomal dominant isolated macrothrombocytopenia 2 poor metabolism of thiopurines 2 rhabdoid tumor predisposition syndrome 2 striatal degeneration 2 autosomal dominant dyskeratosis congenita 1 autosomal dominant dyskeratosis congenita 2 autosomal dominant dyskeratosis congenita 3 autosomal dominant dyskeratosis congenita 4 autosomal dominant dyskeratosis congenita 6 Revesz syndrome CST3-related cerebral amyloid angiopathy APP-related cerebral amyloid angiopathy ITM2B-related cerebral amyloid angiopathy 1 ITM2B-related cerebral amyloid angiopathy 2 Coffin-Siris syndrome 1 Coffin-Siris syndrome 2 Coffin-Siris syndrome 3 Coffin-Siris syndrome 4 Coffin-Siris syndrome 9 schizophrenia 1 schizophrenia 2 schizophrenia 3 schizophrenia 4 schizophrenia 5 schizophrenia 6 schizophrenia 7 schizophrenia 8 schizophrenia 10 schizophrenia 11 schizophrenia 12 schizophrenia 15 congenital nongoitrous hypothyroidism 2 congenital nongoitrous hypothyroidism 5 congenital nongoitrous hypothyroidism 3 congenital nongoitrous hypothyroidism 6 autosomal dominant cutis laxa hereditary sensory neuropathy type 1B hereditary sensory and autonomic neuropathy type 7 hereditary sensory and autonomic neuropathy type 1A hereditary sensory neuropathy type 1F hereditary sensory neuropathy type 1D hereditary sensory and autonomic neuropathy type 1C hereditary sensory neuropathy type 1E spermatogenic failure 2 spermatogenic failure 3 spermatogenic failure 8 spermatogenic failure 12 spermatogenic failure 4 spermatogenic failure 10 spermatogenic failure 11 infantile-onset distal myopathy distal myopathy 1 familial partial lipodystrophy type 2 familial partial lipodystrophy type 3 familial partial lipodystrophy type 4 hereditary lymphedema IC hereditary lymphedema ID hereditary lymphedema IA hereditary lymphedema IB hereditary lymphedema II familial hyperinsulinemic hypoglycemia 7 familial hyperinsulinemic hypoglycemia 3 familial hyperinsulinemic hypoglycemia 6 familial hyperinsulinemic hypoglycemia 2 familial hyperinsulinemic hypoglycemia 1 familial hyperinsulinemic hypoglycemia 5 intrahepatic cholestasis of pregnancy 1 intrahepatic cholestasis of pregnancy 3 autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant Emery-Dreifuss muscular dystrophy 4 autosomal dominant Emery-Dreifuss muscular dystrophy 5 autosomal dominant Emery-Dreifuss muscular dystrophy 7 Lynch syndrome 1 hereditary nonpolyposis colorectal cancer type 5 primary autosomal dominant microcephaly 18 multiple epiphyseal dysplasia 2 multiple epiphyseal dysplasia 5 multiple epiphyseal dysplasia 6 multiple epiphyseal dysplasia 1 multiple epiphyseal dysplasia 3 Miura type epiphyseal chondrodysplasia epithelial recurrent erosion dystrophy vertebral anomalies and variable endocrine and T-cell dysfunction spinal muscular atrophy with lower extremity predominant spinal muscular atrophy with lower extremity predominant 2A spinal muscular atrophy with lower extremity predominant 2B spinal muscular atrophy with lower extremity predominant 1 cataract 47 nevoid basal cell carcinoma syndrome 1 developmental and epileptic encephalopathy 64 developmental and epileptic encephalopathy 96 developmental and epileptic encephalopathy 109 developmental and epileptic encephalopathy 6B developmental and epileptic encephalopathy 97 developmental and epileptic encephalopathy 98 developmental and epileptic encephalopathy 99 developmental and epileptic encephalopathy 100 developmental and epileptic encephalopathy 103 developmental and epileptic encephalopathy 104 developmental and epileptic encephalopathy 108 hypomyelinating leukodystrophy 19 hypomyelinating leukodystrophy 25 hypomyelinating leukodystrophy 22 hypomyelinating leukodystrophy 16 hypomyelinating leukodystrophy 24 brachycephaly, trichomegaly, and developmental delay vertebral hypersegmentation and orofacial anomalies retinal macular dystrophy paroxysmal nonkinesigenic dyskinesia 3 early-onset dystonia and/or spastic paraplegia hereditary spastic paraplegia 