Human Gene Set: HP_LEUKODYSTROPHY


Standard name HP_LEUKODYSTROPHY
Systematic name M35823
Brief description Leukodystrophy
Full description or abstract Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. [https://orcid.org/0000-0002-0736-9199, PMID:30620693]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002415
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002415
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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