Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SCAPULOPERONEAL MYOPATHY, MYH7-RELATED
Synonyms

SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE
ID

http://purl.bioontology.org/ontology/OMIM/181430
altLabel

SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE

SCAPULOPERONEAL MUSCULAR DYSTROPHY

SPMM

SPMD
cui

C0751337
Gene Locus

14q12
Gene Symbol

MYH7

SPMM

CMD1S

CMH1

SPMD

MPD1
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

181430
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SCAPULOPERONEAL MYOPATHY, MYH7-RELATED
tui

T047
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http://purl.bioontology.org/ontology/MESH/D020389 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.0 International Classification of Diseases, Version 10 - Clinical Modification CUI