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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:Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
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Accession:DOID:9007082 term browser browse the term
Synonyms:exact_synonym: KLICK;   KLICK Syndrome
 xref: MESH:C566600;   MIM:601952;   MONDO:0011169


show annotations for term's descendants           Sort by:
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomp proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		 OMIM
CTD
ClinVar		 PMID:20226437 PMID:22235297 PMID:25741868 PMID:27503413 PMID:28492532 More... NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      skin disease 4320
        Skin Abnormalities 1321
          Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              Genetic Skin Diseases 1889
                Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
paths to the root