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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
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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


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		 OMIM
CTD
ClinVar		 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 21086
    syndrome 10782
      Brunner syndrome 3
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        central nervous system disease 12287
          brain disease 11534
            disease of mental health 8198
              developmental disorder of mental health 5448
                specific developmental disorder 4431
                  intellectual disability 4238
                    Brunner syndrome 3
paths to the root