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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:Specific Language Impairment 5
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Accession:DOID:9004636 term browser browse the term
Synonyms:exact_synonym: SLI5
 primary_id: OMIM:615432


show annotations for term's descendants           Sort by:
Specific Language Impairment 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tm4sf20 transmembrane 4 L six family member 20 ISO ClinVar Annotator: match by term: Specific language impairment 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19557438 PMID:20848651 PMID:23806086 PMID:23810381 PMID:24088043 More... NCBI chr 9:84,038,715...84,052,615
Ensembl chr 9:84,038,715...84,052,615 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Language Development Disorders 64
        specific language impairment 2
          Specific Language Impairment 5 1
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
                  communication disorder 402
                    language disorder 156
                      Language Development Disorders 64
                        specific language impairment 2
                          Specific Language Impairment 5 1
paths to the root