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General Information
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| Term |
hypomyelinating leukodystrophy 3 |
ID (Ontology) |
DOID:0060790 (Human Disease) |
| Definition |
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. |
| Also Known As |
"HLD3" ; "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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hypomyelinating leukodystrophy 3 | 1 | for disease ribbon | hypomyelinating leukodystrophy 3 | 1 | model of | hypomyelinating leukodystrophy 3 | 1 |
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Relationships