BioAssay Ontology

Last uploaded: February 21, 2024
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Preferred Name

metachromatic leukodystrophy
Synonyms

deficiency of cerebroside-sulfatase

sulfatide lipoidosis

MLD

arylsulfatase A deficiency

Scholz cerebral sclerosis
Definitions

A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. Xref MGI. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_10581
comment

Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference

ICD10CM:E75.25

OMIM:249900

SNOMEDCT_US_2020_03_01:3621006

MESH:D007966

OMIM:250100

UMLS_CUI:C0023522

GARD:3230

NCI:C61251

ORDO:512
has exact synonym

deficiency of cerebroside-sulfatase

sulfatide lipoidosis

MLD

arylsulfatase A deficiency

Scholz cerebral sclerosis
has_obo_namespace

disease_ontology
id

DOID:10581
imported from

http://purl.obolibrary.org/obo/doid.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim
label

metachromatic leukodystrophy
notation

DOID:10581
prefLabel

metachromatic leukodystrophy
textual definition

A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
subClassOf

http://purl.obolibrary.org/obo/DOID_1927
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_10581 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_10581 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_10581 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_10581 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_10581 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_10581 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_10581 FNS-H 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://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 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