Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Neonatal Inflammatory Skin and Bowel Disease
go back to main search page
Accession:DOID:9008088 term browser browse the term
Synonyms:exact_synonym: NISBD
 primary_id: RDO:9000477
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Neonatal Inflammatory Skin and Bowel Disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal 1 ClinVar
OMIM
PMID:22010916, PMID:28492532 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Iah1 isoamyl acetate hydrolyzing esterase 1 ISO ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal 1 ClinVar PMID:28492532 NCBI chr 6:43,393,113...43,400,330
Ensembl chr 6:43,393,113...43,400,328
JBrowse link
Neonatal Inflammatory Skin and Bowel Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 2 ClinVar
OMIM
PMID:24691054 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    sensory system disease 5163
      skin disease 2751
        dermatitis 370
          Neonatal Inflammatory Skin and Bowel Disease 3
            Neonatal Inflammatory Skin and Bowel Disease 1 2
            Neonatal Inflammatory Skin and Bowel Disease 2 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      gastrointestinal system disease 4672
        Gastrointestinal Diseases 2598
          intestinal disease 1495
            inflammatory bowel disease 337
              Neonatal Inflammatory Skin and Bowel Disease 3
                Neonatal Inflammatory Skin and Bowel Disease 1 2
                Neonatal Inflammatory Skin and Bowel Disease 2 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.