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   new 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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Brunner syndrome
go back to main search page
Accession:DOID:0060693 term browser browse the term
Definition:An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: BRNRS;   MAOA-RELATED CONDITION;   monoamine oxidase A deficiency
 narrow_synonym: ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO
 primary_id: MESH:C563156
 alt_id: OMIM:300615;   RDO:0012534
 xref: ICD10CM:E70.8;   ORDO:3057


show annotations for term's descendants           Sort by:
Brunner syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maoa monoamine oxidase A ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition
OMIM:300615		 OMIM
CTD
ClinVar
MouseDO		 PMID:8211186 PMID:9536098 PMID:11700166 PMID:17296899 PMID:17576681 More... NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Brunner syndrome ClinVar PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 More... NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Brunner syndrome 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    Brunner syndrome 3
paths to the root