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


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Brunner syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by OMIM:300615
ClinVar Annotator: match by term: BRUNNER SYNDROME
ClinVar Annotator: match by term: Monoamine oxidase A deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8211186, PMID:11700166, PMID:24169519, PMID:25741868, PMID:25807999, PMID:28492532 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Brunner syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    Brunner syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.