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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:Mental Retardation, Fra12a Type
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Accession:DOID:9005790 term browser browse the term
Synonyms:primary_id: MESH:C566980;   RDO:0015173
 alt_id: OMIM:136630
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Mental Retardation, Fra12a Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dip2b disco-interacting protein 2 homolog B ISO ClinVar Annotator: match by term: Mental retardation, fra12a type OMIM
ClinVar
PMID:25741868 NCBI chr 7:141,702,034...141,878,945
Ensembl chr 7:141,702,038...141,879,951
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Mental retardation, fra12a type ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          Mental Retardation, Fra12a Type 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Mental Retardation, Fra12a Type 2
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.