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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    disease of anatomical entity 18195
      immune system disease 4772
        Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 21147
    disease of anatomical entity 18195
      Skin and Connective Tissue Diseases 7379
        connective tissue disease 5731
          bone disease 4241
            bone development disease 2275
              osteochondrodysplasia 849
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
paths to the root