Search Ontology:
Human Disease
hypomyelinating leukodystrophy 24
- Term ID
- DOID:0070406
- Synonyms
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- HLD24
- Definition
- A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. https://pubmed.ncbi.nlm.nih.gov/34403372/
- References
- Ontology
- Human Disease ( DOID:0070406 )
- is a type of
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Genes Involved
Zebrafish Models