|
rdfs:label
|
"Bloom sendromu"@tr
"Bloom syndrome"@en
"Bloom syndrome"@en-ca
"Bloom syndrome"@en-gb
"Bloom-Syndrom"@de
"Bloom-Syndrom"@de-ch
"Bloomin oireyhtymä"@fi
"Bloomov sindrom"@bs
"Bloomov sindrom"@sl
"Bloomův syndrom"@cs
"Blumov sindrom"@sr-el
"Syndroom van Bloom"@nl
"Síndrome de Bloom"@pt-br
"YT Cannon"@es
"Zespół Blooma"@pl
"sindrome di Bloom"@it
"sindromo de Bloom"@eo
"siondróm Bloom"@ga
"syndrome de Bloom"@fr
"síndrome de Bloom"@ca
"síndrome de bloom"@pt
"Блумов синдром"@sh
"Блумов синдром"@sr
"Блумов синдром"@sr-ec
"Синдром Блума"@ru
"сындром Блюма"@be-tarask
"תסמונת בלום"@he
"سندروم بلوم"@fa
"متلازمة بلوم"@ar
"ব্লুম সিন্ড্রোম"@bn
"ブルーム症候群"@ja
"布卢姆综合症"@zh
"布卢姆综合症"@zh-hans
"布盧姆症候群"@zh-hk
"布盧姆綜合症"@zh-hant
|
|
skos:altLabel
|
"BLM"@en
"BLM"@cs
"BLS"@en
"BLS"@cs
"BSyn"@en
"Bloom syndrome"@sr
"Bloom-Torre-Machacek syndrome"@en
"Bloomin syndrooma"@fi
"Bloom–Torre–Machacekoom-Torre-Machacek syndrome"@en
"Bs"@en
"Congenital Telangiectatic Erythema"@en
"Congenital Telangiectatic Erythema syndrome"@en
"Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability"@en
"Sindrome de Bloom-Torre-Machacek"@es
"Síndrome de Bloom-Torre-Machacek"@es
"布卢姆综合征"@zh
|
|
schema:description
|
"genetika malsano"@eo
"maladie"@fr
"malattia"@it
"rare genetic disorder with short strature and predisposition to cancer"@en
"sehr seltene Erbkrankheit aus der Gruppe der so genannten Chromosomenbruchsyndrome"@de
"הפרעה תורשתית"@he
|
|
schema:dateModified
|
"2026-10-23T23:21:46+00:00"^^xsd:dateTime
|
|
schema:version
|
2560153281
|
|
wikibase:identifiers
|
25
|
|
28
|
|
wikibase:sitelinks
|
20
|
|
wikibase:statements
|
60
|
|
p:P10283
|
wd:statement/Q1469646-83E90314-AB95-45DE-923E-DCEC68471D9E
|
|
p:P11143
|
wd:statement/Q1469646-4CA2B0E6-E004-47D7-A538-B5343780EE62
|
|
p:P11430
|
wd:statement/Q1469646-1e078d76-436f-5f25-81f0-1560bdbbbb4a
|
|
p:P1193
|
wd:statement/Q1469646-25FA9850-A36C-4000-A4EA-2240F507F01B
|
|
p:P1199
|
wd:statement/Q1469646-286f8739-4210-7491-87db-38e60e685432
|
|
p:P14914
|
wd:statement/Q1469646-C3DBA2EB-45A9-4EE0-9B03-9C47F872BD3A
|
|
p:P1550
|
wd:statement/Q1469646-05760448-609C-4DCC-85A2-75EEB5CE16BB
|
|
p:P1692
|
wd:statement/Q1469646-2C39F5B4-4DE3-472E-AF40-3C1F822D2F51
|
|
p:P1748
|
wd:statement/Q1469646-8D0C18A0-6BBE-4905-A3EF-D3C750A5344F
|
|
p:P18
|
wd:statement/Q1469646-78852DA4-4B9F-40D2-9720-01566FDF05D6
|
|
p:P1995
|
wd:statement/Q1469646-682B12F4-8B97-4175-8805-C95BB9687349
|
|
p:P2293
|
wd:statement/Q1469646-1695B4F7-FCAB-4371-AE85-CE0A4AF048B8
|
|
p:P279
|
wd:statement/Q1469646-3ACE7A2E-079E-4041-98BA-11212D026158
|
|
wd:statement/Q1469646-3F8ECFB6-5AF7-42AC-8520-9B740884F61F
|
|
wd:statement/Q1469646-51EEEB6B-3758-4939-A959-C1D365176DD3
|
|
wd:statement/Q1469646-700BF855-DEDF-4086-B63B-A35ACCCEFEBD
