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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 term: Neonatal ichthyosis-sclerosing cholangitis syndrome
ClinVar Annotator: match by null
DNA:deletion, nonsense mutation:exon:200_201delTT(human)
OMIM
ClinVar
RGD
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:15521008 RGD:11341732 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
ClinVar PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Nisch syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        hepatobiliary disease 2577
          biliary tract disease 465
            bile duct disease 431
              cholangitis 32
                sclerosing cholangitis 19
                  Nisch syndrome 2
paths to the root