79A hereditary spastic paraplegia 88 hereditary spastic paraplegia 90A hereditary spastic paraplegia 90B mitochondrial complex V (ATP synthase) deficiency nuclear type 4A carpal tunnel syndrome 1 carpal tunnel syndrome 2 chromosome 1p36.33 duplication syndrome early-onset epilepsy 2 early-onset epilepsy 3 childhood-onset neurodegeneration with brain atrophy Watson syndrome Legius syndrome Schinzel Giedion syndrome Mitchell syndrome familial multiple lipomatosis foveal hypoplasia 1 aniridia 1 long QT syndrome 16 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures developmental and epileptic encephalopathy 116 primary pigmented nodular adrenocortical disease 1 primary pigmented nodular adrenocortical disease 2 primary pigmented nodular adrenocortical disease 4 epidermolytic palmoplantar keratoderma 2 epidermolytic palmoplantar keratoderma 1 familial renal glucosuria autoinflammation, antibody deficiency, and immune dysregulation syndrome rhabdoid tumor predisposition syndrome rhabdoid tumor predisposition syndrome 1 Jansen's metaphyseal chondrodysplasia spondyloepimetaphyseal dysplasia, Strudwick type spondyloepimetaphyseal dysplasia, Missouri type Worth syndrome hypochondroplasia Kniest dysplasia pseudoachondroplasia achondrogenesis type II Charcot-Marie-Tooth disease type 5 hypophosphatemic nephrolithiasis/osteoporosis 1 hypophosphatemic nephrolithiasis/osteoporosis 2 nonsyndromic congenital nail disorder 1 nonsyndromic congenital nail disorder 2 nonsyndromic congenital nail disorder 3 nonsyndromic congenital nail disorder 5 nonsyndromic congenital nail disorder 6 nonsyndromic congenital nail disorder 7 nonsyndromic congenital nail disorder 8 tubular aggregate myopathy 1 myofibrillar myopathy 1 myofibrillar myopathy 2 myofibrillar myopathy 3 myofibrillar myopathy 4 myofibrillar myopathy 5 myofibrillar myopathy 6 congenital myopathy 4A mitochondrial DNA depletion syndrome 12a multiple endocrine neoplasia type 4 mandibulofacial dysostosis, Guion-Almeida type punctate palmoplantar keratoderma type II dystransthyretinemic hyperthyroxinemia autosomal dominant intellectual developmental disorder 56 autosomal dominant intellectual developmental disorder 55 amelogenesis imperfecta type 3B erythrokeratodermia variabilis et progressiva 2 erythrokeratodermia variabilis et progressiva 3 exudative vitreoretinopathy 7 gingival fibromatosis 5 developmental and epileptic encephalopathy 56 developmental and epileptic encephalopathy 57 developmental and epileptic encephalopathy 58 familial erythrocytosis 5 developmental and epileptic encephalopathy 59 Charcot-Marie-Tooth disease dominant intermediate G Coffin-Siris syndrome 6 megalencephalic leukoencephalopathy with subcortical cysts 2B Culler-Jones syndrome aortic valve disease 1 aortic valve disease 2 familial erythrocytosis 3 blepharocheilodontic syndrome Alzheimer's disease 1 trichorhinophalangeal syndrome type III nephrotic syndrome type 4 orofacial cleft 1 orofacial cleft 13 familial adenomatous polyposis 1 developmental and epileptic encephalopathy 32 developmental and epileptic encephalopathy 54 developmental and epileptic encephalopathy 62 developmental and epileptic encephalopathy 11 Dravet syndrome developmental and epileptic encephalopathy 47 developmental and epileptic encephalopathy 45 developmental and epileptic encephalopathy 24 developmental and epileptic encephalopathy 65 developmental and epileptic encephalopathy 19 developmental and epileptic encephalopathy 4 developmental and epileptic encephalopathy 31A developmental and epileptic encephalopathy 5 developmental and epileptic encephalopathy 14 developmental and epileptic encephalopathy 41 developmental and epileptic encephalopathy 27 developmental and epileptic encephalopathy 13 developmental and epileptic encephalopathy 66 developmental and epileptic encephalopathy 43 developmental and epileptic encephalopathy 17 developmental and epileptic encephalopathy 42 developmental and epileptic encephalopathy 