PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Leukodystrophy

Synonyms
Definitions

Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes.

ID

http://www.phoc.org.cn/pmo/class/PMO_00009907

Database_Cross_Reference

MDR:10024280

ICD9CM:330.0

SNOMEDCT_US:192781003

SNM:D-1407

SNMI:D6-74230

MTHICD9:330.0

MEDLINEPLUS:1718

SNOMEDCT_US:5101009

MDR:10024381

MDR:10068202

SNOMEDCT_US:192785007

DO:DOID:10579

HPO:HP:0002415

RCD:F100z

OMIM:MTHU037739

RCD:F100.

CHV:0000007363

NCI:C61253

CSP:1849-5479

Definition

Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes.

label

Leukodystrophy

MCID

MC00007513

PMOID

PMO:00009907

prefixIRI

pmo:PMO_00009907

prefLabel

Leukodystrophy

Synonym

Leukodystrophy

leucodystrophies

Leukodystrophy (disorder)

Leukodystrophy NOS

Leukodystrophy, NOS

Degeneration of white matter of brain

Leucodystrophy

Leucodystrophy NOS (disorder)

Leucodystrophy NOS

Leukodystrophies

Leucodystrophy (disorder)

Tree Number

T3.17.4.5.9.6

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00009897

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Delete Mapping To Ontology Source
http://www.gamuts.net/entity#leukodystrophy GAMUTS LOOM
http://purl.obolibrary.org/obo/Leukodystrophy NND_ND LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/192781003 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61253 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037739 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10024381 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10579 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_10579 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10579 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10579 DOID LOOM
http://purl.obolibrary.org/obo/DOID_10579 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10579 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10579 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10579 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_10579 FNS-H LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1769 IFAR LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Leukodystrophy CSEO LOOM
http://scai.fraunhofer.de/CSEO#CSEO_00000210 CSEO LOOM
http://www.orpha.net/ORDO/Orphanet_68356 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C61253 BERO LOOM
http://purl.obolibrary.org/obo/HP_0002415 HP LOOM
http://purl.obolibrary.org/obo/HP_0002415 UPHENO LOOM
http://doe-generated-ontology.com/OntoAD#C0023520 ONTOAD LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10495 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019046 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019046 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019046 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019046 KTAO LOOM
http://purl.bioontology.org/ontology/ICD9CM/330.0 ICD9CM LOOM
http://purl.bioontology.org/ontology/CSP/1849-5479 CRISP LOOM