Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Muscular dystrophy

Synonyms

Muscle biopsy shows dystrophic changes

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

SNOMEDCT_US:73297009

UMLS:C0026850

MSH:D009136

SNOMEDCT_US:193225000

UMLS:C1864711

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.

has_alternative_id

HP:0003544

HP:0003806

has_obo_namespace

human_phenotype

has_related_synonym

Muscle biopsy shows dystrophic changes

id

HP:0003560

label

Muscular dystrophy

notation

HP:0003560

prefLabel

Muscular dystrophy

treeView

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

subClassOf

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

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http://purl.obolibrary.org/obo/MONDO_0020121 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0020121 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_9884 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_9884 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10/G71.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037519 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://www.orpha.net/ORDO/Orphanet_98473 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84910 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/8C70 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM