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GENE - TERM ANNOTATION REPORT

RGD ID: 1307696
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fitm2
Name: fat storage-inducing transmembrane protein 2
Acc ID: DOID:0081273
Term: Siddiqi syndrome
Definition: A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28067622/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/30214770/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/35754111/ "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)
Fitm2 ISOFITM2 (Homo sapiens)7240710OMIM  
Fitm2 ISOFITM2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Siddiqi syndromePMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795
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