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3MC syndrome 2
3MC syndrome that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25
Carnevale syndrome
3MC2
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Statements
instance of
class of disease
0 references
subclass of
3MC syndrome
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060576
genetic association
COLEC11
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000118004/EFO_1001977
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060576
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060576
http://identifiers.org/doid/DOID:0060576
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C535586
0 references
Disease Ontology ID
DOID:0060576
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060576
Experimental Factor Ontology ID
1001977
1 reference
based on heuristic
inferred by common DOID mappings on source and on Wikidata
Mondo ID
MONDO_0009927
0 references
OMIM ID
265050
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060576
Orphanet ID
2998
0 references
UniProt disease ID
DI-03130
0 references
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