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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:Neonatal Inflammatory Skin and Bowel Disease 1
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Accession:DOID:9001556 term browser browse the term
Synonyms:exact_synonym: NISBD1
 primary_id: OMIM:614328
 alt_id: RDO:9001617
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        Infant, Newborn, Diseases 1095
          Neonatal Inflammatory Skin and Bowel Disease 3
            Neonatal Inflammatory Skin and Bowel Disease 1 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      cardiovascular system disease 4822
        heart disease 2954
          cardiomyopathy 1155
            extrinsic cardiomyopathy 117
              myocarditis 112
                Neonatal Inflammatory Skin and Bowel Disease 1 2
paths to the root