Search Ontology:
Human Disease

hypomyelinating leukodystrophy 9

Term ID
DOID:0060791
Synonyms
  • HLD9
  • RARS-related autosomal recessive hypomyelinating leukodystrophy
Definition
A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. https://www.ncbi.nlm.nih.gov/pubmed/24777941
References
Ontology
Human Disease   ( DOID:0060791 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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