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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;   OMIM:146590
 alt_id: RDO:0001516
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      skin disease 2746
        ichthyosis 62
          Ichthyosis Hystrix, Curth Macklin Type 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            keratosis 137
              ichthyosis 62
                Ichthyosis Hystrix, Curth Macklin Type 1
paths to the root