PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Muscular Dystrophy

Synonyms
Definitions

The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.

ID

http://www.phoc.org.cn/pmo/class/PMO_00009569

Database_Cross_Reference

SNMI:DA-51100

RCD:F391z

MTH:NOCODE

SNOMEDCT_US:267712004

CCPSS:0046013

ICD10:G71.0

SNM:D-8020

SNOMEDCT_US:44292004

ICD10CM:G71.0

PSY:32610

MDR:10019897

COSTAR:NOCODE

PSY:15700

SNOMEDCT_US:193236007

ICPC2P:L99093

LCH:U003066

SNMI:DA-51200

ICPC2P:N99007

OMIM:MTHU037519

MDR:10028356

DO:DOID:9884

NCI:C84910

SNM:D-8021

MEDLINEPLUS:335

MSH:D009136

NDFRT:N0000002065

NCI:OMFAQ

RCD:F391.

CSP:1849-6662

MTHICD9:359.1

AOD:0000005065

MDR:10028357

MEDCIN:32350

SNM:NOCODE

SNOMEDCT_US:193257004

SNOMEDCT_US:155095006

LCH_NW:sh85088693

SNOMEDCT_US:73297009

ICD10AM:G71.0

NCI_NICHD:C84910

HPO:HP:0003560

CHV:0000008362

ICD9CM:359.1

RCD:Xa0lL

SNOMEDCT_US:193225000

Definition

The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.

equivalentClass

http://www.phoc.org.cn/pmo/class/PMO_00036711

label

Muscular Dystrophy

MCID

MC00008500

PMOID

PMO:00009569

prefixIRI

pmo:PMO_00009569

prefLabel

Muscular Dystrophy

Synonym

Progressive muscular dystrophy, hereditary

Muscular Dystrophy

Hereditary progressive muscular dystrophy, NOS

Muscular dystrophy syndrome

Dystrophies, Muscular

Heredit.progres.musc.dystrophy

Congenital progressive muscular dystrophy

Hereditary progressive muscular dystrophy (disorder)

Myodystrophicas

Muscular Dystrophies [Disease/Finding]

MD

Myodystrophica

Muscular dystrophy NOS

Myodystrophies

Muscular Dystrophies

Dystrophic Muscle Diseases and Syndromes

Hered.progres.musc.dystr. NOS

Hereditary progressive muscular dystrophy NOS (disorder)

Myodystrophy

Hereditary progressive muscular dystrophy

Progressive muscular dystrophy

PMD - Progressive muscul dystr

progressive muscular dystrophy (diagnosis)

Dystrophy (Muscular)

Muscular dystrophy (disorder)

Muscular dystrophy, NOS

Hereditary progressive muscular dystrophy NOS

Dystrophy;muscular

Hered prog musc dystrphy

PMD - Progressive muscular dystrophy

MD - Muscular dystrophy

Dystrophy, Muscular

Dystrophic muscle disease or syndrome

Tree Number

T3.11.9.8

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00037735

http://www.phoc.org.cn/pmo/class/PMO_00036558

http://www.phoc.org.cn/pmo/class/PMO_00009457

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9884 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0020121 EFO LOOM
http://purl.obolibrary.org/obo/HP_0003560 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020121 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_9884 DOID LOOM
http://purl.obolibrary.org/obo/HP_0003560 OBA LOOM
http://purl.obolibrary.org/obo/HP_0003560 HP LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Muscular_Dystrophy APANEUROCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Muscular_Dystrophy APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Muscular_Dystrophy APAONTO LOOM
http://purl.jp/bio/4/id/200906004520193628 IOBC LOOM
http://purl.org/autism-ontology/1.0/autism-rules.owl#Muscular_Dystrophy ADAR LOOM
http://www.ebi.ac.uk/efo/EFO_0000757 CLO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028356 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0020121 DOVES LOOM
http://doe-generated-ontology.com/OntoAD#C0026850 ONTOAD LOOM
http://purl.bioontology.org/ontology/CSP/1849-6662 CRISP LOOM
http://purl.obolibrary.org/obo/DERMO_0001794 DERMO LOOM
http://purl.bioontology.org/ontology/RCTV2/F39B.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD10/G71.0 ICD10 LOOM
http://bmi.utah.edu/ontologies/hfontology/C0026850 HFO LOOM
http://purl.obolibrary.org/obo/NCIT_C84910 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037519 OMIM LOOM
http://www.gamuts.net/entity#muscular_dystrophy GAMUTS LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1657 IFAR LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.0 ICD10CM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0026850 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/73297009 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_98473 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84910 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13490 HRDO LOOM
http://purl.bioontology.org/ontology/ICPC2P/L99093 ICPC2P LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Muscular_Dystrophy PEDTERM LOOM
http://purl.obolibrary.org/obo/DOID_9884 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9884 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9884 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9884 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9884 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_9884 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/Xa0lL RCD LOOM
http://purl.obolibrary.org/obo/HP_0003560 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0003560 MAXO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9884 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Muscular_Dystrophy CSEO LOOM