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(Q53660475)
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English
autosomal dominant mental retardation 55
human disease
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55
MRD55
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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
15 May 2019
Disease Ontology ID
DOID:0080227
syndromic intellectual disability
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0080227
genetic association
NUS1
1 reference
stated in
UniProt
UniProt protein ID
Q96E22
retrieved
13 August 2019
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0080227
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080227
http://www.orpha.net/ORDO/Orphanet_442835
0 references
Identifiers
Disease Ontology ID
DOID:0080227
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080227
Mondo ID
MONDO_0030921
0 references
OMIM ID
617831
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080227
617831
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0030921
Orphanet ID
442835
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0030921
UniProt disease ID
DI-05178
0 references
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