46 developmental and epileptic encephalopathy 26 developmental and epileptic encephalopathy 7 developmental and epileptic encephalopathy 33 developmental and epileptic encephalopathy 30 developmental and epileptic encephalopathy 92 developmental and epileptic encephalopathy 91 ovarian dysgenesis 8 Parkinson's disease 22 Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome 4 epidermolysis bullosa simplex localized type epidermolysis bullosa simplex generalized type Meier-Gorlin syndrome 6 PAPA syndrome adult-onset leukoencephalopathy with axonal spheroids and pigmented glia bronchiectasis 1 bronchiectasis 2 bronchiectasis 3 granular corneal dystrophy 1 Carney-Stratakis syndrome Sweeney-Cox syndrome autosomal dominant Wolfram syndrome agammaglobulinemia 5 Klippel-Feil syndrome 1 Klippel-Feil syndrome 3 orofacial cleft 6 Kleefstra syndrome 2 ankylosing spondylitis 2 anterior segment dysgenesis 1 anterior segment dysgenesis 3 anterior segment dysgenesis 4 severe congenital neutropenia 1 atrial standstill 1 diaphyseal medullary stenosis with malignant fibrous histiocytoma warfarin sensitivity posterior polymorphous corneal dystrophy 4 Meesmann corneal dystrophy 1 Meesmann corneal dystrophy 2 fibrochondrogenesis 2 Stickler syndrome 2 Stickler syndrome 1 otospondylomegaepiphyseal dysplasia, autosomal dominant autosomal dominant familial visceral neuropathy tubular aggregate myopathy 2 Teebi hypertelorism syndrome 1 prothrombin thrombophilia congenital myopathy 6 autosomal dominant congenital deafness with onychodystrophy Kenny-Caffey syndrome type 2 Ehlers-Danlos syndrome classic type 2 Ehlers-Danlos syndrome arthrochalasia type 1 Ehlers-Danlos syndrome arthrochalasia type 2 Fanconi renotubular syndrome 1 Fanconi renotubular syndrome 3 Fanconi renotubular syndrome 4 hereditary diffuse gastric cancer erythrokeratodermia variabilis et progressiva 6 autosomal dominant beta thalassemia delta beta-thalassemia Treacher Collins syndrome 1 Treacher Collins syndrome 2 autosomal dominant craniometaphyseal dysplasia autosomal dominant craniodiaphyseal dysplasia growth hormone insensitivity syndrome with immune dysregulation 2 optic atrophy 12 omodysplasia 2 primary ovarian insufficiency 3 primary ovarian insufficiency 5 primary ovarian insufficiency 6 primary ovarian insufficiency 7 primary ovarian insufficiency 11 primary ovarian insufficiency 16 Bainbridge-Ropers syndrome variant ABeta2M amyloidosis hereditary angioedema type I 46,XX sex reversal 5 familial Behcet-like autoinflammatory syndrome arrhythmogenic right ventricular dysplasia 14 intracranial berry aneurysm 1 intracranial berry aneurysm 3 aortic valve disease 3 Ehlers-Danlos syndrome periodontal type 1 Ehlers-Danlos syndrome periodontal type 2 King Denborough syndrome congenital fibrosis of the extraocular muscles 1 congenital fibrosis of the extraocular muscles 3A congenital fibrosis of the extraocular muscles 3C retinal cone dystrophy 1 central conducting lymphatic anomaly congenital limbs-face contractures-hypotonia-developmental delay syndrome nephrogenic diabetes insipidus type 2 DICER1 syndrome Marsili syndrome ectodermal dysplasia and immunodeficiency 2 nonautoimmune hyperthyroidism familial gestational hyperthyroidism hot water epilepsy 1 keratosis palmoplantaris striata 1 keratosis palmoplantaris striata 2 keratosis palmoplantaris striata 3 Baraitser-Winter syndrome 1 Baraitser-Winter syndrome 2 benign familial infantile seizures 1 benign familial infantile seizures 2 benign familial infantile seizures 3 benign familial infantile seizures 5 benign familial infantile seizures 6 inclusion body myopathy and brain white matter abnormalities DeSanto-Shinawi syndrome 3-methylglutaconic aciduria type 7a agammaglobulinemia 8A agammaglobulinemia 10 common variable immunodeficiency 2 common variable immunodeficiency 10 common variable immunodeficiency 13 common variable immunodeficiency 14 dilated cardiomyopathy 1LL dilated cardiomyopathy 1MM