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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:Ichthyosis Hystrix Gravior
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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


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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 chr 9:21,863,715...21,868,587
Ensembl chr 9:21,863,767...21,868,587 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    disease of cellular proliferation 7491
      benign neoplasm 2151
        cell type benign neoplasm 1891
          papilloma 66
            Ichthyosis Hystrix Gravior 1
Path 2
Term Annotations click to browse term
  disease 15760
    Pathological Conditions, Signs and Symptoms 12320
      Signs and Symptoms 10319
        Neurologic Manifestations 10001
          sensory system disease 7032
            skin disease 4095
              Skin Abnormalities 1308
                ichthyosis 92
                  Ichthyosis Hystrix 2
                    Ichthyosis Hystrix Gravior 1
paths to the root