Term Name: autosomal dominant disease
Synonyms:
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.
Ontology: Human Disease [DOID:0050736]   ( DOID:0050736 )

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