|
|
wd:statement/Q1469646-710FD5D2-296F-40DE-B7D3-B3FE99BBDEEF
|
|
wd:statement/Q1469646-7C77250D-F60E-4F00-8FC4-DE6EBF68EE71
|
|
wd:statement/Q1469646-A0F59045-6420-4ADB-AB55-86621D879306
|
|
wd:statement/Q1469646-B322E403-AEAB-4935-B711-FEB830C86679
|
|
wd:statement/Q1469646-BC001267-F9B3-4796-8F49-4D452ED427E2
|
|
wd:statement/Q1469646-BF24E0CF-6163-4810-A6A9-DD76D61305FB
|
|
wd:statement/Q1469646-DA4B8B1A-28B5-470F-BB2F-708CEFB80941
|
|
wd:statement/Q1469646-E0BD9D3A-EA93-4585-96FC-C8974347CA68
|
|
wd:statement/Q1469646-F3AEB863-1DF5-41FB-A566-888FA1827E34
|
|
p:P2841
|
wd:statement/Q1469646-C9C594CC-46FF-42F4-9135-F7D07ADB46B3
|
|
wd:statement/Q1469646-FD07F4EB-6737-4A19-BD43-B3E9207361E9
|
|
p:P2888
|
wd:statement/Q1469646-8A4C37B3-F33F-4A03-85FA-A42782683BDE
|
|
wd:statement/Q1469646-C787022C-8FF5-4DC9-A16D-D13A63D65317
|
|
wd:statement/Q1469646-CFA8D906-A2F0-4FDC-B551-0BFB6B2339B7
|
|
p:P2892
|
wd:statement/Q1469646-5A373F89-0C55-4B88-9059-A8C767B8E86F
|
|
p:P31
|
wd:statement/Q1469646-57BC9E42-53E8-463F-9C08-196450BBD8F0
|
|
wd:statement/Q1469646-DA119817-AE1E-4D72-B14F-DCAE78982343
|
|
p:P3471
|
wd:statement/Q1469646-FF9D9A09-2D25-4B23-93D1-93B7E24D3B32
|
|
p:P373
|
wd:statement/Q1469646-1cf4fd18-4002-1a16-b3e8-9a6dcafd5f8d
|
|
p:P3827
|
wd:statement/Q1469646-C4379CB8-23A2-4F31-AEDC-C9A6DC50E796
|
|
p:P4229
|
wd:statement/Q1469646-27F583CF-66D2-403C-BBFC-464FC4D7A3AD
|
|
p:P4317
|
wd:statement/Q1469646-F938A377-C610-4481-9DC6-81F7CA89A74A
|
|
p:P486
|
wd:statement/Q1469646-2B7FAC6E-F348-4C52-A62C-49F5158F127F
|
|
p:P492
|
wd:statement/Q1469646-529CFD2B-11FF-476C-B888-65858F66AA48
|
|
p:P493
|
wd:statement/q1469646-81C6A432-1316-4D8E-9054-A01FD1AF9150
|
|
p:P5008
|
wd:statement/Q1469646-0EA0B979-F0DD-4892-ADE8-BFB04A8EABCE
|
|
p:P5270
|
wd:statement/Q1469646-6905861C-51F1-41BB-B51C-CBF77FB95054
|
|
p:P557
|
wd:statement/q1469646-FF7A3CAA-C4FE-41B4-AEEC-39B121E8659C
|
|
p:P6366
|
wd:statement/Q1469646-F34569E9-1EC0-48A4-966A-B0A380C6C30A
|
|
p:P646
|
wd:statement/Q1469646-8377A691-B344-478A-86F6-40E1B8DE53ED
|
|
p:P6532
|
wd:statement/Q1469646-6B9C0BF4-8579-4856-AD16-713C333B3CDF
|
|
wd:statement/Q1469646-A28B6A4C-9AF8-4169-B4FE-A4087697DC10
|
|
wd:statement/Q1469646-B6F35D4C-DAE5-40B8-9760-B1422BC45BC4
|
|
wd:statement/Q1469646-EA3172DF-27E2-4B27-9679-970D64CDF92F
|
|
p:P665
|
wd:statement/Q1469646-E890987C-AAD7-4A0C-8054-C56D354D968F
|
|
p:P668
|
wd:statement/q1469646-5523BA02-F53D-4FF7-BFCA-507D52991056
|
|
p:P672
|
wd:statement/Q1469646-03d7120b-493f-17f2-d454-8c1e402efc65
|
|
wd:statement/Q1469646-24c9b841-48aa-dfef-37d3-f9aa45da4758
|
|
wd:statement/Q1469646-68863F35-D079-4922-9C3F-8C752151E9ED
|
|
wd:statement/Q1469646-8CDBA9B4-8B19-42B2-8538-85E27E788718
