has characteristic has characteristic has material basis in germline mutation in ITGA3 respiratory system disorder epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/epidermolysis_bullosa_junctional_7_with_interstitial_lung_disease_and_nephrotic_syndrome MEDGEN:1388385 GARD:0017377 A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. ILNEB interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital congenital NEP syndrome JEB with respiratory and renal involvement congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome OMIM:614748 JEB-RR Orphanet:306504 UMLS:C4518785 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome MONDO:0013881 congenital ILNEB syndrome primary interstitial lung disease specific to childhood junctional epidermolysis bullosa obsolete disease of glomerular basement membrane congenital