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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;   RDO:0014913
 alt_id: OMIM:601952
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:601952 OMIM
ClinVar
PMID:20226437 NCBI chr12:8,746,948...8,759,433
Ensembl chr12:8,746,855...8,759,599
Ensembl chr12:8,746,855...8,759,599
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      skin disease 2747
        Skin Abnormalities 633
          Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          skin disease 2747
            Genetic Skin Diseases 915
              Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
paths to the root