SHMARQL

Pendred syndrome

<http://www.wikidata.org/entity/Q1707822>

genetic disorder
rdfs:label
"Pendred syndrome"@en
skos:altLabel
"Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2B"@en
"PDS"@en
"PENDRED SYNDROME; PDS"@en
"Pendred Syndrome"@en
"TDH2B"@en
"Thyroid Hormonogenesis, Genetic Defect In, 2B"@en
"congenital hypothyroidism due to dyshormonogenesis 2B"@en
"deafness with goiter"@en
"genetic defect in thyroid hormonogenesis 2B"@en
"goiter-deafness syndrome"@en
"thyroid dyshormonogenesis 2B"@en
schema:description
"genetic disorder"@en
schema:dateModified "2026-10-24T00:31:46+00:00"^^xsd:dateTime
schema:version 2560166594
wikibase:identifiers 20
22
wikibase:sitelinks 14
wikibase:statements 55
p:P11143 wd:statement/Q1707822-6EA538FB-568E-4C9C-91E1-FFAAF4482485
p:P11430 wd:statement/Q1707822-d0a2af40-4a5d-55b6-fd44-14af2e5123fe
p:P1193 wd:statement/Q1707822-D2F9FC7F-794B-4E09-8C48-25AD04AB485B
p:P1417 wd:statement/Q1707822-EE212331-98D1-47B8-AE50-EB49BAE48838
p:P14914 wd:statement/Q1707822-CC537AA4-C121-4FA4-9195-10A574A6BC3F
p:P1550 wd:statement/Q1707822-0A0540A6-A09F-499B-A506-847CCADBFEDC
p:P1748 wd:statement/Q1707822-9DA3C5A6-7179-4AE4-AA66-F2AB26CB7777
p:P1995 wd:statement/Q1707822-B74107C3-6C66-4A54-82F3-1C2A843504D1
p:P2293 wd:statement/Q1707822-4C10B464-630A-4DFC-9A02-861BC8A5FD3F
wd:statement/Q1707822-6750EDD3-276F-497D-8F25-F47FB63D224F
wd:statement/Q1707822-A72C71A9-819E-4052-957C-5C3B2BC4507D
p:P279 wd:statement/Q1707822-0e14a816-444c-4f12-d9db-bdcda7f64089
wd:statement/Q1707822-5ACB69FC-4299-434A-85D9-5B64679B5A65
wd:statement/Q1707822-68F1C85C-BCBE-4B71-88E7-42589561DB29
wd:statement/Q1707822-7416a4d8-48bf-52d2-a084-60a6f6c080cb
wd:statement/Q1707822-CBE61EC2-B0AD-45B6-9158-C111085F020B
wd:statement/Q1707822-D4D9EA57-4A47-4F83-97EF-CAF7A24D2323
wd:statement/Q1707822-D9AD5A06-13E6-4C4C-92A2-AF731C05A506
wd:statement/Q1707822-F0395C22-31E0-486B-A25E-EB6D3517F38E
p:P2841 wd:statement/Q1707822-AD12A6E4-87F5-41FB-AAFD-9CBE2605B192
wd:statement/Q1707822-D9C00062-731C-4B64-99D4-D87DEEEDCEE6
p:P2888 wd:statement/Q1707822-2661217B-F98F-44F7-8077-D5C789CCE0E6
wd:statement/Q1707822-F562D669-43E5-48B9-8D2C-F933733BEDA3
wd:statement/Q1707822-FFE2219A-20EC-4B6C-A88E-09196BD979C8
p:P2892 wd:statement/Q1707822-6AF9C599-CC29-4735-BDDF-7E5785AAC1C4
p:P31 wd:statement/Q1707822-85CA506E-0FFB-48DE-AE1F-689B5C868CA4
wd:statement/Q1707822-D034F9B5-8414-4021-8C48-34FD2074C838
p:P4229 wd:statement/Q1707822-CC842595-DA23-46C8-920E-C1BA8073D62D
p:P4317 wd:statement/Q1707822-9EC8C34D-2A90-4F42-A67F-0EDBB75DC8F4
p:P486 wd:statement/Q1707822-5A9D14D8-96A8-4BA3-9875-D0C1CF80C9E4
p:P492 wd:statement/Q1707822-6F2E5120-C2F2-4333-9940-EFD84B4F0C14
p:P5008 wd:statement/Q1707822-2C15E2AD-2831-4983-8565-A0942AB98755
p:P5270 wd:statement/Q1707822-6F616ABB-B1D4-4FDA-8B07-31634238788F
p:P557 wd:statement/q1707822-D197CC7B-E4DE-4960-AC47-350331E55873
