OBO ID: DOID:0060791
Term Name: hypomyelinating leukodystrophy 9 Search Ontology:
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)
OTHER hypomyelinating leukodystrophy 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RARS1 Leukodystrophy, hypomyelinating, 9 616140
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None