Dandy-Walker syndrome

Summary
Synonym
  • Atresia of foramina of Magendie and Luschka
Definition
A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
Super Class
cerebellar disease
External Links
Disease Ontology
DOID:2785
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 23 in total
Gene ID Gene Symbol Description Source
10585 POMT1 protein O-mannosyltransferase 1
10682 EBP EBP cholestenol delta-isomerase
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
84342 COG8 component of oligomeric golgi complex 8

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024