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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:Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
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Accession:DOID:9001094 term browser browse the term
Synonyms:exact_synonym: ISDNA
 primary_id: OMIM:617425


show annotations for term's descendants           Sort by:
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Extl3 exostosin-like glycosyltransferase 3 ISO ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28132690 PMID:28148688 PMID:28492532 NCBI chr15:39,294,033...39,384,086
Ensembl chr15:39,293,605...39,338,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      immune system disease 4780
        Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Skin and Connective Tissue Diseases 7437
        connective tissue disease 5762
          bone disease 4273
            bone development disease 2304
              osteochondrodysplasia 860
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
paths to the root