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(Q66084966)
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English
autosomal dominant hyaline body myopathy
A hyaline body myopathy that has material basis in heterozygous mutation in MYH7 on 14q11.2.
MSMA
myopathy with lysis of type I myofibrils
Myopathy, myosin storage, autosomal dominant
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Statements
instance of
class of disease
0 references
subclass of
hyaline body myopathy
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111269
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111269
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0111269
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111269
http://identifiers.org/doid/DOID:0111269
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111269
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111269
OMIM ID
608358
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0111269
UniProt disease ID
DI-02021
0 references
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