Experimental Factor Ontology

Last uploaded: December 16, 2024

Preferred Name	metachromatic leukodystrophy
Synonyms	deficiency of cerebroside-sulfatase sulfatide lipoidosis Scholz cerebral sclerosis arylsulfatase A deficiency MLD
Definitions	A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
ID	http://purl.obolibrary.org/obo/MONDO_0018868
closeMatch	http://identifiers.org/meddra/10067609
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0018868
database_cross_reference	MEDGEN:6071 NANDO:2200560 UMLS:C0023522 NCIT:C61251 SCTID:396338004 MESH:D007966 Orphanet:512 NANDO:1200078 MedDRA:10067609 SCTID:66521008 icd11.foundation:172326564 SCTID:238031009 DOID:10581 GARD:3230 NORD:1369
definition	A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
exactMatch	http://linkedlifedata.com/resource/umls/id/C0023522 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/172326564 http://identifiers.org/snomedct/66521008 http://identifiers.org/mesh/D007966 http://identifiers.org/snomedct/396338004 http://purl.obolibrary.org/obo/NCIT_C61251 http://www.orpha.net/ORDO/Orphanet_512 http://identifiers.org/medgen/6071 http://purl.obolibrary.org/obo/DOID_10581 http://identifiers.org/snomedct/238031009
has_exact_synonym	deficiency of cerebroside-sulfatase sulfatide lipoidosis Scholz cerebral sclerosis arylsulfatase A deficiency MLD
id	MONDO:0018868
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#clingen http://purl.obolibrary.org/obo/mondo#gard_rare
label	metachromatic leukodystrophy
notation	MONDO:0018868
preferred label	metachromatic leukodystrophy
prefLabel	metachromatic leukodystrophy
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015547 http://purl.obolibrary.org/obo/MONDO_0019255 http://purl.obolibrary.org/obo/MONDO_0019046 http://purl.obolibrary.org/obo/MONDO_0020127

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0018868	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018868	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018868	DOVES	SAME_URI
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://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	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://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