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GENE - TERM ANNOTATION REPORT

CRRD ID: 11708578
Species: Pan paniscus
CRRD Object: Gene
Symbol: UBR1
Name: ubiquitin protein ligase E3 component n-recognin 1
Acc ID: DOID:14694
Term: 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. (DO)
Definition Source(s): url:http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
UBR1 ISORGD:13472807240710OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.