has material basis in germline mutation in ITGB4 junctional epidermolysis bullosa with pyloric atresia https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia https://www.malacards.org/card/epidermolysis_bullosa_junctional_5b_with_pyloric_atresia Orphanet:79403 junctional epidermolysis bullosa with pyloric atresia MONDO:0009183 GARD:0009694 epidermolysis bullosa junctionalis with pyloric atresia icd11.foundation:1877890811 OMIM:226730 aplasia cutis congenita with gastrointestinal atresia junctional epidermolysis bullosa - pyloric atresia JEB-PA Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract. MESH:C535377 epidermolysis bullosa with pyloric atresia epidermolysis bullosa, junctional, with pyloric atresia JEB-Pa epidermolysis bullosa, junctional, with pyloric stenosis MEDGEN:1810975 DOID:0060733 NANDO:2201380 EB-Pa-ACC Carmi syndrome UMLS:C5676875 epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita epidermolysis bullosa JUNCTIONALIS with pyloric atresia junctional epidermolysis bullosa