ZFIN Human Disease: Johanson-Blizzard syndrome

OBO ID: DOID:14694

Term Name:	Johanson-Blizzard syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Johanson-Blizzard syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UBR1	ubr1	Johanson-Blizzard syndrome	243800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None