hypotonia, ataxia, and delayed development syndrome autoimmune interstitial lung, joint, and kidney disease pulmonary venoocclusive disease 1 white sponge nevus 1 white sponge nevus 2 Antley-Bixler syndrome without disordered steroidogenesis neuronal intranuclear inclusion disease essential tremor 6 oculopharyngodistal myopathy 1 oculopharyngodistal myopathy 2 oculopharyngodistal myopathy 3 oculopharyngodistal myopathy 4 multiple synostoses syndrome 1 multiple synostoses syndrome 2 multiple synostoses syndrome 3 multiple synostoses syndrome 4 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Thomsen disease congenital myopathy 2C congenital myopathy 8 congenital myopathy 15 congenital myopathy 16 congenital myopathy 18 spinal muscular atrophy, Jokela type isolated mitochondrial myopathy epidermolytic hyperkeratosis 1 distal myopathy with rimmed vacuoles Paget's disease of bone 2 Paget's disease of bone 3 Paget's disease of bone 4 Paget's disease of bone 6 lacrimoauriculodentodigital syndrome 2 lacrimoauriculodentodigital syndrome 3 nemaline myopathy 5C amyotrophic lateral sclerosis type 24 amyotrophic lateral sclerosis type 25 amyotrophic lateral sclerosis type 26 juvenile amyotrophic lateral sclerosis type 27 amyotrophic lateral sclerosis type 28 Harel-Yoon syndrome Vissers-Bodmer syndrome holoprosencephaly 12 familial focal epilepsy with variable foci Peroxisome biogenesis disorder 4B Nicolaides-Baraitser syndrome blepharophimosis-impaired intellectual development syndrome cone-rod dystrophy 24 Tietz syndrome renal coloboma syndrome autosomal dominant familial periodic fever split hand-foot malformation 1 split hand-foot malformation 4 CINCA Syndrome myoclonic dystonia 11 myoclonic dystonia 15 myoclonic dystonia 26 torsion dystonia 13 torsion dystonia 6 torsion dystonia 7 torsion dystonia 4 dopa-responsive dystonia dystonia 9 glucose transporter type 1 deficiency syndrome 2 dystonia 21 paroxysmal nonkinesigenic dyskinesia 2 paroxysmal nonkinesigenic dyskinesia 1 dystonia 23 dystonia 24 episodic kinesigenic dyskinesia 1 episodic kinesigenic dyskinesia 2 dystonia 25 dystonia 12 torsion dystonia with onset in infancy familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome 2 familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome 4 giant axonal neuropathy 2 hypogonadotropic hypogonadism 15 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia ocular albinism with sensorineural deafness autosomal dominant isolated macrothrombocytopenia 1 autosomal dominant hypocalcemia PCWH syndrome Sorsby's fundus dystrophy ankyloblepharon-ectodermal defects-cleft lip/palate syndrome hereditary neutrophilia brain small vessel disease 1 complex cortical dysplasia with other brain malformations cortisone reductase deficiency 2 autosomal dominant Alport syndrome Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 4 Alzheimer's disease 3 amelogenesis imperfecta type 1B amelogenesis imperfecta type 4 amelogenesis imperfecta type 1A amelogenesis imperfecta type 3A arrhythmogenic right ventricular dysplasia 1 arrhythmogenic right ventricular dysplasia 3 arrhythmogenic right ventricular dysplasia 4 arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular dysplasia 8 arrhythmogenic right ventricular dysplasia 9 arrhythmogenic right ventricular dysplasia 10 arrhythmogenic right ventricular dysplasia 12 arrhythmogenic right ventricular dysplasia 13 atrial heart septal defect 2 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 autoimmune lymphoproliferative syndrome type 2A autoimmune lymphoproliferative syndrome type 4 Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease, axonal type 2W Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2O Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease axonal type 2Z Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease dominant intermediate C Charcot-Marie-Tooth disease dominant intermediate D Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate F Leber congenital