Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



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 OMIM
ClinVar
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 18154
    disease of anatomical entity 17529
      immune system disease 4499
        Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Skin and Connective Tissue Diseases 6745
        connective tissue disease 5121
          bone disease 3801
            bone development disease 1876
              osteochondrodysplasia 615
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
paths to the root