Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	limb-girdle muscular dystrophy
Synonyms	limb girdle muscular dystrophy
Definitions	A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. Xref MGI. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_11724
comment	Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference	GARD:6907 UMLS_CUI:C0686353 SNOMEDCT_US_2022_09_01:56096001 MESH:D049288 ORDO:263 NCI:C84828 ICD10CM:G71.03
definition	A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
has exact synonym	limb girdle muscular dystrophy Leyden-Mbius muscular dystrophy Erb's muscular dystrophy
has_obo_namespace	disease_ontology
id	DOID:11724
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	limb-girdle muscular dystrophy
notation	DOID:11724
prefLabel	limb-girdle muscular dystrophy
subClassOf	http://purl.obolibrary.org/obo/DOID_9884

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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84828	National Cancer Institute Thesaurus	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/8C70.4	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.obolibrary.org/obo/HP_0006785	Human Phenotype Ontology China	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU047724	Online Mendelian Inheritance in Man	LOOM