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About:
Macrocephaly-capillary malformation
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New Facet based on Instances of this Class
disease
Attributes
Values
rdf:type
Item
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
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
https://es.wikipedia.org/wiki/S%C3%ADndrome_de_macrocefalia-malformaci%C3%B3n_capilar
is
main subject
of
Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria.
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