SHMARQL

Myhre syndrome

<http://www.wikidata.org/entity/Q17042115>

medical condition
rdfs:label
"Myhre syndrome"@en
skos:altLabel
"Facial dysmorphism - intellectual deficit - short stature - hearing loss"@en
"Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome"@en
"Growth mental deficiency syndrome of Myhre"@en
"Growth-Mental Deficiency Syndrome of Myhre"@en
"LAPS syndrome"@en
"Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature"@en
"MYHRE SYNDROME"@en
"MYHRE SYNDROME; MYHRS"@en
"MYHRS"@en
schema:description
"medical condition"@en
schema:dateModified "2026-10-23T23:49:23+00:00"^^xsd:dateTime
schema:version 2560159291
wikibase:identifiers 12
14
wikibase:sitelinks 6
wikibase:statements 34
p:P11430 wd:statement/Q17042115-ecb1ad69-4fdd-a1ee-36c8-e2c5bd3ec442
p:P1193 wd:statement/Q17042115-A0E39275-FC79-4C04-8184-24F7CD3AA28E
p:P14914 wd:statement/Q17042115-5984752F-6D64-4D85-95BC-9958AF488BA0
p:P1550 wd:statement/Q17042115-47e0fe9b-48fb-a6d1-ba44-a16dd7bf5924
p:P1692 wd:statement/Q17042115-1F6FB303-1E58-488B-AC72-AC4B722E6C0C
p:P1748 wd:statement/Q17042115-cd1eac66-4c8c-19fd-c524-35b6a2f10817
p:P2293 wd:statement/Q17042115-C8927E68-2BCF-41E0-B048-C89144627AB8
p:P279 wd:statement/Q17042115-480F3246-A5ED-460E-B99A-9066BE2CFC68
wd:statement/Q17042115-9338998E-2EEB-402D-B643-1D4FEF50896A
wd:statement/Q17042115-9F7A6B3C-4EB9-4FB3-9D7C-B1065BC9EB19
wd:statement/Q17042115-C2893C9F-05B6-4808-BA00-CA2BA9BD2F34
wd:statement/Q17042115-c6753667-4ce7-babe-2a88-eeec512823a7
wd:statement/Q17042115-de91479f-4831-67b1-7711-722b4ee5b5a2
p:P2841 wd:statement/Q17042115-29EF58DD-1C13-4DB3-B361-5880C12211B6
wd:statement/Q17042115-AAFE4CE9-46FB-40E4-BBB5-6A7EC2D6B616
wd:statement/Q17042115-F737DF7E-92CD-4F69-8D05-C6296ADB954C
p:P2888 wd:statement/Q17042115-F7536539-B2E6-488A-A1ED-74FA5779881F
p:P2892 wd:statement/Q17042115-80db63cc-42c1-1b78-05ed-176f31f95250
p:P31 wd:statement/Q17042115-890D4ABB-CB7E-4A2B-8D95-7BF8A43E9E79
wd:statement/Q17042115-CD509F14-9D16-4286-ADCB-D42B93FD97EF
p:P4229 wd:statement/Q17042115-4F5B4953-3807-40E7-8014-073435513FE6
p:P4317 wd:statement/Q17042115-AAA7CD11-6297-4885-9FF7-A147F5D609CE
p:P486 wd:statement/Q17042115-CE77EDB4-091C-4C09-9A4F-9424DC5BF446
p:P492 wd:statement/Q17042115-5553d211-4102-02f9-8513-a3992a722262
p:P5270 wd:statement/Q17042115-8948C6D7-B551-457C-92CC-79E6098A19D5
p:P5806 wd:statement/Q17042115-474168E0-D8A3-4683-837F-71CB888FB2DD
p:P6366 wd:statement/Q17042115-583A8EC8-5139-457A-BC24-5DB746C316BD
p:P6532 wd:statement/Q17042115-4A0BDC0C-8A6E-442C-B7E8-4C9754962B7B
wd:statement/Q17042115-79A69855-31F4-47EB-B5C6-F351F3D4EC9E
wd:statement/Q17042115-8B49D47A-36EC-4081-870D-B9B244E3E1ED
wd:statement/Q17042115-F9D56B48-C739-4171-BB47-A607D9E5E706
wd:statement/Q17042115-FD8A8081-C2DB-4E9F-9117-AE5BE23B6991
p:P665 wd:statement/Q17042115-9E5FFD65-84AC-4C86-85FC-387A53F25A77
p:P7464 wd:statement/Q17042115-2BDB2821-2B84-4FEE-AC8D-BF0C1F46A39E
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C537620>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0007688>
p:direct-normalized/P5806 <http://snomed.info/id/699316006>
p:direct-normalized/P6366 <https://makg.org/entity/2780334831>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H02102>
wdt:P11430 "DI-03349"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D02588"
wdt:P1550 "2588"
wdt:P1692 "759.89"
wdt:P1748 "C123815"
wdt:P2293 SMAD4
wdt:P279 multiple congenital anomalies/dysmorphic syndrome-intellectual disability
genetic syndromic intellectual disability
wdt:P2841 congenital onset
neonatal onset
infantile onset
wdt:P2888 <http://www.orpha.net/ORDO/Orphanet_2588>
wdt:P2892 "C0796081"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q87.8"
wdt:P4317 "2572"
wdt:P486 "C537620"
wdt:P492 "139210"
wdt:P5270 "MONDO_0007688"
wdt:P5806 "699316006"
wdt:P6366 "2780334831"
wdt:P6532 cerebellar ataxia
microphthalmia
childhood onset
lumbar lordosis
respiratory failure
wdt:P665 "H02102"
wdt:P7464 "myhre-syndrome"
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data from SPARQL profile: Wikidata