OBO ID: DOID:10581
Term Name: metachromatic leukodystrophy Search Ontology:
Synonyms:
  • arylsulfatase A deficiency
  • deficiency of cerebroside-sulfatase
  • MLD
  • Scholz cerebral sclerosis
  • sulfatide lipoidosis
Definition: A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (2)
References:
Ontology: Human Disease   ( DOID:10581 )
Relationships
is a type of:
OTHER metachromatic leukodystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARSA Metachromatic leukodystrophy 250100
PSAP Metachromatic leukodystrophy due to SAP-b deficiency 249900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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