amaurosis 11 Brugada syndrome 1 Brugada syndrome 7 Brugada syndrome 9 cataract 32 multiple types cataract 8 multiple types cataract 6 multiple types cataract 1 multiple types cataract 29 cataract 4 multiple types cataract 2 multiple types cataract 39 multiple types cataract 42 cataract 12 multiple types cataract 20 multiple types cataract 41 cataract 30 cataract 11 multiple types cataract 16 multiple types cataract 15 multiple types cataract 37 cataract 14 multiple types cataract 5 multiple types cataract 21 multiple types cataract 24 cataract 10 multiple types cataract 43 cataract 7 cataract 33 cataract 31 multiple types cataract 9 multiple types cataract 22 multiple types cataract 3 multiple types cataract 17 multiple types autosomal dominant limb-girdle muscular dystrophy Leber congenital amaurosis 13 osteogenesis imperfecta type 1 osteogenesis imperfecta type 3 osteogenesis imperfecta type 4 osteogenesis imperfecta type 2 osteogenesis imperfecta type 5 retinitis pigmentosa 18 retinitis pigmentosa 35 retinitis pigmentosa 33 retinitis pigmentosa 4 retinitis pigmentosa 7 retinitis pigmentosa 63 retinitis pigmentosa 42 retinitis pigmentosa 9 retinitis pigmentosa 10 retinitis pigmentosa 1 retinitis pigmentosa 70 retinitis pigmentosa 27 retinitis pigmentosa 37 retinitis pigmentosa 13 retinitis pigmentosa 17 retinitis pigmentosa 11 retinitis pigmentosa 60 dominant pericentral pigmentary retinopathy dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1A dilated cardiomyopathy 1D dilated cardiomyopathy 1V dilated cardiomyopathy 1AA dilated cardiomyopathy 1NN dilated cardiomyopathy 1E dilated cardiomyopathy 1JJ dilated cardiomyopathy 1B dilated cardiomyopathy 1KK dilated cardiomyopathy 1DD dilated cardiomyopathy 1HH dilated cardiomyopathy 1II dilated cardiomyopathy 1S dilated cardiomyopathy 1U dilated cardiomyopathy 1R dilated cardiomyopathy 1Y congenital muscular dystrophy due to LMNA mutation long QT syndrome 1 long QT syndrome 2 long QT syndrome 3 long QT syndrome 5 long QT syndrome 6 long QT syndrome 8 long QT syndrome 9 long QT syndrome 10 long QT syndrome 11 long QT syndrome 12 long QT syndrome 13 long QT syndrome 14 long QT syndrome 15 congenital myasthenic syndrome 7 congenital myasthenic syndrome 1B congenital myasthenic syndrome 1A congenital myasthenic syndrome 3A congenital myasthenic syndrome 4A congenital myasthenic syndrome 2A congenital myasthenic syndrome 18 hypotrichosis 1 hypotrichosis 2 hypotrichosis 3 hypotrichosis 4 hypotrichosis 5 hypotrichosis 11 hypotrichosis 12 hypotrichosis 13 congenital stationary night blindness autosomal dominant 3 neuronal ceroid lipofuscinosis 4 neurodegeneration with brain iron accumulation 3 type 1 diabetes mellitus 2 hereditary spastic paraplegia 10 hereditary spastic paraplegia 12 hereditary spastic paraplegia 13 hereditary spastic paraplegia 17 hereditary spastic paraplegia 19 hereditary spastic paraplegia 29 hereditary spastic paraplegia 31 hereditary spastic paraplegia 33 hereditary spastic paraplegia 36 hereditary spastic paraplegia 37 hereditary spastic paraplegia 38 hereditary spastic paraplegia 3A hereditary spastic paraplegia 4 hereditary spastic paraplegia 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 6 hereditary spastic paraplegia 72A hereditary spastic paraplegia 73 hereditary spastic paraplegia 8 hereditary spastic paraplegia 9A retinitis pigmentosa-deafness syndrome posterior polymorphous corneal dystrophy 1 posterior polymorphous corneal dystrophy 2 congenital stationary night blindness autosomal dominant 1 congenital stationary night blindness autosomal dominant 2 holoprosencephaly 2 holoprosencephaly 9 holoprosencephaly 3 holoprosencephaly 7 holoprosencephaly 11 holoprosencephaly 5 holoprosencephaly 4 holoprosencephaly 1 inflammatory bowel disease 3 inflammatory bowel disease 21 hereditary spherocytosis type 1 hereditary spherocytosis type 2 hereditary spherocytosis type 4 nemaline myopathy 4 nemaline myopathy 6 autosomal dominant