Search Ontology:
Human Disease

hypomyelinating leukodystrophy 24

Term ID
DOID:0070406
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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