About: CLAPO syndrome

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About: CLAPO syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

syndrome consisting of multiple malformations and overgrowth

Attributes	Values
rdf:type	Item
description	syndrome consisting of multiple malformations and overgrowth (en)
exact match	wds:Q55783961-84834431-E94F-40D0-999C-37DA57947EBD
exact match	http://www.orpha.net/ORDO/Orphanet_168984
Mondo ID	wds:Q55783961-21749916-874D-4DE4-81C4-F254A6692E38
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013125
Mondo ID	MONDO_0013125
rdfs:label	CLAPO syndrome (en) syndrome CLAPO (fr)
skos:prefLabel	CLAPO syndrome (en) syndrome CLAPO (fr)
name	CLAPO syndrome (en) syndrome CLAPO (fr)
instance of	wds:Q55783961-5D58EE64-09A3-4B76-8C57-58A257CE80A4 wds:Q55783961-EE4E266D-9248-4261-AE3A-B88B264CF419
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55783961-6AA34049-397D-4B79-9712-D0AE64AB480D wds:Q55783961-77E71686-9BA4-4B10-AE89-3671372FD311 wds:Q55783961-9CEAF0C8-45F8-4A57-9F44-167251DAE9C3
subclass of	overgrowth syndrome genetic vascular anomaly complex vascular malformation with associated anomalies
KEGG ID	wds:Q55783961-2A07BD4D-143E-4B73-A736-165E1EE45B0B
KEGG ID	http://www.kegg.jp/entry/H02297
KEGG ID	H02297
UniProt disease ID	wds:Q55783961-f75c3466-4f17-52ba-8da7-11a84082e661
Orphanet ID	wds:Q55783961-31596753-FE33-49EF-8631-4F0634A72B7D
genetic association	wds:Q55783961-1B5EA794-7ED8-44F8-BEF4-1E61E6AFADFC
ICD-10-CM	wds:Q55783961-DBF1CD76-03C1-4CE1-B52E-6846A1F2B34E
OMIM ID	wds:Q55783961-0C5D5B57-EF9F-4891-9105-AFED0D6778C5
UniProt disease ID	DI-05367
Orphanet ID	168984
genetic association	PIK3CA
ICD-10-CM	Q87.3
OMIM ID	613089
skos:altLabel	Clapo (en) Lopez-Gutierrez Syndrome (en) CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH (en)
UMLS CUI	wds:Q55783961-3C4B4F6D-4906-4200-B4E6-A52A47DE83C1
MeSH descriptor ID	wds:Q55783961-AE43E75F-5FF6-474B-BFC3-3448FA819AF8
ICD-11 (foundation)	wds:Q55783961-90366802-E9E1-4400-86C8-F3AE1AB82BB7
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C567763
UMLS CUI	C2751313
MeSH descriptor ID	C567763
ICD-11 (foundation)	415642712
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783961
is main subject of	CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. CLAPO syndrome: case report CLAPO syndrome: Effective response to treatment with oral rapamycin CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
is main subject of	wds:Q87414475-E4F6FECB-F975-4F88-8D30-8545835B8AE4 wds:Q92577639-9F3353E3-9EFE-4454-A1E4-A547981B8A49 wds:Q63987384-D6F743DB-187B-417A-BEC0-1D729C95D315 wds:Q49985603-CE75609B-C1C4-46D8-A5A8-4B3420FA2174
is genetic association of	PIK3CA
is genetic association of	wds:Q14887700-929A6744-2EDC-4FF6-B1EE-9272F881ABFB

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