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ONTOLOGY REPORT - ANNOTATIONS


Term:bullous congenital ichthyosiform erythroderma
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Accession:DOID:0060877 term browser browse the term
Definition:An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A.
Synonyms:exact_synonym: Bullous Type Ichthyosis;   Bullous Type of Ichthyosis;   IBS;   Ichthyosis, Bullous Type of Siemens;   Siemens ichthyosis bullosa;   bullous type ichthyoses;   ichthyosis bullosa of Siemens;   superficial epidermolytic ichthyosis
 narrow_synonym: ICHTHYOSIS, BULLOUS TYPE ICHTHYOSIS EXFOLIATIVA
 primary_id: MESH:D053560
 alt_id: OMIM:146800;   RDO:0007624
 xref: GARD:2966;   ORDO:455
For additional species annotation, visit the Alliance of Genome Resources.


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bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Krt2 keratin 2 JBrowse link 7 143,412,858 143,420,463 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14759
    sensory system disease 4231
      skin disease 2240
        ichthyosis 54
          bullous congenital ichthyosiform erythroderma 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            Skin Abnormalities 340
              ichthyosis 54
                bullous congenital ichthyosiform erythroderma 2
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