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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
 primary_id: MESH:C566600
 alt_id: OMIM:601952


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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 ClinVar Annotator: match by term: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20226437 PMID:22235297 PMID:25741868 PMID:27503413 PMID:28492532 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 21112
    sensory system disease 6867
      skin disease 3899
        Skin Abnormalities 1290
          Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      nervous system disease 13991
        Neurologic Manifestations 9971
          sensory system disease 6867
            skin disease 3899
              Genetic Skin Diseases 1836
                Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
paths to the root