Medical Subject Headings

Last uploaded: August 28, 2024
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Preferred Name

Myofibrillar Myopathy
Synonyms

Myofibrillar Myopathies
ID

http://purl.bioontology.org/ontology/MESH/C580316
altLabel

Myofibrillar Myopathies
cui

C2678065
HM

D020914
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D020914
MDA

20131024
MeSH Frequency

80
MMR

20160707
notation

C580316
prefLabel

Myofibrillar Myopathy
SC

3
Scope Statement

A group of herditary myopathies that may be autosomal dominant or recessive. They are caused by mutations in different genes but are morphologically homogeneous. Morphologic changes in skeletal muscle result from disintegration of the sarcomeric Z disc and the MYOFIBRILS, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including DESMIN; ALPHA-B-CRYSTALLIN; DYSTROPHIN; and myotilin (OMIM: 604103). OMIM: 601419
TERMUI

T842101

T842102
TH

GHR (2014)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10087101 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/699269005 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10087101 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU074755 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10087101 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/699269005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/MTHU022743 OMIM CUI
http://purl.obolibrary.org/obo/HP_0003715 HP LOOM
http://purl.obolibrary.org/obo/HP_0003715 UPHENO LOOM
http://purl.obolibrary.org/obo/DOID_0080307 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080307 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080307 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0080307 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080307 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0080307 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Myofibrillar_Myopathy CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087101 MEDDRA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00009578 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C83009 BERO LOOM
http://purl.obolibrary.org/obo/MONDO_0018943 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018943 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018943 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C83009 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C580316 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_68 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_593 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/699269005 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU022743 OMIM LOOM