Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



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 ClinVar Annotator: match by term: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma OMIM
ClinVar
PMID:20226437 PMID:22235297 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 18162
    sensory system disease 6412
      skin disease 3782
        Skin Abnormalities 1076
          Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        sensory system disease 6412
          skin disease 3782
            Genetic Skin Diseases 1565
              Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
paths to the root