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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: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: Carmi syndrome;   EB-PA-ACC;   Eb-Pa;   JEB-PA;   aplasia cutis congenita with gastrointestinal atresia;   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: ICD10CM:Q81.8;   NCI:C162474;   ORDO:79403
For additional species annotation, visit the Alliance of Genome Resources.

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junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia		 ClinVar PMID:9792864, PMID:9892956, PMID:10484780, PMID:11328943, PMID:11886501, PMID:12485428, PMID:18955862, PMID:20301304, PMID:23496044, PMID:25741868, PMID:28492532 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480 		JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:9185503, PMID:25741868, PMID:28492532 NCBI chr 3:58,442,904...58,515,124
Ensembl chr 3:58,443,101...58,515,124 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
ClinVar Annotator: match by term: Epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null		 OMIM
ClinVar
CTD		 PMID:6177243, PMID:7545057, PMID:9546354, PMID:9674902, PMID:9792864, PMID:9892956, PMID:10484780, PMID:11328943, PMID:11886501, PMID:12485428, PMID:18348258, PMID:18955862, PMID:20301304, PMID:20301336, PMID:23496044, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by OMIM:226730
ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis with pyloric atresia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      ectodermal dysplasia 250
        junctional epidermolysis bullosa with pyloric atresia 4
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              epidermolysis bullosa 57
                junctional epidermolysis bullosa 8
                  junctional epidermolysis bullosa with pyloric atresia 4
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.