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

ONTOLOGY REPORT - ANNOTATIONS


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       view all columns           Sort by:
 
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Extl3 exostosin-like glycosyltransferase 3 JBrowse link 15 48,420,419 48,465,171 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15849
    disease of anatomical entity 15241
      immune system disease 2791
        Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 15849
    Developmental Diseases 9271
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8086
        genetic disease 7599
          monogenic disease 5250
            X-linked monogenic disease 917
              combined T cell and B cell immunodeficiency 70
                severe combined immunodeficiency 51
                  Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.