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(Q56013710)
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English
17q11.2 microduplication syndrome
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
Grisart-Destrée syndrome
Grisart-DestrC)e syndrome
Trisomy 17q11.2
Dup(17)(q11.2)
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Statements
instance of
class of disease
0 references
subclass of
partial duplication of the long arm of chromosome 17
0 references
exact match
http://www.orpha.net/ORDO/Orphanet_139474
0 references
Identifiers
Google Knowledge Graph ID
/g/11fmf15lbx
0 references
ICD-10-CM
Q92.3
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0015350
Mondo ID
MONDO_0015350
0 references
Orphanet ID
139474
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0015350
UMLS CUI
C3150928
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0015350
C3495679
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
Sitelinks
Wikipedia
(1 entry)
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dewiki
Mikrodeletionssyndrom 17q11.2
Wikibooks
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Wikinews
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Wikiquote
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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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