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 7 143,448,318 143,453,544 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      skin disease 2253
        ichthyosis 54
          Ichthyosis Hystrix, Curth Macklin Type 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          skin disease 2253
            keratosis 125
              ichthyosis 54
                Ichthyosis Hystrix, Curth Macklin Type 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.