Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Rigid spine syndrome

Synonyms

Rigid Spine Muscular Dystrophy 1

ID

http://purl.bioontology.org/ontology/MESH/C535683

altLabel

Rigid Spine Muscular Dystrophy 1

Desmin-related myopathies with Mallory bodies

Multiminicore disease, severe classic form

Myopathy, Sepn1-Related

Muscular dystrophy, congenital, merosin positive with early spine rigidity

Desmin-Related Myopathy With Mallory Bodies

Multicore myopathy, severe classic form

Rigid spine muscular dystrophy-1

Minicore myopathy, severe classic form

Muscular Dystrophy, Congenital, Eichsfeld Type

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

cui

C0410180

Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000473

HM

D012600

D059609/Q000473

D009136

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D059609

http://purl.bioontology.org/ontology/MESH/D012600

http://purl.bioontology.org/ontology/MESH/D009136

MDA

20100825

MeSH Frequency

14

MMR

20131106

notation

C535683

prefLabel

Rigid spine syndrome

SC

3

TERMUI

T736879

T801850

T801847

T801846

T736880

T736874

T736876

T736881

T801844

T736878

T801849

T736873

TH

ORD (2010)

OMIM (2013)

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/606210 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/602771 Online Mendelian Inheritance in Man CUI