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(Q3042104)
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English
dysferlinopathy
human disease
Dysferlinopathy
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
muscular disease
0 references
qualitative or quantitative protein defects in neuromuscular diseases
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016145
genetic association
DYSF
2 references
stated in
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
stated in
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
Identifiers
MeSH descriptor ID
C537995
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016145
GARD rare disease ID
2003
0 references
Mondo ID
MONDO_0016145
0 references
OMIM ID
253601
0 references
254130
0 references
Orphanet ID
207073
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016145
UMLS CUI
C2931687
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016145
Sitelinks
Wikipedia
(2 entries)
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enwiki
Dysferlinopathy
frwiki
Dysferlinopathie
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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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