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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:Nisch syndrome
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Accession:DOID:9007711 term browser browse the term
Synonyms:exact_synonym: ILVASC;   Ichthyosis-Sclerosing Cholangitis Syndrome;   Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome;   ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
 primary_id: MESH:C564365
 alt_id: OMIM:607626;   RDO:0013356
For additional species annotation, visit the Alliance of Genome Resources.


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Nisch syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO ClinVar Annotator: match by null
DNA:deletion, nonsense mutation:exon:200_201delTT(human)
OMIM
ClinVar
PMID:12164927, PMID:15521008, PMID:16619213, PMID:15521008 RGD:11341732 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ClinVar PMID:12164927, PMID:15521008, PMID:16619213 NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Nisch syndrome 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        hepatobiliary disease 2484
          biliary tract disease 437
            bile duct disease 407
              cholangitis 32
                sclerosing cholangitis 19
                  Nisch syndrome 2
paths to the root

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