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(Q21505487)
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English
chromosome 5p13 duplication syndrome
Human disease
5p13 microduplication syndrome
trisomy 5p13
CHROMOSOME 5p13 DUPLICATION SYNDROME
Dup(5)(p13)
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No label defined
No description defined
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013169
class of disease
0 references
subclass of
chromosomal duplication syndrome
1 reference
stated in
Disease Ontology
retrieved
27 November 2020
Disease Ontology ID
DOID:0060460
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013169
partial trisomy/tetrasomy of the short arm of chromosome 5
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013169
genetic syndromic intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013169
health specialty
medical genetics
0 references
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060460
1 reference
stated in
Disease Ontology
retrieved
27 November 2020
Disease Ontology ID
DOID:0060460
http://identifiers.org/doid/DOID:0060460
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_329802
0 references
Identifiers
MeSH descriptor ID
C567717
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013169
Disease Ontology ID
DOID:0060460
1 reference
stated in
Disease Ontology
retrieved
27 November 2020
Disease Ontology ID
DOID:0060460
ICD-10-CM
Q92.3
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060460
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013169
Mondo ID
MONDO_0013169
0 references
OMIM ID
613174
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060460
Orphanet ID
329802
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060460
UMLS CUI
C2750805
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013169
C4749507
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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