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(Q53660491)
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English
autosomal dominant mental retardation 47
human disease
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47
MRD47
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No label defined
No description defined
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Statements
instance of
class of disease
0 references
subclass of
autosomal dominant non-syndromic intellectual disability
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0080238
genetic association
STAG1
2 references
stated in
UniProt
UniProt protein ID
Q8WVM7
retrieved
13 August 2019
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000118007/MONDO_0030912
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_0080238
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080238
http://www.orpha.net/ORDO/Orphanet_502434
0 references
Identifiers
Disease Ontology ID
DOID:0080238
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080238
Mondo ID
MONDO_0030912
0 references
OMIM ID
617635
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080238
Orphanet ID
502434
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0030912
UMLS CUI
C4539951
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0030912
C5568769
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-05063
0 references
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Wikiversity
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Multilingual sites
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