Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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: ITGA6-related condition;   ITGB4-related condition
 xref: ICD10CM:Q81.8;   MESH:C535377;   MIM:226730;   MIM:619817;   MONDO:0009183;   NCI:C162474;   ORDO:79403


show annotations for term's descendants           Sort by:
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 chr10:101,742,067...101,746,244
Ensembl chr10:101,735,061...101,746,258 		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: ITGA6-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 More... NCBI chr 3:77,012,168...77,097,076
Ensembl chr 3:77,017,766...77,097,076 		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:9422533 PMID:9536098 PMID:9546354 More... NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,705,587...101,741,932 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:25080041 PMID:25741868 More... NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		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 PMID:30691450 NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:109,768,447...109,828,089 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      ectodermal dysplasia 550
        junctional epidermolysis bullosa with pyloric atresia 5
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              dermatitis 529
                bullous skin disease 170
                  vesiculobullous skin disease 157
                    epidermolysis bullosa 98
                      junctional epidermolysis bullosa 11
                        junctional epidermolysis bullosa with pyloric atresia 5
paths to the root