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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autosomal dominant disease
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Accession:DOID:0050736 term browser browse the term
Definition:An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO)
Synonyms:primary_id: RDO:9002039
For additional species annotation, visit the Alliance of Genome Resources.


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      disease 17160
        Developmental Disease 10925
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
            genetic disease 8960
              monogenic disease 7128
                autosomal genetic disease 6280
                  autosomal dominant disease 4456
                    3p deletion syndrome 0
                    46,XX sex reversal 2 1
                    46,XX sex reversal 4 1
                    46,XX sex reversal 5 1
                    46,XY sex reversal 10 1
                    46,XY sex reversal 3 3
                    46,XY sex reversal 6 1
                    46,XY sex reversal 9 1
                    ADULT syndrome 1
                    APP-related cerebral amyloid angiopathy 1
                    Alexander disease 1
                    Alzheimer's disease 1 + 5
                    Alzheimer's disease 2 1
                    Alzheimer's disease 3 + 4
                    Alzheimer's disease 4 3
                    Alzheimer's disease 5 0
                    Alzheimer's disease 9 1
                    Andersen-Tawil syndrome 2
                    Autosomal Dominant Dyskeratosis Congenita + 9
                    Axenfeld-Rieger syndrome + 29
                    Ayme-Gripp syndrome 1
                    Bainbridge-Ropers syndrome 1
                    Bart-Pumphrey syndrome 1
                    Beare-Stevenson cutis gyrata syndrome 1
                    Beukes hip dysplasia 2
                    Birk-Barel syndrome 1
                    Birt-Hogg-Dube syndrome 1
                    Blau syndrome 1
                    Bosch-Boonstra-Schaaf optic atrophy syndrome 4
                    Bothnian type palmoplantar keratoderma 1
                    Brooke-Spiegler syndrome 1
                    Brugada syndrome 1 7
                    Brugada syndrome 7 1
                    Brugada syndrome 9 2
                    Buschke-Ollendorff syndrome 2
                    C syndrome 1
                    CADASIL 1 1
                    CADASIL 2 1
                    CINCA syndrome 1
                    COL4A1-related familial vascular leukoencephalopathy 2
                    CST3-related cerebral amyloid angiopathy + 3
                    Carney complex + 3
                    Carney-Stratakis syndrome 23
                    Charcot-Marie-Tooth disease axonal type 2C 3
                    Charcot-Marie-Tooth disease axonal type 2CC 1
                    Charcot-Marie-Tooth disease axonal type 2F 1
                    Charcot-Marie-Tooth disease axonal type 2K 6
                    Charcot-Marie-Tooth disease axonal type 2L 1
                    Charcot-Marie-Tooth disease axonal type 2N 1
                    Charcot-Marie-Tooth disease axonal type 2O 2
                    Charcot-Marie-Tooth disease axonal type 2P 1
                    Charcot-Marie-Tooth disease axonal type 2Q 1
                    Charcot-Marie-Tooth disease axonal type 2T 2
                    Charcot-Marie-Tooth disease axonal type 2U 1
                    Charcot-Marie-Tooth disease axonal type 2V 1
                    Charcot-Marie-Tooth disease axonal type 2Z 1
                    Charcot-Marie-Tooth disease dominant intermediate A 0
                    Charcot-Marie-Tooth disease dominant intermediate B + 1
                    Charcot-Marie-Tooth disease dominant intermediate C 175
                    Charcot-Marie-Tooth disease dominant intermediate D 1
                    Charcot-Marie-Tooth disease dominant intermediate E 1
                    Charcot-Marie-Tooth disease dominant intermediate F 1
                    Charcot-Marie-Tooth disease dominant intermediate G 1
                    Charcot-Marie-Tooth disease type 1A 6
                    Charcot-Marie-Tooth disease type 1B 2
                    Charcot-Marie-Tooth disease type 1C 2
                    Charcot-Marie-Tooth disease type 1D 1
                    Charcot-Marie-Tooth disease type 1E 2
                    Charcot-Marie-Tooth disease type 1F 1
                    Charcot-Marie-Tooth disease type 1G 1
                    Charcot-Marie-Tooth disease type 2A1 1
                    Charcot-Marie-Tooth disease type 2A2A 1
                    Charcot-Marie-Tooth disease type 2B 3
                    Charcot-Marie-Tooth disease type 2D 1
                    Charcot-Marie-Tooth disease type 2DD 1
                    Charcot-Marie-Tooth disease type 2E 2
                    Charcot-Marie-Tooth disease type 2I 1
                    Charcot-Marie-Tooth disease type 2J 1
                    Charcot-Marie-Tooth disease type 2Y 1
                    Charcot-Marie-Tooth disease type 3 5
                    Charcot-Marie-Tooth disease type 4E 3
                    Charcot-Marie-Tooth disease type 5 1
                    Charcot-Marie-Tooth disease, axonal type 2W 1
                    Clouston syndrome 3
                    Cornelia de Lange syndrome 1 7
                    Cornelia de Lange syndrome 3 1
                    Cornelia de Lange syndrome 4 2
                    Costello syndrome 9
                    Crouzon syndrome-acanthosis nigricans syndrome 1
                    Culler-Jones syndrome 1
                    Currarino syndrome 56
                    D-2-hydroxyglutaric aciduria 2 1
                    Denys-Drash syndrome 8
                    DiGeorge syndrome + 80
                    Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
                    Diamond-Blackfan anemia 1 3
                    Diamond-Blackfan anemia 10 2
                    Diamond-Blackfan anemia 11 1
                    Diamond-Blackfan anemia 12 2
                    Diamond-Blackfan anemia 13 1
                    Diamond-Blackfan anemia 16 1
                    Diamond-Blackfan anemia 17 1
                    Diamond-Blackfan anemia 18 1
                    Diamond-Blackfan anemia 19 1
                    Diamond-Blackfan anemia 2 0
                    Diamond-Blackfan anemia 20 1
                    Diamond-Blackfan anemia 3 2
                    Diamond-Blackfan anemia 4 1
                    Diamond-Blackfan anemia 5 2
                    Diamond-Blackfan anemia 6 2
                    Diamond-Blackfan anemia 7 1
                    Diamond-Blackfan anemia 8 1
                    Diamond-Blackfan anemia 9 2
