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DOID DOID:14694
Name Johanson-Blizzard syndrome
Definition 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.
http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome
Xrefs

GARD:80

MESH:C535880

OMIM:243800

SNOMEDCT_US_2018_03_01:75979009

UMLS_CUI:C0175692

Relationships

is_a autosomal recessive disease

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