Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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
ID	http://purl.bioontology.org/ontology/OMIM/250100
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
cui	C0751278 C1855255 C0023522 C0751279 C2713319 C0751276
Gene Locus	22q13.31-qter
Gene Symbol	ARSA
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
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	250100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	METACHROMATIC LEUKODYSTROPHY
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]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNMI/D6-74410	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/C565403	MESH	CUI
http://purl.bioontology.org/ontology/CSP/1849-5593	CRISP	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007966	MSHFRE	CUI
http://purl.bioontology.org/ontology/CSP/1849-5593	CRISP	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007966	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/X40VL	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007966	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74420	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/40802007	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/40802007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D007966	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74400	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/47683004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/47683004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007966	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/F1003	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/396338004	SCTSPA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001834	NDFRT	CUI
http://purl.bioontology.org/ontology/MESH/D007966	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74400	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/44359008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10067609	MDRFRE	CUI
http://purl.bioontology.org/ontology/CSP/1849-5593	CRISP	CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.29	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.25	ICD10CM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10067609	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/396338004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10067609	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D007966	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/24326000	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74440	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/X40VN	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/24326000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/66521008	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74510	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D007966	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74400	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/X40VK	RCD	CUI
http://purl.bioontology.org/ontology/CSP/1849-5593	CRISP	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238031009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/238031009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/66521008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/44359008	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D007966	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/44359008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40VM	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74430	SNMI	CUI
http://purl.bioontology.org/ontology/CSP/1849-5593	CRISP	LOOM
http://purl.obolibrary.org/obo/MONDO_0018868	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_10581	DOID	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0023522	OCHV	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12542	NIFDYS	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12542	NIFSTD	LOOM
http://nanbyodata.jp/ontology/NANDO_2200560	NANDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018868	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0018868	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0018868	EFO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200078	NANDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61251	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C61251	BERO	LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12542	BIRNLEX	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Metachromatic_Leukodystrophy	CSEO	LOOM
http://www.co-ode.org/ontologies/galen#MetachromaticLeukodystrophy	GALEN	LOOM
http://purl.bioontology.org/ontology/CSP/1849-5593	CRISP	LOOM
http://www.orpha.net/ORDO/Orphanet_512	ORDO	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.25	ICD10CM	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_112	HRDO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10581	NATPRO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067609	MEDDRA	LOOM
http://purl.obolibrary.org/obo/DOID_10581	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_10581	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_10581	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_10581	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_10581	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_10581	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_10581	FNS-H	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/396338004	SNOMEDCT	LOOM
rgo:07868	GAMUTS	LOOM
http://www.radlex.org/RID/RID34778	RADLEX	LOOM