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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 Hystrix
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Accession:DOID:9000971 term browser browse the term

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show annotations for term's descendants           Sort by:
Ichthyosis Hystrix Gravior term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT10 keratin 10 ISO ClinVar Annotator: match by term: Ichthyosis hystrix gravior OMIM
ClinVar		 PMID:17355236 PMID:27212473 NCBI chr16:65,361,893...65,367,634
Ensembl chr16:65,362,903...65,367,941 		JBrowse link
G LOC103243487 transmembrane protein 99 (putative) ISO ClinVar Annotator: match by term: Ichthyosis hystrix gravior ClinVar PMID:17355236 PMID:27212473 NCBI chr16:65,350,270...65,351,125 JBrowse link
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type OMIM
ClinVar		 PMID:16417221 PMID:21844476 PMID:22834809 NCBI chr11:48,810,671...48,817,436
Ensembl chr11:48,810,677...48,816,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15628
    sensory system disease 7007
      skin disease 4084
        keratosis 183
          ichthyosis 93
            Ichthyosis Hystrix 3
              Ichthyosis Hystrix Gravior 2
              Ichthyosis Hystrix, Curth Macklin Type 1
Path 2
Term Annotations click to browse term
  disease 15628
    Pathological Conditions, Signs and Symptoms 12193
      Signs and Symptoms 10273
        Neurologic Manifestations 9954
          sensory system disease 7007
            skin disease 4084
              Skin Abnormalities 1316
                ichthyosis 93
                  Ichthyosis Hystrix 3
                    Ichthyosis Hystrix Gravior 2
                    Ichthyosis Hystrix, Curth Macklin Type 1
paths to the root