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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;   EB-PA-ACC;   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
 narrow_synonym: JEB5B;   JEB6;   junctional epidermolysis bullosa 5B, with pyloric atresia;   junctional epidermolysis bullosa 6 with pyloric atresia
 primary_id: MESH:C535377
 alt_id: OMIM:226730;   OMIM:619817
 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: Junctional epidermolysis bullosa with pyloric atresia ClinVar PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 PMID:11886501 More... NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Itga6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar		 PMID:9185503 PMID:14675179 PMID:23496044 PMID:25741868 PMID:27607025 More... NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6177243 PMID:7545057 PMID:9536098 PMID:9546354 PMID:9674902 More... NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Plec plectin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 CTD
ClinVar		 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      ectodermal dysplasia 428
        junctional epidermolysis bullosa with pyloric atresia 4
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            dermatitis 464
              bullous skin disease 151
                vesiculobullous skin disease 138
                  epidermolysis bullosa 81
                    junctional epidermolysis bullosa 9
                      junctional epidermolysis bullosa with pyloric atresia 4
paths to the root