                    Doyne honeycomb retinal dystrophy 2
                    Dravet syndrome 18
                    Duane-radial ray syndrome 1
                    EEC syndrome + 1
                    Ehlers-Danlos syndrome arthrochalasia type 1 4
                    Ehlers-Danlos syndrome arthrochalasia type 2 2
                    Ehlers-Danlos syndrome classic type 1 68
                    Ehlers-Danlos syndrome classic type 2 2
                    Ehlers-Danlos syndrome periodontal type 1 2
                    Ehlers-Danlos syndrome periodontal type 2 2
                    Fanconi anemia complementation group R 1
                    Fanconi renotubular syndrome 1 2
                    Fanconi renotubular syndrome 3 1
                    Fanconi renotubular syndrome 4 1
                    Feingold syndrome + 1
                    Floating-Harbor syndrome 1
                    Frasier syndrome 1
                    GRN-related frontotemporal lobar degeneration with TDP43 inclusions 13
                    Greig cephalopolysyndactyly syndrome 1
                    Guttmacher syndrome 1
                    Hailey-Hailey disease 1
                    Hajdu-Cheney syndrome 1
                    Heinz body anemia 4
                    Holt-Oram syndrome 4
                    ITM2B-related cerebral amyloid angiopathy 1 1
                    ITM2B-related cerebral amyloid angiopathy 2 1
                    IVIC syndrome 1
                    Jansen's metaphyseal chondrodysplasia 1
                    King Denborough syndrome 1
                    Kleefstra syndrome 1 77
                    Kleefstra syndrome 2 2
                    Klippel-Feil syndrome 1 2
                    Klippel-Feil syndrome 3 41
                    Kniest dysplasia 1
                    LADD syndrome 3
                    Larsen syndrome 2
                    Leber congenital amaurosis 11 1
                    Leber congenital amaurosis 13 16
                    Leber congenital amaurosis with early-onset deafness 1
                    Lenz-Majewski hyperostotic dwarfism 1
                    Li-Fraumeni syndrome + 31
                    Loeys-Dietz syndrome + 33
                    Lynch syndrome + 35
                    Meesmann corneal dystrophy 1 1
                    Meesmann corneal dystrophy 2 0
                    Meier-Gorlin syndrome 6 1
                    Miller-Dieker lissencephaly syndrome 5
                    Miura type epiphyseal chondrodysplasia 1
                    Mowat-Wilson syndrome 10
                    Muckle-Wells syndrome 2
                    Muenke syndrome 1
                    Mullerian aplasia and hyperandrogenism 1
                    NFIA-related disorder 1
                    Naegeli-Franceschetti-Jadassohn syndrome 1
                    Noonan syndrome 1 10
                    Noonan syndrome 10 1
                    Noonan syndrome 11 1
                    Noonan syndrome 12 1
                    Noonan syndrome 13 1
                    Noonan syndrome 3 7
                    Noonan syndrome 4 1
                    Noonan syndrome 5 2
                    Noonan syndrome 6 1
                    Noonan syndrome 7 1
                    Noonan syndrome 8 10
                    Noonan syndrome 9 8
                    Noonan syndrome with multiple lentigines + 9
                    Opitz GBBB syndrome type II 1
                    PAPA syndrome 2
                    Pallister-Hall syndrome + 2
                    Parkinson's disease 1 1
                    Parkinson's disease 17 2
                    Parkinson's disease 21 1
                    Parkinson's disease 22 1
                    Parkinson's disease 3 0
                    Parkinson's disease 4 1
                    Parkinson's disease 8 2
                    Pelger-Huet anomaly + 2
                    Perry syndrome 1
                    Pfeiffer syndrome 2
                    Pitt-Hopkins syndrome + 16
                    Rapp-Hodgkin syndrome 1
                    Romano-Ward Syndrome 13
                    Rubinstein-Taybi syndrome + 25
                    SADDAN 1
                    SHORT syndrome 1
                    STING-associated vasculopathy with onset in infancy 1
                    Saethre-Chotzen syndrome 3
                    Saul-Wilson syndrome 1
                    Schnyder corneal dystrophy 2
                    Schopf-Schulz-Passarge syndrome 1
                    Sorsby's fundus dystrophy 2
                    Sotos syndrome 1 1
                    Sotos syndrome 2 1
                    Stickler syndrome 1 1
                    Stickler syndrome 2 1
                    Stormorken syndrome 1
                    Sweeney-Cox syndrome 1
                    Thiel-Behnke corneal dystrophy 2
                    Tietz syndrome 1
                    Timothy syndrome 1
                    Townes-Brocks syndrome + 2
                    Treacher Collins syndrome + 4
                    Ullrich congenital muscular dystrophy + 4
                    Vohwinkel syndrome 1
                    WEISS-KRUSZKA SYNDROME 1
                    WHIM syndrome 2
                    Waardenburg's syndrome + 14
                    Weaver syndrome 3
                    Weyers acrofacial dysostosis 2
                    Williams-Beuren syndrome + 32
                    Worth syndrome 1
                    abdominal obesity-metabolic syndrome + 72
                    ablepharon macrostomia syndrome 1
                    achondrogenesis type II 1
                    acrofacial dysostosis Cincinnati type 1
                    acrokeratosis verruciformis 1
                    adermatoglyphia 1
                    adult-onset autosomal dominant demyelinating leukodystrophy 1
                    adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1
                    advanced sleep phase syndrome + 8
                    agammaglobulinemia 5 1
                    age related macular degeneration + 40
                    amelogenesis imperfecta type 1A 1
                    amelogenesis imperfecta type 1B 2
                    amelogenesis imperfecta type 3A 1
                    amelogenesis imperfecta type 3B 1
                    amelogenesis imperfecta type 4 1
                    ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
                    ankylosing spondylitis 2 0
                    ankyrin-B-related cardiac arrhythmia 1
                    anterior segment dysgenesis 1 4
                    anterior segment dysgenesis 4 1
                    antithrombin III deficiency 1
                    aortic valve disease 1 7
                    aortic valve disease 2 5
                    aortic valve disease 3 2