|
|
p:P673
|
wd:statement/q1469646-A57A5DC6-5A2B-40D7-A50E-28730CB061E7
|
|
p:P699
|
wd:statement/Q1469646-4698CE53-7CBE-433F-A0D3-4FB9EB3B7A82
|
|
p:P7464
|
wd:statement/Q1469646-FA0E8047-93CA-44BA-BF1F-AB6C2B2FFC97
|
|
p:P7807
|
wd:statement/Q1469646-05DE2296-9054-4310-A9C6-9629833A0C01
|
|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/D001816>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0008876>
|
|
p:direct-normalized/P6366
|
<https://makg.org/entity/2779013463>
|
|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H01346>
|
|
p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C16.131.077.137>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.798.313>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.284.100>
|
|
<http://id.nlm.nih.gov/mesh/C20.673.795.313>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:2717>
|
|
wdt:P10283
|
"C2779013463"
|
|
wdt:P11143
|
"Bloom syndrome"
|
|
wdt:P11430
|
"DI-00191"
|
|
wdt:P1193
|
0.000001^^xsd:decimal
|
|
wdt:P1199
|
autosomal recessive
|
|
wdt:P14914
|
"D00125"
|
|
wdt:P1550
|
"125"
|
|
wdt:P1692
|
"757.39"
|
|
wdt:P1748
|
"C2903"
|
|
wdt:P18
|
<http://commons.wikimedia.org/wiki/Special:FilePath/4cgz.png>
|
|
wdt:P1995
|
medical genetics
|
|
wdt:P2293
|
BLM
|
|
wdt:P279
|
autosomal recessive disease
|
|
syndrome
|
|
tumor of hematopoietic and lymphoid tissues
|
|
developmental anomaly of metabolic origin
|
|
malformation syndrome with short stature
|
|
genetic hematologic disease
|
|
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
|
|
polymalformative genetic syndrome with increased risk of developing cancer
|
|
inherited skin tumor
|
|
genetic photodermatosis
|
|
rare genetic developmental defect during embryogenesis
|
|
wdt:P2841
|
congenital onset
|
|
neonatal onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:2717>
|
|
<http://purl.obolibrary.org/obo/DOID_2717>
|
|
<http://www.orpha.net/ORDO/Orphanet_125>
|
|
wdt:P2892
|
"C0005859"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P3471
|
"4199"
|
|
wdt:P373
|
"Bloom's syndrome"
|
|
wdt:P3827
|
"bloom-syndrome"
|
|
wdt:P4229
|
"Q82.2"
|
|
wdt:P4317
|
"915"
|
|
wdt:P486
|
"D001816"
|
|
wdt:P492
|
"210900"
|
|
wdt:P493
|
"757.39"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0008876"
|
|
wdt:P557
|
"1505"
|
|
wdt:P6366
|
"2779013463"
|
|
wdt:P646
|
"/m/04hrr1"
|
|
wdt:P6532
|
mild intellectual disabilty
|
|
Infantile onset
|
|
Elevated hemoglobin A1c
|
|
type 2 diabetes
|
|
wdt:P665
|
"H01346"
|
|
wdt:P668
|
"NBK1398"
|
|
wdt:P672
|
"C16.131.077.137"
|
|
"C16.320.798.313"
|
|
"C18.452.284.100"
|
|
"C20.673.795.313"
|
|
wdt:P673
|
"1110271"
|
|
wdt:P699
|
"DOID:2717"
|
|
wdt:P7464
|
"bloom-syndrome"
|
|
wdt:P7807
|
"1838213890"
|
