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:Ichthyosis Hystrix Gravior
go back to main search page
Accession:DOID:9000839 term browser browse the term
Synonyms:exact_synonym: IHL;   Lambert type ichthyosis;   Lambert type ichthyosis hystrix;   Lambert type of ichthyosis hystrix;   Porcupine man
 primary_id: MESH:C536087
 alt_id: MIM:146600



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 chr10:84,338,695...84,343,279 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of cellular proliferation 7890
      benign neoplasm 2221
        cell type benign neoplasm 1960
          papilloma 69
            Ichthyosis Hystrix Gravior 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          sensory system disease 7376
            skin disease 4320
              Skin Abnormalities 1321
                ichthyosis 95
                  Ichthyosis Hystrix 2
                    Ichthyosis Hystrix Gravior 1
paths to the root