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Compton-North congenital myopathy
Human disease
MYOPATHY, CONGENITAL, COMPTON-NORTH
MYPCN
MYOPATHY, CONGENITAL, COMPTON-NORTH; MYPCN
Congenital lethal myopathy, Compton-North type
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No label defined
No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
congenital myopathy
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0080101
genetic association
CNTN1
2 references
stated in
UniProt
UniProt protein ID
Q12860
retrieved
13 August 2019
stated in
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0080101
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080101
http://identifiers.org/doid/DOID:0080101
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233
http://www.orpha.net/ORDO/Orphanet_210163
0 references
Identifiers
MeSH descriptor ID
C567261
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012929
Disease Ontology ID
DOID:0080101
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080101
ICD-10-CM
G71.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012929
Mondo ID
MONDO_0012929
0 references
OMIM ID
612540
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080101
Orphanet ID
210163
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012929
UMLS CUI
C2675527
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012929
C4750773
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-01385
0 references
Sitelinks
Wikipedia
(1 entry)
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enwiki
Compton-North congenital myopathy
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Wikinews
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Wikiversity
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Wiktionary
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Multilingual sites
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