Online Mendelian Inheritance in Man - METACHROMATIC LEUKODYSTROPHY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/250100 http://purl.bioontology.org/ontology/OMIM/250100
Preferred Name	METACHROMATIC LEUKODYSTROPHY
Synonyms	ARSA DEFICIENCY MLD SULFATIDE LIPIDOSIS METACHROMATIC LEUKODYSTROPHY, ADULT METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE CEREBROSIDE SULFATASE DEFICIENCY CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM METACHROMATIC LEUKODYSTROPHY, JUVENILE ARYLSULFATASE A DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY METACHROMATIC LEUKOENCEPHALOPATHY See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ARSA DEFICIENCY MLD SULFATIDE LIPIDOSIS METACHROMATIC LEUKODYSTROPHY, ADULT METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE CEREBROSIDE SULFATASE DEFICIENCY CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM METACHROMATIC LEUKODYSTROPHY, JUVENILE ARYLSULFATASE A DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY METACHROMATIC LEUKOENCEPHALOPATHY See more See less
prefLabel	METACHROMATIC LEUKODYSTROPHY
Gene Symbol	ARSA
Scope Statement	Juvenile onset 4 years to puberty [MISCELLANEOUS] Pseudoarylsulfatase A deficiency is an allelic disorder with reduced levels of ARSA activity, but no neurologic manifestations [MISCELLANEOUS] Late infantile onset 6-24 months [MISCELLANEOUS] Adult onset form usually presents with psychiatric manifestations [MISCELLANEOUS] Caused by mutation in the arylsulfatase A gene (ARSA, 607574.0003) [MOLECULAR BASIS] Adult onset after puberty [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU011632 http://purl.bioontology.org/ontology/OMIM/MTHU011634 http://purl.bioontology.org/ontology/OMIM/MTHU002302 http://purl.bioontology.org/ontology/OMIM/MTHU010663 http://purl.bioontology.org/ontology/OMIM/MTHU002306 http://purl.bioontology.org/ontology/OMIM/MTHU011633 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU003012 http://purl.bioontology.org/ontology/OMIM/MTHU003622 http://purl.bioontology.org/ontology/OMIM/MTHU002750 http://purl.bioontology.org/ontology/OMIM/MTHU011631 http://purl.bioontology.org/ontology/OMIM/MTHU011640 http://purl.bioontology.org/ontology/OMIM/MTHU011635 http://purl.bioontology.org/ontology/OMIM/MTHU003010 http://purl.bioontology.org/ontology/OMIM/MTHU011639 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU003009 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU011629 http://purl.bioontology.org/ontology/OMIM/MTHU011637 http://purl.bioontology.org/ontology/OMIM/MTHU036392 http://purl.bioontology.org/ontology/OMIM/MTHU008026 http://purl.bioontology.org/ontology/OMIM/MTHU010474 http://purl.bioontology.org/ontology/OMIM/MTHU004025 http://purl.bioontology.org/ontology/OMIM/MTHU011641 http://purl.bioontology.org/ontology/OMIM/MTHU011630 http://purl.bioontology.org/ontology/OMIM/MTHU011638 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU009746 http://purl.bioontology.org/ontology/OMIM/MTHU011628 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU036678 http://purl.bioontology.org/ontology/OMIM/MTHU036401 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU011636 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	22q13.31-qter
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	250100
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0751278 C1855255 C0023522 C0751279 C2713319 C0751276 See more See less
OMIM Entry Type	3
OMIM MimType Value	pound

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