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GENE - TERM ANNOTATION REPORT

RGD ID: 1307752
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rab5if
Name: RAB5 interacting factor
Acc ID: DOID:0081072
Term: craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Definition: A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/20018682/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/24194475/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/30556256/ "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)
Rab5if ISORAB5IF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromePMID:24194475 PMID:35614220
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