ONTOLOGY REPORT - ANNOTATIONS


Term:junctional epidermolysis bullosa with pyloric atresia
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Accession:DOID:0060733 term browser browse the term
Definition:A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. (DO)
Synonyms:exact_synonym: Aplasia cutis congenita with gastrointestinal atresia;   Carmi syndrome;   EB-PA-ACC;   Eb-Pa;   JEB-PA;   epidermolysis bullosa junctionalis with pyloric atresia;   epidermolysis bullosa with pyloric atresia;   junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita;   junctional epidermolysis bullosa-pyloric atresia syndrome
 primary_id: MESH:C535377
 alt_id: OMIM:226730;   RDO:0000466
 xref: ORDO:79403
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junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:8554872
G Itga6 integrin subunit alpha 6 JBrowse link 3 58,442,904 58,515,124 RGD:7240710
RGD:8554872
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
RGD:8554872
RGD:11554173
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:8554872
RGD:11554173

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Path 1
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  disease 14823
    syndrome 4218
      ectodermal dysplasia 142
        junctional epidermolysis bullosa with pyloric atresia 4
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
            Genetic Skin Diseases 580
              epidermolysis bullosa 22
                junctional epidermolysis bullosa 8
                  junctional epidermolysis bullosa with pyloric atresia 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.