osteopetrosis 1 autosomal dominant osteopetrosis 2 brachydactyly type A1 brachydactyly type A2 brachydactyly type C brachydactyly type D CADASIL 1 CADASIL 2 platelet-type bleeding disorder 9 platelet-type bleeding disorder 14 platelet-type bleeding disorder 17 platelet-type bleeding disorder 15 platelet-type bleeding disorder 20 platelet-type bleeding disorder 3 platelet-type bleeding disorder 12 progressive familial heart block type IA progressive familial heart block type II progressive familial heart block type IB tibial muscular dystrophy Fanconi anemia complementation group R focal segmental glomerulosclerosis 1 focal segmental glomerulosclerosis 2 focal segmental glomerulosclerosis 5 focal segmental glomerulosclerosis 7 focal segmental glomerulosclerosis 8 autosomal dominant isolated ectopia lentis 1 SADDAN Crouzon syndrome-acanthosis nigricans syndrome sepiapterin reductase deficiency autosomal dominant sensory ataxia 1 distal myopathy 3 distal myopathy Tateyama type erythrokeratodermia variabilis et progressiva 1 autosomal dominant distal hereditary motor neuronopathy autosomal dominant centronuclear myopathy hypertension and brachydactyly syndrome cerebrocostomandibular syndrome uveal coloboma-cleft lip and palate-intellectual disability Parkinson's disease 3 Parkinson's disease 21 vestibular schwannomatosis neurofibromatosis 1 hyperferritinemia-cataract syndrome autosomal dominant hyaline body myopathy speech-language disorder-1 intellectual disability-severe speech delay-mild dysmorphism syndrome craniofacial-deafness-hand syndrome isolated elevated serum creatine phosphokinase levels Vohwinkel syndrome dominant optic atrophy plus syndrome primary failure of tooth eruption dermatopathia pigmentosa reticularis lateral meningocele syndrome epidermolysis bullosa simplex with mottled pigmentation epidermolysis bullosa with congenital localized absence of skin and deformity of nails multiple epiphyseal dysplasia with myopia and deafness Laurin-Sandrow syndrome D-2-hydroxyglutaric aciduria 2 adermatoglyphia Floating-Harbor syndrome hypotrichosis-lymphedema-telangiectasia-renal defect syndrome hawkinsinuria Heinz body anemia Alzheimer's disease 9 benign familial hematuria Beukes hip dysplasia hyperalphalipoproteinemia 1 apolipoprotein C-III deficiency familial progressive hyperpigmentation with or without hypopigmentation selective pituitary thyroid hormone resistance solitary median maxillary central incisor IVIC syndrome ischiocoxopodopatellar syndrome autosomal dominant keratitis inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 congenital dyserythropoietic anemia type IV mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations exudative vitreoretinopathy 5 exudative vitreoretinopathy 3 exudative vitreoretinopathy 6 exudative vitreoretinopathy 1 familial apolipoprotein A5 deficiency essential tremor 1 essential tremor 2 essential tremor 4 essential tremor 5 optic atrophy 3 optic atrophy 10 optic atrophy 5 optic atrophy 8 optic atrophy 4 optic atrophy 1 progressive myoclonus epilepsy 7 SHORT syndrome STING-associated vasculopathy with onset in infancy cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome 4 palmoplantar keratoderma-deafness syndrome palmoplantar keratoderma-esophageal carcinoma syndrome Lenz-Majewski hyperostotic dwarfism lymphedema-distichiasis syndrome melanoma and neural system tumor syndrome metachondromatosis metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome metatropic dysplasia autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 autosomal dominant progressive external ophthalmoplegia 1 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 Mullerian aplasia and hyperandrogenism Naegeli-Franceschetti-Jadassohn syndrome bilateral optic nerve hypoplasia osteoglophonic dysplasia gnathodiaphyseal dysplasia multicentric carpotarsal osteolysis syndrome progressive osseous heteroplasia Buschke-Ollendorff syndrome paroxysmal extreme pain disorder paramyotonia