                    aplasia of lacrimal and salivary glands 1
                    apolipoprotein C-III deficiency + 1
                    arrhythmogenic right ventricular dysplasia 1 9
                    arrhythmogenic right ventricular dysplasia 10 2
                    arrhythmogenic right ventricular dysplasia 12 1
                    arrhythmogenic right ventricular dysplasia 13 2
                    arrhythmogenic right ventricular dysplasia 14 1
                    arrhythmogenic right ventricular dysplasia 2 1
                    arrhythmogenic right ventricular dysplasia 3 0
                    arrhythmogenic right ventricular dysplasia 4 0
                    arrhythmogenic right ventricular dysplasia 5 2
                    arrhythmogenic right ventricular dysplasia 8 1
                    arrhythmogenic right ventricular dysplasia 9 13
                    atrial heart septal defect 2 1
                    atrial heart septal defect 5 1
                    atrial heart septal defect 6 1
                    atrial heart septal defect 7 1
                    atrial heart septal defect 8 1
                    atrial heart septal defect 9 1
                    atrial standstill 1 3
                    autoimmune lymphoproliferative syndrome type 2A 0
                    autoimmune lymphoproliferative syndrome type 4 2
                    autosomal dominant Aarskog syndrome 0
                    autosomal dominant Alport syndrome 3
                    autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
                    autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
                    autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
                    autosomal dominant Robinow syndrome 1 5
                    autosomal dominant Robinow syndrome 2 4
                    autosomal dominant Robinow syndrome 3 2
                    autosomal dominant Wolfram syndrome 1
                    autosomal dominant beta thalassemia 1
                    autosomal dominant centronuclear myopathy + 9
                    autosomal dominant cerebellar ataxia + 80
                    autosomal dominant chondrodysplasia punctata + 0
                    autosomal dominant congenital deafness with onychodystrophy 1
                    autosomal dominant craniodiaphyseal dysplasia 1
                    autosomal dominant craniometaphyseal dysplasia 2
                    autosomal dominant cutis laxa + 3
                    autosomal dominant distal hereditary motor neuronopathy + 32
                    autosomal dominant dystrophic epidermolysis bullosa + 1
                    autosomal dominant familial periodic fever 2
                    autosomal dominant familial visceral neuropathy 1
                    autosomal dominant hyaline body myopathy 1
                    autosomal dominant hypocalcemia + 8
                    autosomal dominant hypophosphatemic rickets 1
                    autosomal dominant isolated ectopia lentis 1 2
                    autosomal dominant keratitis + 3
                    autosomal dominant limb-girdle muscular dystrophy + 8
                    autosomal dominant macrothrombocytopenia TUBB1-related 1
                    autosomal dominant mental retardation 55 1
                    autosomal dominant mental retardation 56 3
                    autosomal dominant microcephaly + 1
                    autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 2
                    autosomal dominant nocturnal frontal lobe epilepsy + 29
                    autosomal dominant non-syndromic intellectual disability + 318
                    autosomal dominant nonsyndromic deafness + 160
                    autosomal dominant osteopetrosis 1 1
                    autosomal dominant osteopetrosis 2 1
                    autosomal dominant polycystic kidney disease + 64
                    autosomal dominant progressive external ophthalmoplegia 1 3
                    autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
                    autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
                    autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 2
                    autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
                    autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 1
                    autosomal dominant pseudohypoaldosteronism type 1 4
                    autosomal dominant sensory ataxia 1 1
                    autosomal dominant severe congenital neutropenia + 2
                    autosomal dominant sideroblastic anemia 4 1
                    autosomal dominant spondyloepiphyseal dysplasia tarda 0
                    autosomal dominant thrombophilia due to protein S deficiency 4
                    autosomal dominant vitreoretinochoroidopathy 2
                    autosomal dominant woolly hair 0
                    benign familial hematuria 4
                    bilateral optic nerve hypoplasia 1
                    blepharocheilodontic syndrome + 2
                    blue color blindness 1
                    brachydactyly type A1 + 4
                    brachydactyly type A2 3
                    brachydactyly type C 1
                    brachydactyly type D 1
                    brachydactyly-syndactyly syndrome 1
                    branchiooculofacial syndrome 1
                    branchiootorenal syndrome + 10
                    bronchiectasis 1 2
                    bronchiectasis 2 2
                    bronchiectasis 3 1
                    bullous congenital ichthyosiform erythroderma 1
                    campomelic dysplasia + 1
                    cardiofaciocutaneous syndrome 1 3
                    cardiofaciocutaneous syndrome 2 1
                    cardiofaciocutaneous syndrome 3 1
                    cardiofaciocutaneous syndrome 4 1
                    cataract 1 multiple types 4
                    cataract 10 multiple types 1
                    cataract 11 multiple types + 2
                    cataract 12 multiple types 1
                    cataract 14 multiple types 8
                    cataract 15 multiple types 1
                    cataract 16 multiple types 1
                    cataract 17 multiple types 2
                    cataract 2 multiple types 2
                    cataract 20 multiple types 1
                    cataract 21 multiple types 3
                    cataract 22 multiple types 1
                    cataract 24 0
                    cataract 29 0
                    cataract 3 multiple types 1
                    cataract 30 1
                    cataract 31 multiple types 1
                    cataract 32 multiple types 0
                    cataract 33 2
                    cataract 37 0
