Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Metachromatic leukodystrophy
Synonyms

Arylsulfatase A deficiency

MLD
ID

http://www.limics.org/hrdo/rdfns#pat_id_112
ageOfOnset

Variable
altLabel

Arylsulfatase A deficiency

MLD
id_MedDRA

10067609
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=leukodystrophy,+metachromatic+(humans+OR+patients+OR+human%5Btw%5D)
id_MeSH

C538597

D007966
id_MIM

156310

249900

250100
id_OMS

E75.2
id_Orpha

512
id_SNOMEDCT

238031009

396338004
id_UMLS

C0023522

C2713319
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_112
prefLabel

Metachromatic leukodystrophy
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
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.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