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GENE - TERM ANNOTATION REPORT

RGD ID: 732897
Species: Homo sapiens
RGD Object: Gene
Symbol: PDGFRB
Name: platelet derived growth factor receptor beta
Acc ID: HP:0001305
Term: Dandy-Walker malformation
Definition: A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:26246090
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)
PDGFRB IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dandy-Walker malformation

PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28639748 PMID:30941910 PMID:31004414 PMID:31474318
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