                    cataract 39 multiple types 1
                    cataract 4 multiple types + 1
                    cataract 41 1
                    cataract 42 1
                    cataract 43 1
                    cataract 47 1
                    cataract 5 multiple types 3
                    cataract 6 multiple types 1
                    cataract 7 2
                    cataract 8 multiple types 0
                    cataract 9 multiple types 2
                    central core disease + 7
                    central precocious puberty 1 1
                    central precocious puberty 2 1
                    cerebrocostomandibular syndrome 1
                    cherubism + 10
                    childhood onset GLUT1 deficiency syndrome 2 1
                    chromosome 13q14 deletion syndrome 72
                    chromosome 15q11.2 deletion syndrome 25
                    chromosome 15q24 deletion syndrome 10
                    chromosome 15q25 deletion syndrome 0
                    chromosome 17p13.1 deletion syndrome 0
                    chromosome 17q11.2 deletion syndrome 1
                    chromosome 17q12 deletion syndrome 18
                    chromosome 18p deletion syndrome 49
                    chromosome 18q deletion syndrome 56
                    chromosome 19p13.13 deletion syndrome 0
                    chromosome 19q13.11 deletion syndrome 1
                    chromosome 5q12 deletion syndrome 0
                    cleft palate, cardiac defects, and intellectual disabillity 1
                    cleidocranial dysplasia + 7
                    complex cortical dysplasia with other brain malformations + 1194
                    congenital adrenal insufficiency 1
                    congenital central hypoventilation syndrome 8
                    congenital contractural arachnodactyly 1
                    congenital diarrhea 6 2
                    congenital dyserythropoietic anemia type IV 1
                    congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
                    congenital megabladder 1
                    congenital muscular dystrophy due to LMNA mutation 1
                    congenital myasthenic syndrome 18 1
                    congenital myasthenic syndrome 1A 2
                    congenital myasthenic syndrome 1B 3
                    congenital myasthenic syndrome 2A 1
                    congenital myasthenic syndrome 3A 1
                    congenital myasthenic syndrome 4A 6
                    congenital myasthenic syndrome 7 1
                    congenital nongoitrous hypothyroidism 2 1
                    congenital nongoitrous hypothyroidism 3 0
                    congenital nongoitrous hypothyroidism 5 1
                    congenital nongoitrous hypothyroidism 6 2
                    congenital nongoitrous hypothyroidism 8 1
                    congenital nystagmus 2 0
                    congenital nystagmus 3 0
                    congenital nystagmus 4 0
                    congenital nystagmus 7 0
                    congenital stationary night blindness autosomal dominant 1 1
                    congenital stationary night blindness autosomal dominant 2 1
                    congenital stationary night blindness autosomal dominant 3 1
                    congenital symmetric circumferential skin creases 1 1
                    congenital symmetric circumferential skin creases 2 1
                    congenital vertical talus 1
                    cortisone reductase deficiency 2 1
                    craniofacial-deafness-hand syndrome 1
                    dehydrated hereditary stomatocytosis 1 2
                    dehydrated hereditary stomatocytosis 2 1
                    delta beta-thalassemia + 4
                    dermatopathia pigmentosa reticularis 1
                    developmental and epileptic encephalopathy 11 7
                    developmental and epileptic encephalopathy 13 1
                    developmental and epileptic encephalopathy 14 73
                    developmental and epileptic encephalopathy 17 1
                    developmental and epileptic encephalopathy 19 1
                    developmental and epileptic encephalopathy 24 1
                    developmental and epileptic encephalopathy 26 6
                    developmental and epileptic encephalopathy 27 2
                    developmental and epileptic encephalopathy 30 18
                    developmental and epileptic encephalopathy 31 33
                    developmental and epileptic encephalopathy 32 1
                    developmental and epileptic encephalopathy 33 46
                    developmental and epileptic encephalopathy 4 4
                    developmental and epileptic encephalopathy 41 1
                    developmental and epileptic encephalopathy 42 2
                    developmental and epileptic encephalopathy 43 1
                    developmental and epileptic encephalopathy 45 1
                    developmental and epileptic encephalopathy 46 1
                    developmental and epileptic encephalopathy 47 1
                    developmental and epileptic encephalopathy 5 1
                    developmental and epileptic encephalopathy 54 1
                    developmental and epileptic encephalopathy 56 1
                    developmental and epileptic encephalopathy 57 1
                    developmental and epileptic encephalopathy 58 1
                    developmental and epileptic encephalopathy 59 1
                    developmental and epileptic encephalopathy 62 1
                    developmental and epileptic encephalopathy 65 1
                    developmental and epileptic encephalopathy 66 2
                    developmental and epileptic encephalopathy 67 2
                    developmental and epileptic encephalopathy 69 1
                    developmental and epileptic encephalopathy 7 2
                    developmental and epileptic encephalopathy 70 2
                    developmental and epileptic encephalopathy 72 1
                    developmental and epileptic encephalopathy 73 1
                    developmental and epileptic encephalopathy 74 1
                    developmental and epileptic encephalopathy 78 1
                    developmental and epileptic encephalopathy 79 1
                    developmental and epileptic encephalopathy 87 2
                    developmental and epileptic encephalopathy 91 1
                    developmental and epileptic encephalopathy 92 1
                    developmental and epileptic encephalopathy 93 1
                    dextro-looped transposition of the great arteries 1 4
                    dextro-looped transposition of the great arteries 3 2
