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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:Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type
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Accession:DOID:9005790 term browser browse the term
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, FRA12A TYPE;   mental retardation, FRA12A type
 primary_id: MESH:C566980
 alt_id: OMIM:136630
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Intellectual Developmental Disorder, Autosomal Dominant, 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: Intellectual disability, FRA12A type OMIM
ClinVar
PMID:17236128 PMID:25741868 NCBI chr 7:131,174,575...131,350,417
Ensembl chr 7:131,174,567...131,349,092
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Intellectual disability, FRA12A type ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Neurodevelopmental Disorders 6103
        intellectual disability 3878
          Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type 2
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
                    Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type 2
paths to the root