Johanson-Blizzard syndrome

Term ID

DOID:14694

Synonyms

• JBS

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

References

• GARD:80
• MESH:C535880
• OMIM:243800
• ORDO:2315
• SNOMEDCT_US_2023_03_01:75979009
• UMLS_CUI:C0175692

Ontology

Human Disease   ( DOID:14694 )