                    diaphyseal medullary stenosis with malignant fibrous histiocytoma 1
                    diffuse cystic renal dysplasia 1
                    dilated cardiomyopathy 1A 26
                    dilated cardiomyopathy 1AA 3
                    dilated cardiomyopathy 1B 30
                    dilated cardiomyopathy 1C 1
                    dilated cardiomyopathy 1CC 1
                    dilated cardiomyopathy 1D 1
                    dilated cardiomyopathy 1DD 2
                    dilated cardiomyopathy 1E 1
                    dilated cardiomyopathy 1HH 1
                    dilated cardiomyopathy 1II 1
                    dilated cardiomyopathy 1JJ 1
                    dilated cardiomyopathy 1KK 1
                    dilated cardiomyopathy 1NN 1
                    dilated cardiomyopathy 1R 1
                    dilated cardiomyopathy 1S 14
                    dilated cardiomyopathy 1U 1
                    dilated cardiomyopathy 1V 1
                    dilated cardiomyopathy 1Y 1
                    dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
                    distal arthrogryposis type 10 0
                    distal arthrogryposis type 1A 23
                    distal arthrogryposis type 1B 1
                    distal arthrogryposis type 2A 1
                    distal arthrogryposis type 2B1 2
                    distal arthrogryposis type 2B2 1
                    distal arthrogryposis type 2B3 1
                    distal arthrogryposis type 3 1
                    distal arthrogryposis type 5 1
                    distal arthrogryposis type 7 2
                    distal myopathy 1 2
                    dominant optic atrophy plus syndrome 1
                    dominant pericentral pigmentary retinopathy 0
                    dysplastic nevus syndrome + 3
                    dystonia 12 2
                    dystonia 21 0
                    dystonia 23 1
                    dystonia 24 1
                    dystonia 25 1
                    dystonia 5 3
                    dystonia 9 1
                    dystransthyretinemic hyperthyroxinemia 1
                    ectodermal dysplasia 10A 4
                    ectodermal dysplasia 11A 1
                    ectodermal dysplasia 12 1
                    epidermolysis bullosa simplex Dowling-Meara type 2
                    epidermolysis bullosa simplex Ogna type 1
                    epidermolysis bullosa simplex generalized type + 3
                    epidermolysis bullosa simplex localized type 4
                    epidermolysis bullosa simplex with mottled pigmentation 1
                    episodic kinesigenic dyskinesia 1 24
                    episodic kinesigenic dyskinesia 2 0
                    epithelial basement membrane dystrophy 1
                    epithelial recurrent erosion dystrophy 1
                    erythrokeratodermia variabilis et progressiva 1 2
                    erythrokeratodermia variabilis et progressiva 2 1
                    erythrokeratodermia variabilis et progressiva 3 1
                    erythrokeratodermia variabilis et progressiva 6 1
                    essential tremor 1 3
                    essential tremor 2 1
                    essential tremor 4 1
                    essential tremor 5 1
                    exudative vitreoretinopathy 1 18
                    exudative vitreoretinopathy 3 0
                    exudative vitreoretinopathy 5 1
                    exudative vitreoretinopathy 6 1
                    exudative vitreoretinopathy 7 1
                    familial Behcet-like autoinflammatory syndrome 1
                    familial adenomatous polyposis 1 362
                    familial adult myoclonic epilepsy 1 1
                    familial adult myoclonic epilepsy 2 2
                    familial adult myoclonic epilepsy 3 1
                    familial adult myoclonic epilepsy 4 1
                    familial adult myoclonic epilepsy 6 1
                    familial adult myoclonic epilepsy 7 1
                    familial apolipoprotein A5 deficiency 1
                    familial cold autoinflammatory syndrome 1 1
                    familial cold autoinflammatory syndrome 2 3
                    familial cold autoinflammatory syndrome 3 1
                    familial cold autoinflammatory syndrome 4 1
                    familial encephalopathy with neuroserpin inclusion bodies 3
                    familial episodic pain syndrome 1 1
                    familial episodic pain syndrome 2 1
                    familial episodic pain syndrome 3 1
                    familial erythrocytosis 1 4
                    familial erythrocytosis 3 1
                    familial erythrocytosis 5 1
                    familial expansile osteolysis 1
                    familial hypocalciuric hypercalcemia + 3
                    familial juvenile hyperuricemic nephropathy + 6
                    familial male-limited precocious puberty 3
                    familial partial lipodystrophy type 2 1
                    familial partial lipodystrophy type 3 2
                    familial partial lipodystrophy type 4 1
                    familial progressive hyperpigmentation with or without hypopigmentation 1
                    familial temporal lobe epilepsy 1 10
                    familial temporal lobe epilepsy 2 1
                    familial temporal lobe epilepsy 3 1
                    familial temporal lobe epilepsy 4 0
                    familial temporal lobe epilepsy 5 1
                    familial temporal lobe epilepsy 6 0
                    familial temporal lobe epilepsy 7 2
                    familial temporal lobe epilepsy 8 254
                    familial visceral amyloidosis 4
                    fibrochondrogenesis 2 1
                    fibrodysplasia ossificans progressiva 3
                    focal nonepidermolytic palmoplantar keratoderma 1 2
                    focal nonepidermolytic palmoplantar keratoderma 2 2
                    focal or diffuse nonepidermolytic palmoplantar keratoderma 1
                    focal segmental glomerulosclerosis 1 4
                    focal segmental glomerulosclerosis 2 1
                    focal segmental glomerulosclerosis 5 1
                    focal segmental glomerulosclerosis 7 1
                    focal segmental glomerulosclerosis 8 1
                    frontometaphyseal dysplasia 2 1
                    geleophysic dysplasia 2 1
                    geleophysic dysplasia 3 1
                    giant axonal neuropathy 2 1
                    gingival fibromatosis 5 1
                    gnathodiaphyseal dysplasia 1
                    granular corneal dystrophy + 1
