Preferred Label : Johanson-Blizzard Syndrome;
NCIt synonyms : JBS;
NCIt definition : An extremely rare autosomal recessive condition caused by mutation(s) in the UBR1
gene, encoding E3 ubiquitin-protein ligase UBR1. It is characterized by failure to
thrive, often due to pancreatic insufficiency, craniofacial abnormalities, and intellectual
disability.;
Origin ID : C210826;
concept_is_in_subset
- disease_has_finding
