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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

OMIM:243800

ORDO:2315

SNOMEDCT_US_2020_09_01:75979009

UMLS_CUI:C0175692

Synonyms

JBS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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