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GENE - TERM ANNOTATION REPORT

RGD ID: 18930118
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Phip
Name: pleckstrin homology domain interacting protein
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)
Phip ISOPHIP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maple syrup urine diseasePMID:16786533 PMID:22593002 PMID:24571530 PMID:28492532
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