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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 70
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Accession:DOID:0081231 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. (DO)
Synonyms:exact_synonym: MRT70;   Mental Retardation, Autosomal Recessive 70
 primary_id: OMIM:618402
 alt_id: DOID:9009079


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autosomal recessive intellectual developmental disorder 70 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rsrc1 arginine and serine rich coiled-coil 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 70 OMIM
ClinVar		 PMID:25741868 PMID:28640246 PMID:29522154 PMID:32227164 NCBI chr 2:151,226,821...151,632,771
Ensembl chr 2:151,231,156...151,632,765 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Neurodevelopmental Disorders 6845
        intellectual disability 4298
          autosomal recessive intellectual developmental disorder 293
            autosomal recessive intellectual developmental disorder 70 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            disease of mental health 8318
              developmental disorder of mental health 5551
                specific developmental disorder 4516
                  intellectual disability 4298
                    autosomal recessive intellectual developmental disorder 293
                      autosomal recessive intellectual developmental disorder 70 1
paths to the root