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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, Curth Macklin Type
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Accession:DOID:9002744 term browser browse the term
Definition:Four genetic disorders of keratinization are known to have a structural defect of tonofibrils. In the Curth-Macklin form of ichthyosis hystrix (IHCM), concentric unbroken shells of abnormal tonofilaments form around the nucleus. IHCM is caused by heterozygous mutation in the KRT1 gene (139350) on chromosome 12q13. (OMIM)
Synonyms:exact_synonym: IHCM
 primary_id: MESH:C536088
 alt_id: OMIM:146590


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Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type		 OMIM
CTD
ClinVar		 PMID:16417221 PMID:21844476 PMID:22834809 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      skin disease 4047
        Eczematous Skin Diseases 267
          seborrheic dermatitis 3
            Ichthyosis Hystrix, Curth Macklin Type 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Skin Abnormalities 1298
                ichthyosis 91
                  Ichthyosis Hystrix 2
                    Ichthyosis Hystrix, Curth Macklin Type 1
paths to the root