Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

RIGID SPINE MUSCULAR DYSTROPHY 1
Synonyms

MYOPATHY, SEPN1-RELATED
ID

http://purl.bioontology.org/ontology/OMIM/602771
altLabel

MYOPATHY, SEPN1-RELATED

RIGID SPINE SYNDROME

MULTICORE MYOPATHY, SEVERE CLASSIC FORM

MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY

RSS

RSMD1

DESMIN-RELATED MYOPATHY WITH MALLORY BODIES

MULTIMINICORE DISEASE, SEVERE CLASSIC FORM

MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE

MDRS1

MINICORE MYOPATHY, SEVERE CLASSIC FORM
cui

C0410180
Gene Locus

1p36-p35
Gene Symbol

CFTD

SELN

RSMD1

SEPN1

SELENON
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU042602

http://purl.bioontology.org/ontology/OMIM/MTHU042600

http://purl.bioontology.org/ontology/OMIM/MTHU036957

http://purl.bioontology.org/ontology/OMIM/MTHU003219

http://purl.bioontology.org/ontology/OMIM/MTHU005239

http://purl.bioontology.org/ontology/OMIM/MTHU000695

http://purl.bioontology.org/ontology/OMIM/MTHU003215

http://purl.bioontology.org/ontology/OMIM/MTHU005245

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU005243

http://purl.bioontology.org/ontology/OMIM/MTHU005251

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU003222

http://purl.bioontology.org/ontology/OMIM/MTHU003220

http://purl.bioontology.org/ontology/OMIM/MTHU003173

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU042601

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU029328

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU004618

http://purl.bioontology.org/ontology/OMIM/MTHU005242

http://purl.bioontology.org/ontology/OMIM/MTHU005238

http://purl.bioontology.org/ontology/OMIM/MTHU003218

http://purl.bioontology.org/ontology/OMIM/MTHU003216

http://purl.bioontology.org/ontology/OMIM/MTHU005248

http://purl.bioontology.org/ontology/OMIM/MTHU005246

http://purl.bioontology.org/ontology/OMIM/MTHU005240

http://purl.bioontology.org/ontology/OMIM/MTHU005244

http://purl.bioontology.org/ontology/OMIM/MTHU003221

http://purl.bioontology.org/ontology/OMIM/MTHU000381

http://purl.bioontology.org/ontology/OMIM/MTHU005250

http://purl.bioontology.org/ontology/OMIM/MTHU000387

http://purl.bioontology.org/ontology/OMIM/MTHU000197
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

253850
notation

602771
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

RIGID SPINE MUSCULAR DYSTROPHY 1
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0110633 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C535683 Medical Subject Headings CUI