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GENE - TERM ANNOTATION REPORT

RGD ID: 1308582
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Shmt2
Name: serine hydroxymethyltransferase 2
Acc ID: DOID:0070543
Term: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Definition: An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/33015733/ "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)
Shmt2 ISOSHMT2 (Homo sapiens)7240710OMIM  
Shmt2 ISOSHMT2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related conditionPMID:25741868 PMID:33015733
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