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(Q24960551)
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English
distal muscular dystrophy 4
distal muscular dystrophy that has material basis in heterozygous mutation in FLNC on 7q32
distal myopathy 4
distal myopathy with posterior leg and anterior hand involvement
distal ABD-filaminopathy
MPD4
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
distal muscular dystrophy
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111190
genetic association
FLNC
1 reference
stated in
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0111190
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111190
http://identifiers.org/doid/DOID:0111190
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111190
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111190
Google Knowledge Graph ID
/g/11cjkw3q56
0 references
OMIM ID
614065
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0111190
Orphanet ID
63273
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0111190
UniProt disease ID
DI-03144
0 references
Sitelinks
Wikipedia
(1 entry)
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eswiki
Filaminopatía ABD distal
Wikibooks
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Wikinews
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Wikiquote
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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