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Standards Ontologies Notations
hypomyelinating leukodystrophy

Summary
Synonym
  • HLD
Definition
A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging.
Super Class
leukodystrophy
Disease Ontology
DOID:0060786
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
8560 DEGS1 delta 4-desaturase, sphingolipid 1
11128 POLR3A RNA polymerase III subunit A
55703 POLR3B RNA polymerase III subunit B
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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: December 9, 2024