porencephaly

Summary
Definition
A brain disease that is characterized by encephalomalacia and cystic brain lesions.
Super Class
brain disease
External Links
Disease Ontology
DOID:0060263
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79709 COLGALT1 collagen beta(1-O)galactosyltransferase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8NBJ5 Procollagen galactosyltransferase 1

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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