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(Q53660479)
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English
autosomal dominant mental retardation 54
human disease
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54
MRD54
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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
30 November 2020
Disease Ontology ID
DOID:0080230
genetic association
CAMK2B
2 references
stated in
UniProt
UniProt protein ID
Q13554
retrieved
13 August 2019
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000058404/EFO_0009164
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_0080230
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080230
http://www.orpha.net/ORDO/Orphanet_178469
0 references
http://identifiers.org/doid/DOID:0080230
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0080230
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080230
Experimental Factor Ontology ID
0009164
1 reference
based on heuristic
inferred by common DOID mappings on source and on Wikidata
Mondo ID
MONDO_0030920
0 references
OMIM ID
617799
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080230
617799
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0030920
Orphanet ID
178469
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0030920
UMLS CUI
C4540484
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0030920
C5680502
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-05155
0 references
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