p:P5806 wd:statement/Q1707822-37487728-34CB-488B-9990-1C4755A2E2F2
p:P6366 wd:statement/Q1707822-18AFCF4C-B963-4B29-A404-AA4E7FCCC95E
wd:statement/Q1707822-F8D5767A-CAAC-4F93-8970-ABFCC7E7B223
p:P646 wd:statement/Q1707822-33513841-CE34-4A49-B78A-78145522D10C
p:P6532 wd:statement/Q1707822-1B4C3B3C-DE59-4B6B-B5D8-DAE80EA17149
wd:statement/Q1707822-1DB66E46-1723-45CC-B7D2-7597BC4AD071
wd:statement/Q1707822-21A70886-F8F9-4F02-B5BF-A3DC3FCC0FA7
wd:statement/Q1707822-25A970EB-321D-4BBF-81C9-74A776DE4BF6
wd:statement/Q1707822-48A575E1-B76A-4C3D-9710-E0FBAD4D9717
wd:statement/Q1707822-59FAA876-79C8-4517-9A73-9F4A2A1F2A95
wd:statement/Q1707822-61B9A4A1-7D8E-4A2C-BD82-5B40545C6037
wd:statement/Q1707822-723B4091-8478-495E-AFF7-399548DA2D8F
wd:statement/Q1707822-7AACA69C-26DE-4CCF-99CD-A46BC43408F6
wd:statement/Q1707822-B3203213-BBA1-4A45-A3A5-349107C21CF0
wd:statement/Q1707822-C5565090-2CA0-4A5A-9043-726ADF6C8F1A
wd:statement/Q1707822-EE27BA49-0BC7-4B94-AC18-EBE144B1F7B2
p:P668 wd:statement/q1707822-015D8AAB-182A-4686-8FC5-EC378E8B92E7
p:P699 wd:statement/Q1707822-1E3817F3-6E7C-4E90-8CFE-8921FDF132FE
p:P7329 wd:statement/Q1707822-4F2A80F8-5EA9-464C-86E7-FA69C853BC8A
p:P7464 wd:statement/Q1707822-D6B436D1-D1B2-48B9-8117-70CC0CE897B1
p:P7807 wd:statement/Q1707822-6646DF1D-7F0D-43C4-9BDD-728F9A23B338
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C536648>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0010134>
p:direct-normalized/P5806 <http://snomed.info/id/70348004>
p:direct-normalized/P6366 <https://makg.org/entity/2781419390>
<https://makg.org/entity/2910086011>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0060744>
wdt:P11143 "Pendred syndrome"
wdt:P11430 "DI-00905"
wdt:P1193 0.00005^^xsd:decimal
wdt:P1417 "science/Pendreds-syndrome"
wdt:P14914 "D00705"
wdt:P1550 "705"
wdt:P1748 "C121745"
wdt:P1995 endocrinology
wdt:P2293 SLC26A4
FOXI1
KCNJ10
wdt:P279 autosomal recessive disease
syndrome
syndromic hypothyroidism
syndromic genetic deafness
Thyroid dyshormonogenesis
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:0060744>
<http://purl.obolibrary.org/obo/DOID_0060744>
<http://www.orpha.net/ORDO/Orphanet_705>
wdt:P2892 "C0271829"
wdt:P31 type of disease
rare disease
wdt:P4229 "E07.1"
wdt:P4317 "4271"
wdt:P486 "C536648"
wdt:P492 "274600"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0010134"
wdt:P557 "9771"
wdt:P5806 "70348004"
wdt:P6366 "2781419390"
"2910086011"
wdt:P646 "/m/04ykk4"
wdt:P6532 kidney disease
vertigo
speech disorder
hyperparathyroidism
cerebellar ataxia
hypothyroidism
thyroid carcinoma
enlarged vestibular aqueduct
disability affecting intellectual abilities
tracheal stenosis
respiratory failure
sensorineural hearing loss
wdt:P668 "NBK1467"
wdt:P699 "DOID:0060744"
wdt:P7329 "5A00.02"
wdt:P7464 "pendred-syndrome"
wdt:P7807 "1156056623"
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data from SPARQL profile: Wikidata