                    growth hormone insensitivity syndrome with immune dysregulation 2 1
                    hand-foot-genital syndrome 1
                    hawkinsinuria 1
                    heparin cofactor II deficiency 2
                    hereditary angioedema + 10
                    hereditary breast ovarian cancer syndrome 140
                    hereditary diffuse gastric cancer 4
                    hereditary hemorrhagic telangiectasia + 12
                    hereditary lymphedema IA 2
                    hereditary lymphedema IB 0
                    hereditary lymphedema IC 1
                    hereditary lymphedema ID 1
                    hereditary lymphedema II 0
                    hereditary mixed polyposis syndrome 2 1
                    hereditary multiple exostoses + 9
                    hereditary neuropathy with liability to pressure palsies 3
                    hereditary neutrophilia 1
                    hereditary sensory and autonomic neuropathy type 1A 1
                    hereditary sensory and autonomic neuropathy type 1C 9
                    hereditary sensory and autonomic neuropathy type 7 3
                    hereditary sensory neuropathy type 1B 0
                    hereditary sensory neuropathy type 1D 1
                    hereditary sensory neuropathy type 1E 2
                    hereditary sensory neuropathy type 1F 1
                    hereditary spastic paraplegia 10 10
                    hereditary spastic paraplegia 12 1
                    hereditary spastic paraplegia 13 1
                    hereditary spastic paraplegia 17 1
                    hereditary spastic paraplegia 19 0
                    hereditary spastic paraplegia 29 0
                    hereditary spastic paraplegia 31 1
                    hereditary spastic paraplegia 33 2
                    hereditary spastic paraplegia 36 0
                    hereditary spastic paraplegia 37 0
                    hereditary spastic paraplegia 38 0
                    hereditary spastic paraplegia 3A 2
                    hereditary spastic paraplegia 4 8
                    hereditary spastic paraplegia 41 0
                    hereditary spastic paraplegia 42 1
                    hereditary spastic paraplegia 6 4
                    hereditary spastic paraplegia 72 1
                    hereditary spastic paraplegia 73 1
                    hereditary spastic paraplegia 8 5
                    hereditary spherocytosis type 1 4
                    hereditary spherocytosis type 2 1
                    hereditary spherocytosis type 4 1
                    holoprosencephaly 1 5
                    holoprosencephaly 11 1
                    holoprosencephaly 2 1
                    holoprosencephaly 3 2
                    holoprosencephaly 4 1
                    holoprosencephaly 5 41
                    holoprosencephaly 7 1
                    holoprosencephaly 9 1
                    hyper IgE recurrent infection syndrome 1 3
                    hyperalphalipoproteinemia 1 0
                    hyperekplexia 1 2
                    hyperekplexia 3 1
                    hyperferritinemia-cataract syndrome 2
                    hypertension and brachydactyly syndrome 1
                    hypochondroplasia 1
                    hypogonadotropic hypogonadism 14 with or without anosmia 1
                    hypogonadotropic hypogonadism 15 with or without anosmia 1
                    hypogonadotropic hypogonadism 16 with or without anosmia 1
                    hypogonadotropic hypogonadism 17 with or without anosmia 1
                    hypogonadotropic hypogonadism 18 with or without anosmia 1
                    hypogonadotropic hypogonadism 19 with or without anosmia 1
                    hypogonadotropic hypogonadism 2 with or without anosmia + 1
                    hypogonadotropic hypogonadism 20 with or without anosmia 1
                    hypogonadotropic hypogonadism 21 with or without anosmia 2
                    hypogonadotropic hypogonadism 3 with or without anosmia 1
                    hypogonadotropic hypogonadism 4 with or without anosmia 1
                    hypogonadotropic hypogonadism 5 with or without anosmia + 1
                    hypogonadotropic hypogonadism 6 with or without anosmia 1
                    hypogonadotropic hypogonadism 9 with or without anosmia 1
                    hypoinsulinemic hypoglycemia with hemihypertrophy 1
                    hypomyelinating leukodystrophy 6 1
                    hypophosphatemic nephrolithiasis/osteoporosis 1 2
                    hypophosphatemic nephrolithiasis/osteoporosis 2 1
                    hypoplastic or aplastic tibia with polydactyly 2
                    hypotrichosis 1 5
                    hypotrichosis 11 1
                    hypotrichosis 12 1
                    hypotrichosis 13 1
                    hypotrichosis 2 1
                    hypotrichosis 3 0
                    hypotrichosis 4 1
                    hypotrichosis 5 1
                    hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 2
                    ichthyosis vulgaris + 2
                    immunodeficiency 11B 1
                    immunodeficiency 13 1
                    immunodeficiency 14 13
                    immunodeficiency 15A 1
                    immunodeficiency 21 1
                    immunodeficiency 27B 1
                    immunodeficiency 31A 1
                    immunodeficiency 31C 2
                    immunodeficiency 32A 1
                    immunodeficiency 36 1
                    immunodeficiency 39 40
                    immunodeficiency 49 1
                    immunodeficiency 60 1
                    immunodeficiency 70 1
                    immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
                    immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 1
                    inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 1
                    inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 1
                    inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 1
                    inflammatory bowel disease 21 0
                    inflammatory bowel disease 29 1
                    inflammatory bowel disease 3 0
                    inflammatory bowel disease 30 1
                    intellectual disability-severe speech delay-mild dysmorphism syndrome 1
                    intracranial berry aneurysm 1 0
                    intracranial berry aneurysm 3 0
                    intrahepatic cholestasis of pregnancy 1 1
                    intrahepatic cholestasis of pregnancy 3 2
                    iridogoniodysgenesis syndrome + 2
