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GENE - TERM ANNOTATION REPORT

RGD ID: 1565122
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ttc21b
Name: tetratricopeptide repeat domain 21B
Acc ID: DOID:9249
Term: Beemer-Langer syndrome
Definition: A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome "DO" "DO", http://www.springerlink.com/content/e0hmfh4fcl7m4kjw/ "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)
Ttc21b ISOTTC21B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Type IV short rib polydactyly syndromePMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:27491411 PMID:28492532 PMID:29068549
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