congenita of Von Eulenburg parastremmatic dwarfism pigmented paravenous chorioretinal atrophy familial expansile osteolysis juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Guttmacher syndrome familial male-limited precocious puberty Currarino syndrome retinal arterial tortuosity ring dermoid of cornea aplasia of lacrimal and salivary glands scalp-ear-nipple syndrome neurogenic scapuloperoneal syndrome Kaeser type scapuloperoneal spinal muscular atrophy spondyloepiphyseal dysplasia Maroteaux type spondylometaphyseal dysplasia Kozlowski type steatocystoma multiplex Charcot-Marie-Tooth disease type 2DD Charcot-Marie-Tooth disease type 1G stiff skin syndrome overhydrated hereditary stomatocytosis hypoplastic or aplastic tibia with polydactyly trichodontoosseous syndrome retinal vasculopathy with cerebral leukodystrophy congenital vertical talus autosomal dominant vitreoretinochoroidopathy snowflake vitreoretinal degeneration Weyers acrofacial dysostosis autosomal dominant woolly hair dehydrated hereditary stomatocytosis 1 dehydrated hereditary stomatocytosis 2 C syndrome dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome distal arthrogryposis type 10 congenital contractural arachnodactyly distal arthrogryposis type 1A distal arthrogryposis type 1B distal arthrogryposis type 2B1 distal arthrogryposis type 2B2 distal arthrogryposis type 2B3 distal arthrogryposis type 7 distal arthrogryposis type 2A distal arthrogryposis type 3 distal arthrogryposis type 5 Schopf-Schulz-Passarge syndrome ectodermal dysplasia 12 ectodermal dysplasia 11A ectodermal dysplasia 10A Saul-Wilson syndrome neurooculocardiogenitourinary syndrome diffuse cystic renal dysplasia neurofibromatosis-Noonan syndrome hereditary mixed polyposis syndrome 2 Ayme-Gripp syndrome familial adult myoclonic epilepsy 1 familial adult myoclonic epilepsy 2 familial adult myoclonic epilepsy 4 familial adult myoclonic epilepsy 7 familial adult myoclonic epilepsy 3 familial adult myoclonic epilepsy 6 cleft palate, cardiac defects, and intellectual disabillity ankyrin-B-related cardiac arrhythmia long QT syndrome 4 oblique facial clefting 1 Bothnian type palmoplantar keratoderma focal nonepidermolytic palmoplantar keratoderma 1 focal or diffuse nonepidermolytic palmoplantar keratoderma focal nonepidermolytic palmoplantar keratoderma 2 geleophysic dysplasia 2 geleophysic dysplasia 3 familial episodic pain syndrome 1 familial episodic pain syndrome 2 familial episodic pain syndrome 3 pancreatic hypoplasia-diabetes-congenital heart disease syndrome 46,XX sex reversal 2 46,XX sex reversal 4 46,XY sex reversal 6 46,XY sex reversal 9 46,XY sex reversal 3 46,XY sex reversal 10 frontometaphyseal dysplasia 2 congenital nystagmus 7 congenital nystagmus 2 congenital nystagmus 3 syndromic microphthalmia 3 syndromic microphthalmia 6 syndromic microphthalmia 5 syndactyly type 1 syndactyly type 3 syndactyly type 4 syndactyly type 5 autosomal dominant Aarskog syndrome congenital nongoitrous hypothyroidism 8 primary ciliary dyskinesia 43 Diamond-Blackfan anemia 7 Diamond-Blackfan anemia 6 Diamond-Blackfan anemia 17 Diamond-Blackfan anemia 8 Diamond-Blackfan anemia 12 Diamond-Blackfan anemia 5 Diamond-Blackfan anemia 9 Diamond-Blackfan anemia 2 Diamond-Blackfan anemia 19 Diamond-blackfan anemia 3 Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 13 Diamond-Blackfan anemia 4 Diamond-Blackfan anemia 20 Diamond-Blackfan anemia 11 Diamond-Blackfan anemia 16 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia 1 Diamond-Blackfan anemia 18 autosomal dominant thrombophilia due to protein S deficiency heparin cofactor II deficiency thrombophilia due to activated protein C resistance thrombophilia due to HRG deficiency thrombophilia due to thrombin defect autosomal dominant thrombophilia due to protein C deficiency spermatogenic failure 36 spermatogenic failure 32 syndactyly-telecanthus-anogenital and renal malformations syndrome immunodeficiency 14 immunodeficiency 31A