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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:autosomal dominant disease
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Accession:EFO:MONDO:0000426 term browser browse the term
Definition:Autosomal dominant form of disease.
Synonyms:exact_synonym: autosomal dominant disease or disorder;   autosomal dominant hereditary disorder;   autosomal dominant inherited disorder
 alt_id: MONDO:0000426
 xref: DOID:0050736;   ICD9:758.5;   MEDGEN:539206;   SCTID:11164009;   UMLS:C0265385


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            autosomal genetic disease 0
              autosomal dominant disease 0
                ADULT syndrome 0
                Acroosteolysis dominant type 0
                Autosomal dominant polycystic kidney disease + 0
                Bannayan-Riley-Ruvalcaba syndrome 0
                Beare-Stevenson cutis gyrata syndrome 0
                Birk-Barel syndrome 0
                Birt-Hogg-Dube syndrome + 0
                Brooke-Spiegler syndrome + 0
                Carney complex + 0
                Coffin-Siris syndrome 1 0
                Costello syndrome 0
                Cowden disease + 0
                Crouzon syndrome-acanthosis nigricans syndrome 0
                Denys-Drash syndrome 0
                Diets-Jongmans syndrome 0
                Duane-radial ray syndrome + 0
                EEC syndrome + 0
                Ehlers-Danlos syndrome, classic type + 0
                Feingold syndrome + 0
                Flynn-Aird syndrome 0
                Frasier syndrome 0
                GIST-plus syndrome 0
                GUCY2D-related dominant retinopathy + 0
                Holt-Oram syndrome + 0
                Houge-Janssens syndrome 2 0
                IMPG1-related dominant retinopathy + 0
                KINSSHIP syndrome 0
                LADD syndrome + 0
                Larsen syndrome 0
                Li-Fraumeni syndrome 0
                Loeys-Dietz syndrome + 0
                Lynch syndrome + 0
                Marfan syndrome + 0
                Menke-Hennekam syndrome 1 0
                Menke-Hennekam syndrome 2 0
                Muckle-Wells syndrome 0
                Muir-Torre syndrome 0
                NOG-related symphalangism spectrum disorder + 0
                Noonan syndrome with multiple lentigines 0
                PCWH syndrome 0
                PROM1-related dominant retinopathy + 0
                PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 0
                Pelger-Huet anomaly 0
                Rapp-Hodgkin syndrome 0
                Scapuloperoneal spinal muscular atrophy 0
                Snijders Blok-Campeau syndrome 0
                Snijders Blok-Fisher syndrome 0
                Timothy syndrome + 0
                Townes-Brocks syndrome 0
                Treacher-Collins syndrome + 0
                Waardenburg syndrome + 0
                Weiss-Kruszka syndrome 0
                arthrogryposis, distal, type 2B3 0
                autoinflammation with episodic fever and lymphadenopathy 0
                autosomal dominant Alport syndrome 0
                autosomal dominant Ehlers-Danlos syndrome, vascular type 0
                autosomal dominant Emery-Dreifuss muscular dystrophy + 0
                autosomal dominant Kenny-Caffey syndrome 0
                autosomal dominant Robinow syndrome 0
                autosomal dominant brachyolmia 0
                autosomal dominant cataract 0
                autosomal dominant centronuclear myopathy 0
                autosomal dominant cerebellar ataxia + 0
                autosomal dominant chondrodysplasia punctata + 0
                autosomal dominant coarctation of aorta 0
                autosomal dominant complex spastic paraplegia + 0
                autosomal dominant cutis laxa + 0
                autosomal dominant distal myopathy + 0
                autosomal dominant distal renal tubular acidosis 0
                autosomal dominant epidermolytic ichthyosis + 0
                autosomal dominant hereditary sensory and autonomic neuropathy 0
                autosomal dominant hypocalcemia + 0
                autosomal dominant hypohidrotic ectodermal dysplasia + 0
                autosomal dominant hypophosphatemic rickets 0
                autosomal dominant ichthyosis vulgaris + 0
                autosomal dominant intermediate Charcot-Marie-Tooth disease + 0
                autosomal dominant keratitis 0
                autosomal dominant keratitis-ichthyosis-hearing loss syndrome 0
                autosomal dominant medullary cystic kidney disease with or without hyperuricemia + 0
                autosomal dominant myoglobinuria 0
                autosomal dominant nonsyndromic hearing loss + 0
                autosomal dominant oculocutaneous albinism 0
                autosomal dominant omodysplasia 0
                autosomal dominant optic atrophy + 0
                autosomal dominant osteopetrosis + 0
                autosomal dominant polycystic liver disease + 0
                autosomal dominant popliteal pterygium syndrome 0
                autosomal dominant primary microcephaly + 0
                autosomal dominant progressive external ophthalmoplegia + 0
                autosomal dominant proximal renal tubular acidosis 0
                autosomal dominant proximal spinal muscular atrophy 0
                autosomal dominant pure spastic paraplegia 0
                autosomal dominant rhegmatogenous retinal detachment 0
