OBO ID: DOID:0060789
Term Name: hypomyelinating leukodystrophy 4 Search Ontology:
Synonyms:
  • HLD4
  • MitCHAP60 disease
  • mitochondrial HSP60 chaperonopathy
  • Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
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. https://www.ncbi.nlm.nih.gov/pubmed/18571143
References:
Ontology: Human Disease   ( DOID:0060789 )
Relationships
is a type of:
OTHER hypomyelinating leukodystrophy 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSPD1 Leukodystrophy, hypomyelinating, 4 612233
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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