ONTOLOGY REPORT - ANNOTATIONS


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;   OMIM:146590
 alt_id: RDO:0001516
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Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 10588
    sensory system disease 3722
      skin disease 1941
        ichthyosis 51
          Ichthyosis Hystrix, Curth Macklin Type 1
Path 2
Term Annotations click to browse term
  disease 10588
    disease of anatomical entity 10127
      nervous system disease 7788
        sensory system disease 3722
          skin disease 1941
            keratosis 112
              ichthyosis 51
                Ichthyosis Hystrix, Curth Macklin Type 1
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