Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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

Synonyms
Exact Synonyms: autosomal dominant disease or disorder ;   autosomal dominant hereditary disorder ;   autosomal dominant inherited disorder
Alternate IDs: MONDO:0000426
Xrefs: DOID:0050736 ;   ICD9:758.5 ;   MEDGEN:539206 ;   SCTID:11164009 ;   UMLS:C0265385
Definition Sources: MONDO:patterns/autosomal_dominant

paths to the root