FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypomyelinating leukodystrophy 9 ID (Ontology) DOID:0060791 (Human Disease)
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.
Also Known As "HLD9" ; "RARS-related autosomal recessive hypomyelinating leukodystrophy"
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 hypomyelinating leukodystrophy 9       1
 for disease ribbon | hypomyelinating leukodystrophy 9       1
 model of | hypomyelinating leukodystrophy 9       1
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autosomal genetic disease
 |__autosomal recessive disease_____
leukodystrophy                      |
 |__hypomyelinating leukodystrophy__|
                                    hypomyelinating leukodystrophy 9  1 rec.
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Is a autosomal recessive disease
hypomyelinating leukodystrophy
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Synonyms
  • "HLD9" EXACT OMO:0003012
    "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT
Secondary IDs
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ICD10CM:E75.2
MIM:616140
ORDO:438114