FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypomyelinating leukodystrophy 4 ID (Ontology) DOID:0060789 (Human Disease)
Definition A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.
Also Known As "HLD4" ; "MitCHAP60 disease" ; "mitochondrial HSP60 chaperonopathy" (for all, see Synonyms field below)
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 hypomyelinating leukodystrophy 4       4
 for disease ribbon | hypomyelinating leukodystrophy 4       4
 model of | hypomyelinating leukodystrophy 4       4
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autosomal genetic disease
 |__autosomal recessive disease_____
leukodystrophy                      |
 |__hypomyelinating leukodystrophy__|
                                    hypomyelinating leukodystrophy 4  4 rec.
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Is a autosomal recessive disease
hypomyelinating leukodystrophy
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Synonyms
  • "HLD4" EXACT OMO:0003012
    "MitCHAP60 disease" EXACT
    "mitochondrial HSP60 chaperonopathy" EXACT
    "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT
Secondary IDs
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ICD10CM:E75.2
MIM:612233
ORDO:280288