pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
http://purl.obolibrary.org/obo/MONDO_0013881
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. [ https://orcid.org/0000-0001-5208-3432 Orphanet:306504 ]
Term info
- Orphanet:306504 (OMIM:614748)
- OMIM:614748 (Orphanet:306504/e)
- UMLS:C3553636 (OMIM:614748)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4069
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.
http://purl.obolibrary.org/obo/Orphanet_306504, https://omim.org/entry/614748
http://purl.obolibrary.org/obo/MONDO_0019723, http://purl.obolibrary.org/obo/MONDO_0017015, http://purl.obolibrary.org/obo/MONDO_0005087
congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome, congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome, congenital ILNEB syndrome, JEB-RR, congenital NEP syndrome, congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome, JEB with respiratory and renal involvement
ILNEB, interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, junctional epidermolysis bullosa with respiratory and renal involvement
MONDO:0013881