                    ischiocoxopodopatellar syndrome 1
                    isolated elevated serum creatine phosphokinase levels 14
                    isolated microphthalmia 7 1
                    juvenile glaucoma 5
                    juvenile polyposis syndrome + 15
                    juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
                    lateral meningocele syndrome 1
                    lattice corneal dystrophy + 4
                    leucine-sensitive hypoglycemia of infancy 1
                    lissencephaly 1 1
                    lissencephaly 10 1
                    lissencephaly 3 + 3
                    lissencephaly 9 with complex brainstem malformation 1
                    long QT syndrome 1 16
                    long QT syndrome 10 + 38
                    long QT syndrome 11 1
                    long QT syndrome 12 1
                    long QT syndrome 13 1
                    long QT syndrome 14 1
                    long QT syndrome 15 1
                    long QT syndrome 2 7
                    long QT syndrome 3 1
                    long QT syndrome 4 1
                    long QT syndrome 5 1
                    long QT syndrome 6 6
                    long QT syndrome 9 3
                    lymphedema-distichiasis syndrome + 1
                    macrocephaly-autism syndrome 2
                    malignant hyperthermia + 12
                    mandibulofacial dysostosis, Guion-Almeida type 1
                    maturity-onset diabetes of the young + 26
                    mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1
                    megalencephalic leukoencephalopathy with subcortical cysts 2B 1
                    melanoma and neural system tumor syndrome 1
                    metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
                    metatropic dysplasia 1
                    microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
                    mitochondrial DNA depletion syndrome 12a 3
                    monilethrix + 3
                    multicentric carpotarsal osteolysis syndrome 1
                    multiple cutaneous and mucosal venous malformations 1
                    multiple endocrine neoplasia type 1 3
                    multiple endocrine neoplasia type 2A + 4
                    multiple endocrine neoplasia type 2B + 1
                    multiple endocrine neoplasia type 4 3
                    multiple epiphyseal dysplasia 1 1
                    multiple epiphyseal dysplasia 2 1
                    multiple epiphyseal dysplasia 3 1
                    multiple epiphyseal dysplasia 5 2
                    multiple epiphyseal dysplasia 6 1
                    multiple epiphyseal dysplasia with myopia and deafness 1
                    myoclonic dystonia 11 4
                    myoclonic dystonia 15 0
                    myoclonic dystonia 26 1
                    myofibrillar myopathy 1 42
                    myofibrillar myopathy 2 1
                    myofibrillar myopathy 4 1
                    myofibrillar myopathy 5 2
                    myofibrillar myopathy 6 2
                    nail-patella syndrome + 2
                    nemaline myopathy 1 1
                    nemaline myopathy 4 1
                    nemaline myopathy 6 41
                    nephrotic syndrome type 4 1
                    neurodegeneration with brain iron accumulation 3 2
                    neurodevelopmental disorder with involuntary movements 1
                    neurofibromatosis + 34
                    neurofibromatosis-Noonan syndrome 4
                    neurogenic scapuloperoneal syndrome Kaeser type 1
                    neurooculocardiogenitourinary syndrome 1
                    nevoid basal cell carcinoma syndrome + 10
                    nonsyndromic congenital nail disorder 1 2
                    nonsyndromic congenital nail disorder 2 0
                    nonsyndromic congenital nail disorder 3 1
                    nonsyndromic congenital nail disorder 5 0
                    nonsyndromic congenital nail disorder 6 0
                    nonsyndromic congenital nail disorder 7 0
                    nonsyndromic congenital nail disorder 8 1
                    oblique facial clefting 1 1
                    ocular albinism with sensorineural deafness 2
                    omodysplasia 2 1
                    optic atrophy 1 3
                    optic atrophy 10 1
                    optic atrophy 12 1
                    optic atrophy 3 1
                    optic atrophy 4 0
                    optic atrophy 5 2
                    optic atrophy 8 0
                    orofacial cleft 1 2
                    orofacial cleft 13 0
                    orofacial cleft 6 1
                    orofaciodigital syndrome X 0
                    osteogenesis imperfecta type 1 7
                    osteogenesis imperfecta type 2 + 3
                    osteogenesis imperfecta type 3 10
                    osteogenesis imperfecta type 4 2
                    osteogenesis imperfecta type 5 2
                    osteoglophonic dysplasia 1
                    otospondylomegaepiphyseal dysplasia, autosomal dominant 2
                    ovarian dysgenesis 8 1
                    overhydrated hereditary stomatocytosis 1
                    pachyonychia congenita + 3
                    palmoplantar keratoderma-deafness syndrome 3
                    palmoplantar keratoderma-esophageal carcinoma syndrome 1
                    pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
                    paraganglioma + 40
                    paramyotonia congenita of Von Eulenburg 1
                    parastremmatic dwarfism 1
                    paroxysmal extreme pain disorder 1
                    paroxysmal nonkinesigenic dyskinesia 1 3
                    paroxysmal nonkinesigenic dyskinesia 2 0
                    permanent neonatal diabetes mellitus + 7
                    piebaldism + 6
                    pigmented paravenous chorioretinal atrophy 1
                    platelet-type bleeding disorder 12 0
                    platelet-type bleeding disorder 14 1
                    platelet-type bleeding disorder 15 2
                    platelet-type bleeding disorder 16 2
                    platelet-type bleeding disorder 17 1
                    platelet-type bleeding disorder 20 1
                    platelet-type bleeding disorder 3 1
                    platelet-type bleeding disorder 9 2
                    polycystic liver disease + 16
                    popliteal pterygium syndrome + 3
                    posterior amorphous corneal dystrophy 0
                    posterior polymorphous corneal dystrophy 1 3