                autosomal dominant secondary polycythemia 0
                autosomal dominant severe congenital neutropenia + 0
                autosomal dominant sideroblastic anemia 0
                autosomal dominant spastic ataxia + 0
                autosomal dominant spondylocostal dysostosis 0
                autosomal dominant titinopathy + 0
                autosomal dominant vibratory urticaria 0
                blepharocheilodontic syndrome + 0
                blepharophimosis, ptosis, and epicanthus inversus syndrome + 0
                branchio-oto-renal syndrome 0
                branchiooculofacial syndrome 0
                breast-ovarian cancer, familial, susceptibility to, 1 0
                cataract-aberrant oral frenula-growth delay syndrome 0
                charcot-marie-tooth disease, axonal, type 2DD 0
                cherubism 0
                cochleosaccular degeneration-cataract syndrome 0
                contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0
                diffuse nonepidermolytic palmoplantar keratoderma 0
                distal arthrogryposis type 2B1 0
                dyskeratosis congenita, autosomal dominant 2 0
                dyskeratosis congenita, autosomal dominant 3 0
                early-onset autosomal dominant Alzheimer disease + 0
                epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 0
                epilepsy, early-onset, with or without developmental delay 0
                generalized juvenile polyposis/juvenile polyposis coli 0
                glass-chapman-hockley syndrome 0
                hand-foot-genital syndrome 0
                heart-hand syndrome, Slovenian type 0
                hereditary breast ovarian cancer syndrome 0
                hereditary hemorrhagic telangiectasia + 0
                hyper-IgE recurrent infection syndrome 1, autosomal dominant 0
                hyperkeratosis-hyperpigmentation syndrome 0
                hypophosphatasia + 0
                hypopigmentation-punctate palmoplantar keratoderma syndrome 0
                inclusion body myopathy and brain white matter abnormalities 0
                intellectual developmental disorder 60 with seizures 0
                intellectual developmental disorder with impaired language and dysmorphic facies 0
                intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 0
                intellectual developmental disorder with speech delay, autism and dysmorphic facies 0
                intellectual disability, autosomal dominant + 0
                intellectual disability, autosomal dominant 14 0
                intellectual disability, autosomal dominant 16 0
                intellectual disability, autosomal dominant 29 0
                intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0
                isolated congenital adermatoglyphia 0
                juvenile cataract-microcornea-renal glucosuria syndrome 0
                macrocephaly-autism syndrome 0
                mandibulofacial dysostosis-microcephaly syndrome 0
                megabladder, congenital 0
                melanoma, cutaneous malignant, susceptibility to, 2 0
                microcephalic osteodysplastic dysplasia, Saul-Wilson type 0
                monilethrix 0
                multiple cutaneous and mucosal venous malformations 0
                multiple endocrine neoplasia type 1 0
                multiple endocrine neoplasia type 2A 0
                multiple endocrine neoplasia type 2B 0
                multiple endocrine neoplasia type 4 0
                muscular dystrophy, limb-girdle, autosomal dominant + 0
                nail-patella syndrome 0
                neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0
                neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0
                neurodevelopmental disorder with macrocephaly and with or without seizures 0
                neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures 0
                neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0
                neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0
                neurofibromatosis + 0
                neurohypophyseal diabetes insipidus 0
                neuronopathy, distal hereditary motor, autosomal dominant + 0
                neurooculocardiogenitourinary syndrome 0
                nevoid basal cell carcinoma syndrome 0
                palmoplantar keratoderma-spastic paralysis syndrome 0
                piebaldism 0
                postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0
                proximal symphalangism + 0
                pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 0
                renal coloboma syndrome 0
                retinoschisis, autosomal dominant 0
                severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0
                sodium channelopathy-related small fiber neuropathy 0
                spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant 0
                spondyloepimetaphyseal dysplasia with multiple dislocations 0
                spondyloepiphyseal dysplasia tarda, autosomal dominant 0
                thanatophoric dysplasia type 1 0
                thrombophilia due to protein S deficiency, autosomal dominant 0
                trichorhinophalangeal syndrome type I or III 0
                trichorhinophalangeal syndrome type II 0
                tuberous sclerosis 0
                ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0
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