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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
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Accession:DOID:9008088 term browser browse the term
Synonyms:exact_synonym: NISBD


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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22010916 PMID:25640679 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:16199547 PMID:17576681 PMID:22010916 PMID:25741868 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 2		 CTD
ClinVar
OMIM		 PMID:11423618 PMID:15118073 PMID:15118125 PMID:15272417 PMID:15329413 More... NCBI chr14:91,176,979...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 18969
    sensory system disease 6961
      skin disease 3968
        dermatitis 483
          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 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              dermatitis 483
                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