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Metadata
ID	DOID:14694
Name	Johanson-Blizzard syndrome
Definition	A syndrome 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. http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome
Xrefs	GARD:80 MESH:C535880 MIM:243800 ORDO:2315 SNOMEDCT_US_2023_03_01:75979009 UMLS_CUI:C0175692
Subsets	DO_rare_slim
Synonyms	JBS [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease