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GENE - TERM ANNOTATION REPORT

RGD ID: 1593311
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Spem1
Name: spermatid maturation 1
Acc ID: DOID:4258
Term: Weissenbacher-Zweymuller syndrome
Definition: An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome "DO" "DO", http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351 "DO" "DO", http://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1 "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)
Spem1 ISOSPEM1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 
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