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Johanson-Blizzard syndrome

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
Uniprot Description This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis.
Disease Ontology Description An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.
Mondo Term and Equivalent IDs
MONDO:0009479:  Johanson-Blizzard syndrome
EFO:0001063: 
GARD:0000080: 
MESH:C535880: 
MESH:C564907: 
Orphanet:2315: 
SCTID:75979009: 
UMLS:C0175692: 
UMLS:C1850081: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)