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ONTOLOGY REPORT - ANNOTATIONS


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
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  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                3p deletion syndrome 0
                46,XX sex reversal 2 1
                46,XX sex reversal 4 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 2
                Alzheimer's disease 1 + 6
                Alzheimer's disease 2 1
                Alzheimer's disease 3 + 3
                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 + 31
                Ayme-Gripp syndrome 1
                Bannayan-Riley-Ruvalcaba syndrome 2
                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
                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 1
                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 1
                Cornelia de Lange syndrome 1 5
                Cornelia de Lange syndrome 3 1
                Cornelia de Lange syndrome 4 1
                Costello syndrome 8
                Cowden syndrome + 8
                Crouzon syndrome-acanthosis nigricans syndrome 1
                Culler-Jones syndrome 1
                Currarino syndrome 56
                D-2-hydroxyglutaric aciduria 2 1
                Denys-Drash syndrome 2
                DiGeorge syndrome + 79
                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 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
                Diamond-blackfan anemia 3 2
                Doyne honeycomb retinal dystrophy 1
                Duane-radial ray syndrome 1
                EEC syndrome + 1
                Fanconi anemia complementation group R 1
                Feingold syndrome + 1
                Finnish type amyloidosis 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 3
                Holt-Oram syndrome 4
                ITM2B-related cerebral amyloid angiopathy 1 1
                ITM2B-related cerebral amyloid angiopathy 2 1
                IVIC syndrome 1
                Immunodeficiency 31C 1
                Jansen's metaphyseal chondrodysplasia 1
                Kleefstra syndrome 1 74
                Kleefstra syndrome 2 1
                Klippel-Feil syndrome 1 2
                Klippel-Feil syndrome 3 1
                Kniest dysplasia 1
                LADD syndrome 3
                Larsen syndrome 2
                Leber congenital amaurosis 11 1
                Leber congenital amaurosis 13 2
                Lenz-Majewski hyperostotic dwarfism 1
                Li-Fraumeni syndrome + 31
                Loeys-Dietz syndrome + 33
                Lynch syndrome + 33
                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 3
                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 3 6
                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 1
                Pelger-Huet anomaly + 2
                Perry syndrome 1
                Pfeiffer syndrome 2
                Pitt-Hopkins syndrome + 6
                Rapp-Hodgkin syndrome 1
                Romano-Ward Syndrome 13
                Rubinstein-Taybi syndrome + 22
                SADDAN 1
                SHORT syndrome 1
                STING-associated vasculopathy with onset in infancy 1
                Saethre-Chotzen syndrome 3
                Saul-Wilson syndrome 1
                Schopf-Schulz-Passarge syndrome 1
                Sorsby's fundus dystrophy 2
                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 + 12
                Weaver syndrome 3
                Weyers acrofacial dysostosis 2
                Williams-Beuren syndrome + 32
                Worth syndrome 1
                abdominal obesity-metabolic syndrome + 71
                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 + 36
                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 + 24
                anterior segment dysgenesis 1 2
                anterior segment dysgenesis 4 1
                aplasia of lacrimal and salivary glands 1
                apolipoprotein C-III deficiency + 1
                arrhythmogenic right ventricular dysplasia 1 4
                arrhythmogenic right ventricular dysplasia 10 2
                arrhythmogenic right ventricular dysplasia 11 1
                arrhythmogenic right ventricular dysplasia 12 1
                arrhythmogenic right ventricular dysplasia 13 2
                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 4
                autosomal dominant Robinow syndrome 2 3
                autosomal dominant Robinow syndrome 3 2
                autosomal dominant Wolfram syndrome 1
                autosomal dominant centronuclear myopathy + 6
                autosomal dominant cerebellar ataxia + 82
                autosomal dominant chondrodysplasia punctata + 0
                autosomal dominant chronic granulomatous disease 0
                autosomal dominant cutis laxa + 3
                autosomal dominant distal hereditary motor neuronopathy + 33
                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 2
                autosomal dominant microcephaly + 1
                autosomal dominant nocturnal frontal lobe epilepsy + 28
                autosomal dominant non-syndromic intellectual disability + 168
                autosomal dominant nonsyndromic deafness + 54
                autosomal dominant osteopetrosis 1 1
                autosomal dominant osteopetrosis 2 1
                autosomal dominant polycystic kidney disease + 38
                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 0
                autosomal dominant pseudohypoaldosteronism type 1 4
                autosomal dominant sensory ataxia 1 1
                autosomal dominant sideroblastic anemia 4 1
                autosomal dominant type IV Ehlers-Danlos syndrome + 1
                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 + 5
                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 47 1
                ceft palate, cardiac defects, and intellectual disabillity 1
                cerebrocostomandibular syndrome 1
                cherubism + 9
                childhood onset GLUT1 deficiency syndrome 2 1
                chromosome 13q14 deletion syndrome 71
                chromosome 15q11.2 deletion syndrome 13
                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 0
                chromosome 18q deletion syndrome 56
                chromosome 19p13.13 deletion syndrome 0
                chromosome 19q13.11 deletion syndrome 0
                chromosome 5q12 deletion syndrome 0
                cleidocranial dysplasia + 7
                complex cortical dysplasia with other brain malformations + 527
                congenital adrenal insufficiency 1
                congenital central hypoventilation syndrome 8
                congenital contractural arachnodactyly 1
                congenital diarrhea 6 2
                congenital dyserythropoietic anemia type IV 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 vertical talus 1
                cortisone reductase deficiency 2 1
                craniofacial-deafness-hand syndrome 1
                craniometaphyseal dysplasia + 6
                dehydrated hereditary stomatocytosis 1 1
                dehydrated hereditary stomatocytosis 2 1
                dermatopathia pigmentosa reticularis 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 5
                dilated cardiomyopathy 1AA 3
                dilated cardiomyopathy 1B 2
                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 5
                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 + 2
