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Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency - Ontology Report - Rat Genome Database

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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:Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency
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Accession:DOID:9001875 term browser browse the term
Synonyms:exact_synonym: SLSD with SCID;   so-called achondroplasia and severe combined immunodeficiency
 primary_id: MESH:C565984
 alt_id: MIM:200900

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Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency ClinVar PMID:25741868 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      endocrine system disease 7042
        Dwarfism 875
          achondroplasia 57
            Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                achondroplasia 57
                  Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 1
paths to the root