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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:ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
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Accession:DOID:9007711 term browser browse the term
Synonyms:exact_synonym: CLDN1-RELATED CONDITION;   ILVASC;   Ichthyosis-Sclerosing Cholangitis Syndrome;   Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome;   Nisch syndrome
 primary_id: MESH:C564365
 alt_id: OMIM:607626


show annotations for term's descendants           Sort by:
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO DNA:deletion, nonsense mutation:exon:200_201delTT(human)
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 More... RGD:11341732 NCBI chr16:26,175,395...26,190,589
Ensembl chr16:26,175,392...26,190,591 		JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome ClinVar PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 NCBI chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    syndrome 10342
      ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 2
Path 2
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      nervous system disease 13506
        Neurologic Manifestations 9793
          sensory system disease 6754
            skin disease 3830
              hair disease 320
                hypotrichosis 141
                  alopecia 91
                    ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 2
paths to the root