                dystonia 12 2
                dystonia 21 0
                dystonia 23 1
                dystonia 24 1
                dystonia 25 1
                dystonia 5 2
                dystonia 9 1
                dystransthyretinemic hyperthyroxinemia 1
                ectodermal dysplasia 10A 2
                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 3
                epidermolysis bullosa simplex with mottled pigmentation 1
                epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
                episodic kinesigenic dyskinesia 1 6
                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
                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 adenomatous polyposis 1 3
                familial adult myoclonic epilepsy 1 1
                familial adult myoclonic epilepsy 2 1
                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 1
                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 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 1
                familial temporal lobe epilepsy 8 1
                fibrochondrogenesis 2 1
                fibrodysplasia ossificans progressiva 2
                focal nonepidermolytic palmoplantar keratoderma 1 1
                focal nonepidermolytic palmoplantar keratoderma 2 2
                focal or diffuse nonepidermolytic palmoplantar keratoderma 1
                focal segmental glomerulosclerosis 1 3
                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
                gnathodiaphyseal dysplasia 1
                granular corneal dystrophy + 1
                hand-foot-genital syndrome 1
                hawkinsinuria 1
                hereditary breast ovarian cancer syndrome 44
                hereditary hemorrhagic telangiectasia + 6
                hereditary lymphedema IA 1
                hereditary lymphedema IC 1
                hereditary lymphedema ID 1
                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 1
                hereditary sensory neuropathy type 1B 0
                hereditary sensory neuropathy type 1D 1
                hereditary sensory neuropathy type 1E 1
                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 1
                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 5
                holoprosencephaly 7 1
                holoprosencephaly 9 1
                hyper IgE recurrent infection syndrome 1 2
                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
                hypomyelinating leukodystrophy 6 1
                hypophosphatemic nephrolithiasis/osteoporosis 1 2
                hypophosphatemic nephrolithiasis/osteoporosis 2 1
                hypoplastic or aplastic tibia with polydactyly 2
                hypotrichosis 1 4
                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
                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
                infantile or early childhood epileptic encephalopathy 1 + 20
                infantile or early childhood epileptic encephalopathy 2 + 8
                inflammatory bowel disease 21 0
                inflammatory bowel disease 3 0
                intellectual disability-severe speech delay-mild dysmorphism syndrome 1
                intrahepatic cholestasis of pregnancy 1 1
                intrahepatic cholestasis of pregnancy 3 2
                iridogoniodysgenesis syndrome + 2
                ischiocoxopodopatellar syndrome 1
                isolated elevated serum creatine phosphokinase levels 13
                isolated microphthalmia 7 1
                juvenile glaucoma 2
                juvenile polyposis syndrome + 14
                juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
                lateral meningocele syndrome 1
                lattice corneal dystrophy + 4
                long QT syndrome 1 13
                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 + 8
                mandibulofacial dysostosis, Guion-Almeida type 1
                maturity-onset diabetes of the young + 23
                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
                metachondromatosis 2
                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 1
                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 1
                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 1
                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
                neurofibromatosis + 12
                neurofibromatosis-Noonan syndrome 2
                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
                optic atrophy 1 3
                optic atrophy 10 1
                optic atrophy 3 1
                optic atrophy 4 0
                optic atrophy 5 2
                optic atrophy 8 0
                orofacial cleft 1 3
                orofacial cleft 13 0
                orofacial cleft 6 1
                osteogenesis imperfecta type 1 8
                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 + 2
                palmoplantar keratoderma-deafness syndrome 2
                palmoplantar keratoderma-esophageal carcinoma syndrome 1
                pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
                paraganglioma + 38
                paramyotonia congenita of Von Eulenburg 1
                parastremmatic dwarfism 1
                paroxysmal extreme pain disorder 1
                paroxysmal nonkinesigenic dyskinesia 1 2
                paroxysmal nonkinesigenic dyskinesia 2 0
                permanent neonatal diabetes mellitus + 7
                piebaldism + 6
                pigmented paravenous chorioretinal atrophy 1
                polycystic liver disease + 16
                popliteal pterygium syndrome + 2
                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
                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 1
                progressive osseous heteroplasia 6
                proprotein convertase 1/3 deficiency 1
                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 9 1
                retinitis pigmentosa-deafness syndrome 12
                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
                speech-language disorder-1 5
                spermatogenic failure 10 1
                spermatogenic failure 11 1
                spermatogenic failure 12 1
                spermatogenic failure 2 0
                spermatogenic failure 3 12
                spermatogenic failure 4 3
                spermatogenic failure 8 1
                spinal muscular atrophy with lower extremity predominance + 3
                split hand-foot malformation 1 3
                split hand-foot malformation 4 1
                spondyloepimetaphyseal dysplasia, Missouri type 1
                spondyloepimetaphyseal dysplasia, Strudwick type 3
                spondyloepiphyseal dysplasia Maroteaux type 1
                spondyloepiphyseal dysplasia congenita 4
                spondylometaphyseal dysplasia Kozlowski type 1
                stiff skin syndrome 1
                syndactyly type 3 1
                syndactyly type 4 2
                syndactyly type 5 2
                syndromic microphthalmia 3 2
                syndromic microphthalmia 5 5
                syndromic microphthalmia 6 1
                tarsal-carpal coalition syndrome 1
                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 12
                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
                vertebral anomalies and variable endocrine and T-cell dysfunction 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.