Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Muscular dystrophy

Synonyms

Muscle biopsy shows dystrophic changes

Congenital muscular dystrophy

Definitions

Muscular dystrophy can be demonstrated by muscle biopsy. 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://purl.obolibrary.org/obo/HP_0003560

comment

Muscular dystrophy can be demonstrated by muscle biopsy.

database_cross_reference

UMLS:C0026850

UMLS:C1864711

SNOMEDCT_US:193225000

MSH:D009136

SNOMEDCT_US:73297009

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://purl.obolibrary.org/obo/MP_0000752

has related synonym

Muscle biopsy shows dystrophic changes

has_alternative_id

HP:0003544

HP:0003741

HP:0003793

HP:0003806

HP:0007081

has_narrow_synonym

Congenital muscular dystrophy

id

HP:0003560

label

Muscular dystrophy

notation

HP:0003560

prefLabel

Muscular dystrophy

subClassOf

http://purl.obolibrary.org/obo/MP_0002108

http://purl.obolibrary.org/obo/HP_0011805

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0003560 OBA SAME_URI
http://purl.obolibrary.org/obo/HP_0003560 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/HP_0003560 HP SAME_URI
http://purl.obolibrary.org/obo/HP_0003560 OBA SAME_URI
http://purl.obolibrary.org/obo/HP_0003560 MAXO SAME_URI
http://purl.obolibrary.org/obo/HP_0003560 OBA 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020121 MONDO 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 DOID 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://www.phoc.org.cn/pmo/class/PMO_00009569 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/HP_0003560 HP LOOM
http://purl.obolibrary.org/obo/HP_0003560 OBA 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