SHMARQL

Holt-Oram syndrome

<http://www.wikidata.org/entity/Q182005>

autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.
rdfs:label
"Holt-Oram syndrome"@en
skos:altLabel
"HOLT-ORAM SYNDROME"@en
"HOLT-ORAM SYNDROME; HOS"@en
"HOS"@en
"Heart-hand syndrome type 1"@en
"Holt–Oram syndrome"@en
"Hos1"@en
"atrio-digital syndrome"@en
"atrio-digital syndrome type 1"@en
"atriodigital dysplasia"@en
"atriodigital dysplasia type 1"@en
"heart-hand syndrome"@en
schema:description
"autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb."@en
schema:dateModified "2026-10-24T00:14:23+00:00"^^xsd:dateTime
schema:version 2560163811
wikibase:identifiers 20
23
wikibase:sitelinks 13
wikibase:statements 47
p:P11143 wd:statement/Q182005-A7ADA3DD-9217-44FC-A81F-D4C59C883AA4
p:P11430 wd:statement/Q182005-80f31683-4207-fe35-31d8-da94314340f5
p:P13772 wd:statement/Q182005-FFE8F5F8-FAFF-4D01-AFDB-A6424E8695C8
p:P138 wd:statement/Q182005-07c5a668-48c8-cc5b-1ffa-f229b6ee83ea
wd:statement/Q182005-740af756-4d17-fbf6-a669-f8e5c7fc838a
p:P14914 wd:statement/Q182005-D9E7E78F-6434-4A6B-90B9-9643E0433B0F
p:P1550 wd:statement/Q182005-51D8B9C4-0CC0-4272-91F6-89CF4C3D5E47
p:P1692 wd:statement/Q182005-BC5B3753-26EA-47EC-9DD0-1A8DF7F6BF1E
p:P1748 wd:statement/Q182005-88300386-35ED-4B1C-90C4-E709EC4E345E
p:P1995 wd:statement/Q182005-584FACE7-7D28-4E06-8605-D6C2B6011E48
p:P2293 wd:statement/Q182005-CCED21AC-793D-40EB-AEC1-82334E085977
p:P279 wd:statement/Q182005-09D997E0-A985-43BF-B814-494DB7FFBB79
wd:statement/Q182005-2C65B094-FC48-44A5-9A3E-A24E459775CC
wd:statement/Q182005-44DB215D-C9E3-4D93-A156-6507304EC454
wd:statement/Q182005-50E592B8-6F05-444D-9913-A1F20A60D8B4
wd:statement/Q182005-5139A0F3-459A-40E1-A028-D089FCFDE5A4
wd:statement/Q182005-86266e19-40c4-61b2-d780-9f02e76b204d
p:P2841 wd:statement/Q182005-3C0B16BE-BC5B-4DCC-84E6-B707094F2A20
wd:statement/Q182005-7E3BFCF0-0231-4D9E-BD41-92477ED7F486
p:P2888 wd:statement/Q182005-17ED1B47-7B3D-46CE-9B19-C417ABBF58A6
wd:statement/Q182005-50104A33-152D-4CA7-8E85-9BAF8087EC48
wd:statement/Q182005-D0107E8D-2DD2-4ED5-9D08-181A58F3B441
p:P2892 wd:statement/Q182005-EE6711DA-E8F4-41B9-A940-3E6D0DC1751A
p:P31 wd:statement/Q182005-692DD811-BF49-4C34-B318-C9FC3BB13BAE
wd:statement/Q182005-6A32D264-C2A7-4C92-85A9-09C35B985668
p:P4229 wd:statement/Q182005-5AAE68CE-23C9-4D54-9A9A-D6CF9C2050DD
p:P4233 wd:statement/Q182005-95ac8784-4cda-91f8-6a90-691d22da9c38
p:P4317 wd:statement/Q182005-E41C7D4D-2109-462B-AA13-85D5794F6AB6
p:P486 wd:statement/Q182005-1FF58672-7AC4-4BA5-94C1-660012CE6138
p:P492 wd:statement/Q182005-FA4CCFF6-D7DA-4E28-BE69-42B4FEF94F9B
p:P5008 wd:statement/Q182005-6F31713F-D574-48F7-A7C0-4BB2B630420A
p:P5270 wd:statement/Q182005-209E3220-2332-479A-A4AE-83B17CE000FF
p:P557 wd:statement/q182005-4D7BA2F8-27A6-43CD-BF32-60DB3CCED56B
p:P5806 wd:statement/Q182005-AE3C1EF1-CB13-452D-A55A-2B7ACB70C72E
p:P6366 wd:statement/Q182005-361B97B7-14AC-486B-93EF-4D210F1543CB
wd:statement/Q182005-9FF7F798-2A0F-4B4D-995E-323B341C97B9
p:P646 wd:statement/Q182005-A695B587-63E9-4B85-BCE3-BE7312523574
p:P6532 wd:statement/Q182005-18A5C33D-68C7-4087-866E-71E53B728172
wd:statement/Q182005-30DC338C-DD77-455E-8598-8A45847FBBB4
wd:statement/Q182005-7104DEC9-71C3-417E-96A6-3A43A18A6C1C
wd:statement/Q182005-AA9C0E61-271E-48C6-9AD7-2CB7CAD699F4
wd:statement/Q182005-F9039ADB-7201-491E-8FB5-8360BD1BB3CB
p:P665 wd:statement/Q182005-6AEAC152-8A56-44C0-8ACB-538FDAE9EA87
p:P668 wd:statement/q182005-DA91ADFD-E2C8-4DA9-BD32-EF2D11DF515E
p:P673 wd:statement/Q182005-79BC890A-DE93-4B77-A8A7-D1CBB929B1F5
wd:statement/q182005-CEB29BE6-7D6F-4BCC-A658-7306B2229827
p:P699 wd:statement/Q182005-BCEC8634-E249-4228-851F-18942E92BB2A
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C535326>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0007732>
p:direct-normalized/P5806 <http://snomed.info/id/205814003>
p:direct-normalized/P6366 <https://makg.org/entity/2778830980>
<https://makg.org/entity/2908925816>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00433>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0060468>
wdt:P11143 "Holt–Oram syndrome"
wdt:P11430 "DI-01752"
wdt:P13772 "holt-oram-syndrome"
wdt:P138 Samuel Oram
Mary Holt
wdt:P14914 "D00392"
wdt:P1550 "392"
wdt:P1692 "759.89"
wdt:P1748 "C125592"
wdt:P1995 medical genetics
wdt:P2293 TBX5
wdt:P279 atriodigital dysplasia
autosomal dominant disease
genetic cardiac rhythm disease
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare syndrome with cardiac malformations
wdt:P2841 congenital onset
neonatal onset
wdt:P2888 <http://identifiers.org/doid/DOID:0060468>
<http://purl.obolibrary.org/obo/DOID_0060468>
<http://www.orpha.net/ORDO/Orphanet_392>
wdt:P2892 "C0265264"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q87.2"
wdt:P4233 "holtoram-syndrome"
wdt:P4317 "6666"
wdt:P486 "C535326"
wdt:P492 "142900"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0007732"
wdt:P557 "5988"
wdt:P5806 "205814003"
wdt:P6366 "2778830980"
"2908925816"
wdt:P646 "/m/0dlqkh"
wdt:P6532 narrow chest
autosomal dominant
cleft soft palate
third-degree atrioventricular block
mitral valve prolapse
wdt:P665 "H00433"
wdt:P668 "NBK1111"
wdt:P673 "159911"
wdt:P699 "DOID:0060468"
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