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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 10/20
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Accession:DOID:0081185 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. (DO)
Synonyms:exact_synonym: Intellectual Developmental Disorder, Autosomal Recessive 10;   MRT10;   MRT20;   intellectual developmental disorder, autosomal recessive 20;   mental retardation, autosomal recessive 10;   mental retardation, autosomal recessive 20
 primary_id: MESH:C567013
 alt_id: DOID:9001021;   OMIM:611096


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          autosomal recessive intellectual developmental disorder 289
            autosomal recessive intellectual developmental disorder 10/20 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    autosomal recessive intellectual developmental disorder 289
                      autosomal recessive intellectual developmental disorder 10/20 0
paths to the root