SHMARQL

macrocephaly-autism syndrome

<http://www.wikidata.org/entity/Q32136586>

human disease
rdfs:label
"macrocephaly-autism syndrome"@en
skos:altLabel "MACROCEPHALY/AUTISM SYNDROME"@en
"macrocephaly-intellectual disability-autism syndrome"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-23T23:38:10+00:00"^^xsd:dateTime
schema:version 2560156839
wikibase:identifiers 9
wikibase:sitelinks 0
wikibase:statements 41
p:P11430 wd:statement/Q32136586-e67b37b7-4184-61a7-e921-1e7f5a5afb25
p:P1193 wd:statement/Q32136586-6AB2FD12-9AA7-487B-AAEF-DEF114A6B959
p:P14914 wd:statement/Q32136586-89D72863-BF11-45DB-8455-2BD4BB60E169
p:P1550 wd:statement/Q32136586-3E3BEC4B-1773-4A31-9004-F6585D3C3E8A
p:P2293 wd:statement/Q32136586-11738598-1B52-4552-8A15-AA6DBCC59074
wd:statement/Q32136586-561108BA-AE41-448D-A11E-37C34813D51E
p:P279 wd:statement/Q32136586-5221D376-B651-43B0-BEA7-A61625105449
wd:statement/Q32136586-98F63DC9-E140-47FC-8574-1D40B6282166
wd:statement/Q32136586-D3368659-AA52-4485-AEFA-EFEF459C3840
wd:statement/Q32136586-E5D28BCE-74D0-4E4B-91A5-6BA627454112
wd:statement/Q32136586-F2DF9267-CF1D-49C4-91B3-82D9E4EBCEE6
p:P2841 wd:statement/Q32136586-7D82E20B-AAAF-42D3-AE83-EE163369C71C
wd:statement/Q32136586-94883873-9E09-45AD-A608-87345B195760
p:P2888 wd:statement/Q32136586-3C0A6378-EBBF-485A-A138-04E30F32F381
wd:statement/Q32136586-F8ED0A15-1C80-432B-94E2-141E55F147B1
p:P2892 wd:statement/Q32136586-B49B8151-844B-4BC0-BA3D-6CDB9E312123
wd:statement/Q32136586-E72CBA04-3E64-41F0-9228-F6D254B3E3D9
p:P31 wd:statement/Q32136586-485283F7-5B8E-41FB-A0FB-2E73EC164F76
wd:statement/Q32136586-F841F9DC-E521-43CB-8260-EAEE27C74A2B
p:P486 wd:statement/Q32136586-00948E96-92AB-4216-8151-B6260F5A17C1
p:P492 wd:statement/Q32136586-78F7EE24-4DBA-408E-9ACB-ED280713AB50
p:P5008 wd:statement/Q32136586-A5561D46-5B6C-465F-AFF9-69B535E0C6CE
p:P5270 wd:statement/Q32136586-400C0F52-0AC2-436A-8214-5F4CE3146CB9
p:P6532 wd:statement/Q32136586-0B1B1C93-FAB5-47D3-A7A6-35B563D0D83C
wd:statement/Q32136586-0D364197-3778-45B0-B8A0-FB9CA58975D5
wd:statement/Q32136586-0E55813A-64DD-4500-900E-BCA674078768
wd:statement/Q32136586-40AD5D97-7D38-4A3A-928B-95DB1BA6CD76
wd:statement/Q32136586-4668FFD5-98AA-4534-992F-6BD825F47988
wd:statement/Q32136586-5F37BA30-B694-4D35-8867-B4CB23013151
wd:statement/Q32136586-61F93F15-70F5-49E4-B51A-B0644E18116F
wd:statement/Q32136586-63CD37D5-84FB-4B7D-88EE-F8AF785F94A3
wd:statement/Q32136586-6BCD5219-7A3F-4557-A6BA-4B79B4F27F39
wd:statement/Q32136586-6D1FD153-704D-4473-9EED-8CF3FE9845DF
wd:statement/Q32136586-7CC325EE-571D-4C34-82A3-F2A821466CD8
wd:statement/Q32136586-98097E30-CEEB-4139-8B19-7678E6524C2A
wd:statement/Q32136586-AC0BF903-504C-4B77-B5E3-13D5735CEDAD
wd:statement/Q32136586-C3323D18-0B42-45A3-AEB4-F8D0262F0289
wd:statement/Q32136586-D4C69117-7750-4D8C-95B8-A69F44E80DAE
wd:statement/Q32136586-DCEB25C6-85E9-4F61-BF26-B9839D156F48
wd:statement/Q32136586-E152C43E-459B-4946-8653-1F4292208E95
p:P699 wd:statement/Q32136586-5EDAD710-23D9-4706-AB66-58A7E2241F57
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C565342>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0011537>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0060867>
wdt:P11430 "DI-01924"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D210548"
wdt:P1550 "210548"
wdt:P2293 PTEN
HEPACAM
wdt:P279 autosomal dominant disease
rare disease with autism
rare genetic developmental defect during embryogenesis
other syndrome with a central nervous system malformation as major feature
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:0060867>
<http://purl.obolibrary.org/obo/DOID_0060867>
wdt:P2892 "C1854416"
"C5190809"
wdt:P31 type of disease
rare disease
wdt:P486 "C565342"
wdt:P492 "605309"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0011537"
wdt:P6532 motor delay
Polymetatarsia
Numerous nevi
Cronkhite-Canada syndrome
autism spectrum disorder
hypertelorism
attention deficit hyperactivity disorder
thyroid carcinoma
thyroid Hurthle cell adenoma
disability affecting intellectual abilities
lymphopenia
polydactyly of a biphalangeal thumb
fatty liver disease
seizure
macrocephaly
skull bossing
café au lait spot
wdt:P699 "DOID:0060867"
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