Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Hereditary Myopathy with Early Respiratory Failure

Synonyms

Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

ID

http://purl.bioontology.org/ontology/MESH/C566343

altLabel

Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

Myopathy, Proximal, with Early Respiratory Muscle Involvement

Edstrom Myopathy

HMERF

cui

C1863599

HM

D012131

D030342

D009135

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D030342

http://purl.bioontology.org/ontology/MESH/D009135

http://purl.bioontology.org/ontology/MESH/D012131

MDA

20121105

MeSH Frequency

22

MMR

20191030

notation

C566343

prefLabel

Hereditary Myopathy with Early Respiratory Failure

SC

3

TERMUI

T808314

T845260

T826602

T826601

T804770

TH

OMIM (2013)

GHR (2014)

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/603689 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/188840 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://www.orpha.net/ORDO/Orphanet_178464 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM