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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;   JEB5B;   JEB6;   aplasia cutis congenita with gastrointestinal atresia;   epidermolysis bullosa junctionalis with pyloric atresia;   epidermolysis bullosa with pyloric atresia;   junctional epidermolysis bullosa 5B, with pyloric atresia;   junctional epidermolysis bullosa 6 with pyloric atresia;   junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita;   junctional epidermolysis bullosa-pyloric atresia syndrome
 broad_synonym: ITGB4-RELATED CONDITION
 primary_id: MESH:C535377
 alt_id: OMIM:226730;   OMIM:619817
 xref: ICD10CM:Q81.8;   NCI:C162474;   ORDO:79403


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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 Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 ClinVar PMID:9536098 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 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:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:226730
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 OMIM
CTD
MouseDO
ClinVar		 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: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 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 21128
    syndrome 10833
      ectodermal dysplasia 540
        junctional epidermolysis bullosa with pyloric atresia 4
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              dermatitis 481
                bullous skin disease 165
                  vesiculobullous skin disease 152
                    epidermolysis bullosa 94
                      junctional epidermolysis bullosa 9
                        junctional epidermolysis bullosa with pyloric atresia 4
paths to the root