immunodeficiency 31C immunodeficiency 21 immunodeficiency 36 immunodeficiency 60 immunodeficiency 27B immunodeficiency 11B immunodeficiency 15A immunodeficiency 39 immunodeficiency 49 immunodeficiency 32A immunodeficiency 13 immunodeficiency 70 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques congenital megabladder immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis Sotos syndrome 2 Sotos syndrome 1 autosomal dominant severe congenital neutropenia severe congenital neutropenia 8 retinitis pigmentosa 83 retinitis pigmentosa 87 retinitis pigmentosa 89 terminal osseous dysplasia inflammatory bowel disease 30 inflammatory bowel disease 29 Noonan syndrome 13 Noonan syndrome 11 Noonan syndrome 12 spondyloperipheral dysplasia spondyloepimetaphyseal dysplasia with joint laxity type 2 developmental and epileptic encephalopathy 67 developmental and epileptic encephalopathy 69 developmental and epileptic encephalopathy 70 developmental and epileptic encephalopathy 72 developmental and epileptic encephalopathy 73 developmental and epileptic encephalopathy 74 developmental and epileptic encephalopathy 78 developmental and epileptic encephalopathy 79 developmental and epileptic encephalopathy 87 Bosch-Boonstra-Schaaf optic atrophy syndrome lissencephaly 9 with complex brainstem malformation lissencephaly 10 lissencephaly 3 lissencephaly 1 Leber congenital amaurosis with early-onset deafness congenital symmetric circumferential skin creases 1 congenital symmetric circumferential skin creases 2 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder leucine-sensitive hypoglycemia of infancy hypoinsulinemic hypoglycemia with hemihypertrophy developmental and epileptic encephalopathy 93 neurodevelopmental disorder with involuntary movements spondyloepiphyseal dysplasia Stanescu type spondyloepiphyseal dysplasia Kimberley type autosomal dominant spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia Nishimura type spondylometaphyseal dysplasia corner fracture type central precocious puberty 2 central precocious puberty 1 brain small vessel disease 2 Tatton-Brown-Rahman syndrome hereditary spastic paraplegia 80 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Coffin-Siris syndrome 8 Coffin-Siris syndrome 5 Coffin-Siris syndrome 7 Coffin-Siris syndrome 12 Coffin-Siris syndrome 10 Coffin-Siris syndrome 11 autosomal dominant auditory neuropathy 3 KINSSHIP syndrome multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 1 dysplastic nevus syndrome amyotrophic neuralgia juvenile glaucoma age related macular degeneration DiGeorge syndrome blue color blindness otosclerosis granular corneal dystrophy neurohypophyseal diabetes insipidus hereditary hemorrhagic telangiectasia fibrodysplasia ossificans progressiva Moebius syndrome tuberous sclerosis cleidocranial dysplasia Noonan syndrome with multiple lentigines autosomal dominant cerebellar ataxia Axenfeld-Rieger syndrome Clouston syndrome branchiootorenal syndrome Pfeiffer syndrome Ehlers-Danlos syndrome classic type 1 autosomal dominant microcephaly Weaver syndrome hereditary angioedema trichorhinophalangeal syndrome type I vascular type Ehlers-Danlos syndrome Greig cephalopolysyndactyly syndrome Larsen syndrome Saethre-Chotzen syndrome spondyloepiphyseal dysplasia congenita ichthyosis vulgaris cherubism Williams-Beuren syndrome Rubinstein-Taybi syndrome hereditary multiple exostoses glomangioma Hajdu-Cheney syndrome Treacher Collins syndrome Li-Fraumeni syndrome schwannomatosis hyper IgE recurrent infection syndrome 1 piebaldism congenital myopathy 1A antithrombin III deficiency protein C deficiency Denys-Drash syndrome Lynch syndrome progeria dentinogenesis imperfecta Alexander disease trichorhinophalangeal syndrome type II hereditary breast ovarian cancer syndrome malignant hyperthermia neurofibromatosis lattice corneal dystrophy autosomal dominant polycystic kidney disease Pallister-Hall syndrome Waardenburg syndrome nail-patella syndrome Pelger-Huet anomaly