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GENE - TERM ANNOTATION REPORT

RGD ID: 1359106
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hmgn3
Name: high mobility group nucleosomal binding domain 3
Acc ID: DOID:9269
Term: maple syrup urine disease
Definition: An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. (DO)
Definition Source(s): http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease "DO" "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)
Hmgn3 ISOHMGN3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maple syrup urine diseasePMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532 PMID:29740478
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