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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;   NCI:C84777;   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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      skin disease 2461
        ichthyosis 55
          bullous congenital ichthyosiform erythroderma 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            Skin Abnormalities 500
              ichthyosis 55
                bullous congenital ichthyosiform erythroderma 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.