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GENE - TERM ANNOTATION REPORT

RGD ID: 1306997
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Wdr19
Name: WD repeat domain 19
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)
Wdr19 ISOWDR19 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Type IV short rib polydactyly syndromePMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549
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