FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Johanson-Blizzard syndrome ID (Ontology) DOID:14694 (Human Disease)
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.
Also Known As "JBS"
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DO.org
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 Genes
 Johanson-Blizzard syndrome       1
 for disease ribbon | Johanson-Blizzard syndrome       1
 model of | Johanson-Blizzard syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Johanson-Blizzard syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
Part of
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Synonyms
  • "JBS" EXACT OMO:0003012
Secondary IDs
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GARD:80
MESH:C535880
MIM:243800
ORDO:2315
SNOMEDCT_US_2023_03_01:75979009
UMLS_CUI:C0175692