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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:autosomal recessive intellectual developmental disorder 7
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Accession:DOID:0081183 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. (DO)
Synonyms:exact_synonym: MRT22;   MRT7;   intellectual developmental disorder 22;   mental retardation, autosomal recessive 22;   mental retardation, autosomal recessive 7
 primary_id: MESH:C567016
 alt_id: DOID:9008725;   OMIM:611093


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autosomal recessive intellectual developmental disorder 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tusc3 tumor suppressor candidate 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:18452889 PMID:18455129 PMID:21681106 More... NCBI chr16:53,196,195...53,345,241
Ensembl chr16:53,196,195...53,344,781 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Neurodevelopmental Disorders 6845
        intellectual disability 4301
          autosomal recessive intellectual developmental disorder 293
            autosomal recessive intellectual developmental disorder 7 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4301
                    autosomal recessive intellectual developmental disorder 293
                      autosomal recessive intellectual developmental disorder 7 1
paths to the root