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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities
ClinVar
OMIM
PMID:25741868 PMID:28132690 PMID:28148688 NCBI chr15:48,420,419...48,465,171
Ensembl chr15:48,422,492...48,445,592
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      immune system disease 3257
        Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      Skin and Connective Tissue Diseases 5816
        connective tissue disease 4426
          bone disease 3109
            bone development disease 1419
              osteochondrodysplasia 477
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
paths to the root