Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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;   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
For additional species annotation, visit the Alliance of Genome Resources.



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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: Monoamine oxidase A deficiency
OMIM
CTD
ClinVar
PMID:8211186 PMID:9536098 PMID:11700166 PMID:17576681 PMID:24169519 More... NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Brunner syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    Brunner syndrome 1
paths to the root