About: Macrocephaly-capillary malformation

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

disease

Attributes	Values
rdf:type	Item
owl:sameAs	Macrocephaly-capillary malformation
description	disease (en) Krankheit (de) malattia (it) хвороба (uk) http://amcme.es/ (es)
exact match	wds:Q17162578-26CE45BB-B15A-4940-81CE-5FAA1E8E83A4
exact match	http://www.orpha.net/ORDO/Orphanet_60040
Mondo ID	wds:Q17162578-7CC99D66-1620-4387-A051-157EE6875402
DiseasesDB	wds:Q17162578-B5257090-C25F-420B-BE7F-EE387C95B70A
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011240
Mondo ID	MONDO_0011240
DiseasesDB	34862
rdfs:label	Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom (de) Macrocephaly-capillary malformation (en) Síndrome de macrocefalia-malformación capilar (es) macrocéphalie - malformation capillaire (fr) Makrocefalia połączona z malformacjami kapilarnymi (pl) ضخامة الرأس وتشوه الشعيرات الدموية (ar)
skos:prefLabel	Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom (de) Macrocephaly-capillary malformation (en) Síndrome de macrocefalia-malformación capilar (es) macrocéphalie - malformation capillaire (fr) Makrocefalia połączona z malformacjami kapilarnymi (pl) ضخامة الرأس وتشوه الشعيرات الدموية (ar)
name	Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom (de) Macrocephaly-capillary malformation (en) Síndrome de macrocefalia-malformación capilar (es) macrocéphalie - malformation capillaire (fr) Makrocefalia połączona z malformacjami kapilarnymi (pl) ضخامة الرأس وتشوه الشعيرات الدموية (ar)
instance of	wds:Q17162578-56DAC4FD-45F3-46F2-8BA3-5FB255D06004 wds:Q17162578-996C9F93-3ABD-45B0-8478-56D9C9E036E9
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q17162578-188CE6C1-4A86-4773-B620-3BF7A86FAC56 wds:Q17162578-6BA0D7E4-8E02-487F-9B8A-AA8F50B6C071 wds:Q17162578-7D0D532F-2305-4AE0-BD3C-5912975444DA wds:Q17162578-95348423-7382-48B7-A43D-06C286A542E8 wds:Q17162578-98393797-45dd-68a8-cefc-5a4d8950744c wds:Q17162578-ab98a3d4-4a79-8705-d180-36aa6e3fb2d9 wds:Q17162578-caf9c980-4765-21e1-728c-851758fdf177
subclass of	overgrowth syndrome PIK3CA-related overgrowth spectrum megalencephaly vascular skin disease genetic skin vascular disorder polymalformative genetic syndrome with increased risk of developing cancer rare capillary malformation with associated anomalies
KEGG ID	wds:Q17162578-751104F8-F30D-4083-810F-6751A6FF86EC
KEGG ID	http://www.kegg.jp/entry/H02153
KEGG ID	H02153
UniProt disease ID	wds:Q17162578-f5f1e922-422b-4ff0-074a-3623d688206f
Orphanet ID	wds:Q17162578-923ba685-4817-a990-c355-84f94c4d624b
ICD-9-CM	wds:Q17162578-2BB59173-D241-4840-8FCB-6FBABF40DC33
genetic association	wds:Q17162578-6EFC0ACA-C190-42E5-9AC7-0F6AEBFF4A1F
ICD-10-CM	wds:Q17162578-C928E159-1631-4221-93D4-373A657C17B6
PatientsLikeMe condition ID	wds:Q17162578-34e87a23-495f-98b1-9d4f-d42f7d5f46c3
GARD rare disease ID	wds:Q17162578-2A789C07-0B55-4AE6-89CE-CC4040666676
OMIM ID	wds:Q17162578-119b1701-4a2c-4971-75f0-ebce403f4993
UniProt disease ID	DI-03624
Orphanet ID	60040
ICD-9-CM	759.89
genetic association	PIK3CA
ICD-10-CM	Q87.3
PatientsLikeMe condition ID	macrocephaly-capillary-malformation
GARD rare disease ID	6950
OMIM ID	602501
skos:altLabel	MCM (en) MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (en) Macrocephaly-Cutis Marmorata Telangiectatica Congenita (en) M-CM (en) MCAP (en) MCMTC (en) Macrocephaly-Capillary Malformation (en) Macrocephaly-capillary malformation syndrome (en) Megalencephaly-capillary malformation syndrome (en) Sindrome de macrocefalia-malformacion capilar (es) Megalencephaly-cutis marmorata telangiectatica congenita syndrome (en) MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP (en) Megalencephaly-Cutis Marmorata Telangiectatica Congenita (en) Macrocephaly-cutis marmorata telangiectatica congenita syndrome (en)
UMLS CUI	wds:Q17162578-257B080A-4136-4699-94A8-94EBFB688F1E
MeSH descriptor ID	wds:Q17162578-0F2B068F-AAFF-4DDF-B6A1-31D6B7F400F3
Microsoft Academic ID	wds:Q17162578-D3AAD3CC-1F30-47AA-AF8E-9A668DF172E9
ICD-11 (foundation)	wds:Q17162578-582672C5-0336-451D-9266-0D23B1BE4880
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536142
Microsoft Academic ID	https://makg.org/entity/2779885887
UMLS CUI	C1865285
MeSH descriptor ID	C536142
Microsoft Academic ID	2779885887
ICD-11 (foundation)	1394629828
is about of	Macrocephaly-capillary malformation https://pl.wikipedia.org/wiki/Makrocefalia_po%C5%82%C4%85czona_z_malformacjami_kapilarnymi https://www.wikidata.org/wiki/Special:EntityData/Q17162578 Macrocephaly-capillary malformation https://de.wikipedia.org/wiki/Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom https://fr.wikipedia.org/wiki/Macroc%C3%A9phalie_-_malformation_capillaire https://ar.wikipedia.org/wiki/%D8%B6%D8%AE%D8%A7%D9%85%D8%A9_%D8%A7%D9%84%D8%B1%D8%A3%D8%B3_%D9%88%D8%AA%D8%B4%D9%88%D9%87_%D8%A7%D9%84%D8%B4%D8%B9%D9%8A%D8%B1%D8%A7%D8%AA_%D8%A7%D9%84%D8%AF%D9%85%D9%88%D9%8A%D8%A9

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