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Preferred Name

metachromatic leukodystrophy
Synonyms

sulfatide lipoidosis

metachromatic leukoencephaly

arylsulfatase A deficiency

metachromatic leukoencephalopathy
Definitions

autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs.
ID

http://purl.bioontology.org/ontology/CSP/1849-5593
altLabel

sulfatide lipoidosis

metachromatic leukoencephaly

arylsulfatase A deficiency

metachromatic leukoencephalopathy
cui

C0023522

C2713319
definition

autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs.
DID

1849-5593
Inverse of RB

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/1849-5878

http://purl.bioontology.org/ontology/CSP/1849-5479
Inverse of RO

http://purl.bioontology.org/ontology/CSP/1254-7856
notation

1849-5593
prefLabel

metachromatic leukodystrophy
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/1849-5878

http://purl.bioontology.org/ontology/CSP/1849-5479
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D007966 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/66521008 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/F1003 RCD CUI
http://purl.bioontology.org/ontology/OMIM/250100 OMIM 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/ICD10CM/E75.29 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.25 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/607574 OMIM 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/SNMI/D6-74510 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/250100 OMIM 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/SNOMEDCT/238031009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/238031009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/66521008 SNOMEDCT CUI
http://sbmi.uth.tmc.edu/ontology/ochv#C0023522 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/250100 OMIM 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018868 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018868 DOVES 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://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 DOID 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