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Carpenter syndrome
(Q2272470)
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From Wikidata
acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly
acrocephalopolysyndactyly type II
Acrocephalopolysyndactyly type 2
ACPS2
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Language
Label
Description
Also known as
default for all languages
No label defined
–
English
Carpenter syndrome
acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly
acrocephalopolysyndactyly type II
Acrocephalopolysyndactyly type 2
ACPS2
Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
acrocephalosyndactylia
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0060234
health specialty
medical genetics
0 references
genetic association
RAB23
2 references
stated in
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000112210/MONDO_0019012
based on heuristic
inferred from an Open Targets association score over 0.7
MEGF8
2 references
stated in
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000105429/MONDO_0019012
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
ICPC 2 ID
A90
1 reference
imported from Wikimedia project
Spanish Wikipedia
NCI Thesaurus ID
C98873
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060234
C98873
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019012
exact match
http://purl.obolibrary.org/obo/DOID_0060234
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060234
http://identifiers.org/doid/DOID:0060234
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233
http://www.orpha.net/ORDO/Orphanet_65759
0 references
Commons category
Carpenter syndrome
0 references
Identifiers
MeSH descriptor ID
C563187
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060234
C563187
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019012
KEGG ID
H01888
0 references
Disease Ontology ID
DOID:0060234
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060234
DiseasesDB
29583
1 reference
imported from Wikimedia project
English Wikipedia
Freebase ID
/m/086ytv
1 reference
stated in
Freebase Data Dumps
publication date
28 October 2013
GARD rare disease ID
6003
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060234
Genetics Home Reference Conditions ID
carpenter-syndrome
0 references
ICD-10-CM
Q87.0
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019012
Microsoft Academic ID
2777573950
0 references
Mondo ID
MONDO_0019012
0 references
OMIM ID
201000
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060234
614976
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060234
Orphanet ID
65759
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060234
65759
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019012
SNOMED CT ID
205813009
1 reference
imported from Wikimedia project
English Wikipedia
Wikimedia import URL
https://en.wikipedia.org/w/index.php?title=Carpenter_syndrome&oldid=948319172
UMLS CUI
C1275078
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060234
C1275078
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019012
WikiProjectMed ID
Carpenter syndrome
0 references
Sitelinks
Wikipedia
(10 entries)
edit
arwiki
متلازمة كاربنتر
bswiki
Carpenterov sindrom
dewiki
Carpenter-Syndrom
enwiki
Carpenter syndrome
eswiki
Síndrome de Carpenter
fiwiki
Carpenterin oireyhtymä
hewiki
תסמונת קרפנטר
itwiki
Sindrome di Carpenter
nlwiki
Syndroom van Carpenter
plwiki
Zespół Carpentera
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
edit
Multilingual sites
(1 entry)
edit
commonswiki
Category:Carpenter syndrome
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