ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolytic hyperkeratosis
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Accession:DOID:4603 term browser browse the term
Definition:A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
Synonyms:exact_synonym: BCIE;   BIE;   Bullous Erythroderma Ichthyosiforme;   Bullous Erythroderma Ichthyosiformis Congenita of Brocq;   Bullous Ichthyosiform Erythroderma;   Bullous Ichthyosiform Erythrodermas;   EHK;   bullous congenital ichthyosiform erythroderma;   epidermolytic hyperkeratoses;   epidermolytic ichthyosis;   epidermolytic palmoplantar hyperkeratosis
 primary_id: MESH:D017488
 alt_id: OMIA:001415;   OMIM:113800;   RDO:0003251
 xref: GARD:1039
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epidermolytic hyperkeratosis 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 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:11554173
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:11554173
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:11554173
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:13592920
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:1600166
RGD:8554872
RGD:7240710
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:1600168
RGD:8554872
RGD:7240710
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 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
RGD:8554872
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        ichthyosis 54
          epidermolytic hyperkeratosis 7
            Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 2
            Epidermolytic Hyperkeratosis, Late-Onset 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            keratosis 125
              ichthyosis 54
                epidermolytic hyperkeratosis 7
                  Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 2
                  Epidermolytic Hyperkeratosis, Late-Onset 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.