                    posterior polymorphous corneal dystrophy 2 1
                    posterior polymorphous corneal dystrophy 4 1
                    primary ciliary dyskinesia 43 1
                    primary failure of tooth eruption 1
                    primary ovarian insufficiency 11 1
                    primary ovarian insufficiency 16 1
                    primary ovarian insufficiency 3 1
                    primary ovarian insufficiency 5 1
                    primary ovarian insufficiency 6 1
                    primary ovarian insufficiency 7 1
                    progressive familial heart block type IA 3
                    progressive familial heart block type IB 2
                    progressive familial heart block type II 0
                    progressive myoclonus epilepsy 7 24
                    progressive osseous heteroplasia 6
                    proprotein convertase 1/3 deficiency 1
                    protein C deficiency + 2
                    prothrombin thrombophilia 0
                    proximal symphalangism + 2
                    pseudoachondroplasia 1
                    punctate palmoplantar keratoderma type II 1
                    punctate palmoplantar keratoderma type III 0
                    renal coloboma syndrome 1
                    retinal arterial tortuosity 1
                    retinal vasculopathy with cerebral leukodystrophy 2
                    retinitis pigmentosa 1 1
                    retinitis pigmentosa 10 1
                    retinitis pigmentosa 11 1
                    retinitis pigmentosa 13 1
                    retinitis pigmentosa 17 1
                    retinitis pigmentosa 18 1
                    retinitis pigmentosa 27 1
                    retinitis pigmentosa 33 1
                    retinitis pigmentosa 35 1
                    retinitis pigmentosa 37 1
                    retinitis pigmentosa 4 1
                    retinitis pigmentosa 42 1
                    retinitis pigmentosa 60 1
                    retinitis pigmentosa 63 0
                    retinitis pigmentosa 7 2
                    retinitis pigmentosa 70 1
                    retinitis pigmentosa 83 1
                    retinitis pigmentosa 87 1
                    retinitis pigmentosa 89 1
                    retinitis pigmentosa 9 1
                    retinitis pigmentosa-deafness syndrome 11
                    ring dermoid of cornea 1
                    scalp-ear-nipple syndrome 1
                    scapuloperoneal spinal muscular atrophy 1
                    schizophrenia 1 0
                    schizophrenia 10 0
                    schizophrenia 11 0
                    schizophrenia 12 0
                    schizophrenia 15 1
                    schizophrenia 2 0
                    schizophrenia 3 0
                    schizophrenia 4 2
                    schizophrenia 5 1
                    schizophrenia 6 1
                    schizophrenia 7 0
                    schizophrenia 8 0
                    sclerosteosis 2 1
                    selective pituitary thyroid hormone resistance 1
                    sepiapterin reductase deficiency 1
                    severe congenital neutropenia 1 2
                    snowflake vitreoretinal degeneration 2
                    solitary median maxillary central incisor 2
                    spastic ataxia 1 2
                    spastic ataxia 7 0
                    speech-language disorder-1 5
                    spermatogenic failure 10 1
                    spermatogenic failure 11 1
                    spermatogenic failure 12 1
                    spermatogenic failure 2 0
                    spermatogenic failure 3 17
                    spermatogenic failure 32 1
                    spermatogenic failure 36 1
                    spermatogenic failure 4 5
                    spermatogenic failure 8 1
                    spinal muscular atrophy with lower extremity predominance + 4
                    split hand-foot malformation 1 3
                    split hand-foot malformation 4 1
                    spondyloepimetaphyseal dysplasia with joint laxity type 2 1
                    spondyloepimetaphyseal dysplasia, Missouri type 1
                    spondyloepimetaphyseal dysplasia, Strudwick type 3
                    spondyloepiphyseal dysplasia Kimberley type 1
                    spondyloepiphyseal dysplasia Maroteaux type 1
                    spondyloepiphyseal dysplasia Nishimura type 2
                    spondyloepiphyseal dysplasia Stanescu type 2
                    spondyloepiphyseal dysplasia congenita 4
                    spondylometaphyseal dysplasia Kozlowski type 1
                    spondylometaphyseal dysplasia corner fracture type 2
                    spondyloperipheral dysplasia 1
                    stiff skin syndrome 1
                    syndactyly type 3 1
                    syndactyly type 4 2
                    syndactyly type 5 2
                    syndactyly-telecanthus-anogenital and renal malformations syndrome 1
                    syndromic microphthalmia 3 2
                    syndromic microphthalmia 5 42
                    syndromic microphthalmia 6 1
                    tarsal-carpal coalition syndrome + 1
                    terminal osseous dysplasia 1
                    thrombophilia due to HRG deficiency 1
                    thrombophilia due to activated protein C resistance 4
                    thrombophilia due to thrombin defect 5
                    tibial muscular dystrophy 1
                    torsion dystonia 1 1
                    torsion dystonia 13 0
                    torsion dystonia 4 1
                    torsion dystonia 6 1
                    torsion dystonia 7 1
                    torsion dystonia with onset in infancy 0
                    transthyretin amyloidosis 13
                    trichodontoosseous syndrome 1
                    trichorhinophalangeal syndrome type I 59
                    trichorhinophalangeal syndrome type II 2
                    trichorhinophalangeal syndrome type III 1
                    tuberous sclerosis + 101
                    tubular aggregate myopathy 1 1
                    tubular aggregate myopathy 2 1
                    type 1 diabetes mellitus 2 3
                    ulnar-mammary syndrome 1
                    uveal coloboma-cleft lip and palate-intellectual disability 1
                    variant ABeta2M amyloidosis 0
                    vascular type Ehlers-Danlos syndrome + 1
                    vertebral anomalies and variable endocrine and T-cell dysfunction 1
                    warfarin sensitivity + 7
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