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(Q53660472)
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English
autosomal dominant mental retardation 56
human disease
MRD56
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56
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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 disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080226
syndromic intellectual disability
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080226
genetic association
CLTC
2 references
stated in
UniProt
UniProt protein ID
Q00610
retrieved
13 August 2019
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000141367/MONDO_0030922
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_0080226
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080226
http://www.orpha.net/ORDO/Orphanet_178469
0 references
http://www.orpha.net/ORDO/Orphanet_442835
0 references
http://identifiers.org/doid/DOID:0080226
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0080226
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080226
Mondo ID
MONDO_0030922
0 references
OMIM ID
617854
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080226
617854
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0030922
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_0030922
442835
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0030922
UniProt disease ID
DI-05186
0 references
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