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: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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22010916 PMID:25741868 PMID:25804906 More... NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Iah1 isoamyl acetate hydrolyzing esterase 1 ISO ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1 ClinVar PMID:9536098 PMID:17576681 PMID:22010916 PMID:25741868 PMID:25804906 More... NCBI chr 6:40,865,530...40,872,747
Ensembl chr 6:40,865,502...40,872,978
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 OMIM
ClinVar
PMID:24033266 PMID:24691054 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      skin disease 3754
        dermatitis 462
          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 18032
    disease of anatomical entity 17412
      gastrointestinal system disease 6496
        Gastrointestinal Diseases 4626
          intestinal disease 2872
            inflammatory bowel disease 469
              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