Mondo Disease Ontology

Last uploaded: November 25, 2024
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Preferred Name

congenital myopathy 7A, myosin storage, autosomal dominant
Synonyms

scapuloperoneal myopathy, MYH7-related

myopathy with lysis of type 1 myofibrils

MYH7-related scapuloperoneal myopathy

SPMD

scapuloperoneal muscular dystrophy

SPMM

myopathy, hyaline body, autosomal dominant

MYH7-related late-onset scapuloperoneal muscular dystrophy

MSMA

myopathy, myosin storage, autosomal dominant

scapuloperoneal syndrome, myopathic type

autosomal dominant myosin storage myopathy

MYH7-related late-onset SPMD

MYH7-related late-onset scapuloperoneal syndrome
ID

http://purl.obolibrary.org/obo/MONDO_0008409
database_cross_reference

Orphanet:437572

Orphanet:636965

MESH:C564253

DOID:0111269

OMIM:181430

OMIM:608358

GARD:15429

ICD9:359.89

UMLS:C1842160

MEDGEN:374868
has_exact_synonym

scapuloperoneal myopathy, MYH7-related

myopathy with lysis of type 1 myofibrils

MYH7-related scapuloperoneal myopathy

SPMD

scapuloperoneal muscular dystrophy

SPMM

myopathy, hyaline body, autosomal dominant

MYH7-related late-onset scapuloperoneal muscular dystrophy

MSMA

myopathy, myosin storage, autosomal dominant

scapuloperoneal syndrome, myopathic type

autosomal dominant myosin storage myopathy

MYH7-related late-onset SPMD

MYH7-related late-onset scapuloperoneal syndrome
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6045
id

MONDO:0008409
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

congenital myopathy 7A, myosin storage, autosomal dominant
notation

MONDO:0008409
prefLabel

congenital myopathy 7A, myosin storage, autosomal dominant
skos_exactMatch

http://identifiers.org/mesh/C564253

https://omim.org/entry/608358

http://purl.obolibrary.org/obo/DOID_0111269

http://purl.obolibrary.org/obo/Orphanet_636965

http://linkedlifedata.com/resource/umls/id/C1842160

http://identifiers.org/medgen/374868
treeView

http://purl.obolibrary.org/obo/MONDO_0016195

http://purl.obolibrary.org/obo/MONDO_0019952

http://purl.obolibrary.org/obo/MONDO_0000727

http://purl.obolibrary.org/obo/MONDO_0002320
subClassOf

http://purl.obolibrary.org/obo/MONDO_0016195

http://purl.obolibrary.org/obo/MONDO_0019952

http://purl.obolibrary.org/obo/MONDO_0000727

http://purl.obolibrary.org/obo/MONDO_0002320
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