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English
sarcoglycanopathy
collection of diseases resulting from mutations in any of the four sarcoglycan genes
qualitative or quantitative defects of sarcoglycan
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Statements
instance of
class of disease
0 references
subclass of
autosomal recessive limb-girdle muscular dystrophy
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_0016140
health specialty
rheumatology
1 reference
inferred from
Medical Subject Headings
neurology
1 reference
inferred from
Medical Subject Headings
exact match
http://www.orpha.net/ORDO/Orphanet_207052
0 references
Identifiers
MeSH descriptor ID
D058088
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016140
MeSH tree code
C05.651.534.500.280.500
0 references
C08.618.923
0 references
C10.668.491.175.500.149.500
0 references
C14.280.238.812
0 references
C16.320.577.280.500
0 references
KEGG ID
H00565
0 references
Microsoft Academic ID
2779561866
0 references
Mondo ID
MONDO_0016140
0 references
Orphanet ID
207052
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016140
UMLS CUI
C2936331
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016140
Sitelinks
Wikipedia
(2 entries)
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bswiki
Sarkoglikanopatija
enwiki
Sarcoglycanopathy
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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