SHMARQL

arthrogryposis–renal dysfunction–cholestasis syndrome

<http://www.wikidata.org/entity/Q4797658>

human disease
rdfs:label
"arthrogryposis–renal dysfunction–cholestasis syndrome"@en
skos:altLabel
"ARC syndrome"@en
"ARCS1"@en
"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS"@en
"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1"@en
"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1"@en
"Arthrogryposis, Renal Dysfunction, and Cholestasis type 1"@en
"Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome"@en
"Arthrogryposis-renal dysfunction-cholestasis"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-23T23:53:27+00:00"^^xsd:dateTime
schema:version 2560160002
wikibase:identifiers 15
wikibase:sitelinks 2
wikibase:statements 43
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p:P11430 wd:statement/Q4797658-5926b4fc-4d14-3a73-5802-8ffdbd3a50ef
p:P1193 wd:statement/Q4797658-876EC66F-B6CD-457C-8F05-5E11E40E2CB5
p:P14914 wd:statement/Q4797658-9D75E8BF-F216-4345-ADDD-ED58D1305C3B
p:P1550 wd:statement/Q4797658-4de9b9d0-4922-0366-cf70-9acf3b7b0f4a
p:P1995 wd:statement/Q4797658-E2DF8EE6-0435-400A-9311-C8A0A2AE4FF5
p:P2293 wd:statement/Q4797658-386A5990-551C-44D3-BE48-0B737441CCBF
wd:statement/Q4797658-539BDDCA-88FF-4075-A7F7-8309D8A61BC2
p:P279 wd:statement/Q4797658-0c4ea849-4124-58bb-11a2-65a0417e7b9b
wd:statement/Q4797658-485A1101-B313-4EA9-B60C-8857BE724325
wd:statement/Q4797658-4861ab35-41c2-ecff-36f8-bf28ca6345e4
wd:statement/Q4797658-96922ce8-4cbe-4f4a-6bf3-29a3411e3170
wd:statement/Q4797658-D0D3C5FC-561E-4683-8B3D-826E893E9F90
p:P2841 wd:statement/Q4797658-344A901A-F975-43E7-BAAA-7218A4BC0533
p:P2888 wd:statement/Q4797658-23B84409-BB8B-445C-949D-B09E2DDD887A
wd:statement/Q4797658-AEF1C30B-73B8-46C6-A640-DF7B96D6EF66
wd:statement/Q4797658-BC3015AD-2C3A-474F-932C-E06A6F82C0AC
p:P2892 wd:statement/Q4797658-3285C482-A139-41EC-AF41-CCD78469A3B7
wd:statement/Q4797658-F42592F8-0BAE-4EBE-AC61-BD2754E66255
p:P31 wd:statement/Q4797658-74D13CE1-380E-4B70-8243-0055C82F9316
wd:statement/Q4797658-A91064BA-DEEC-4F76-9736-0FDF04FA0ECC
p:P4317 wd:statement/Q4797658-3F15EE3E-A01C-4C27-8022-3F29CF87C328
p:P486 wd:statement/Q4797658-69bf3dd7-4e26-6b68-43dd-689a2c8df03f
p:P492 wd:statement/Q4797658-3026FB1D-B5F7-4435-ABBA-05D56AD35A50
wd:statement/Q4797658-D0D49AAB-3238-4392-9E0A-CCF43D3F0889
p:P5008 wd:statement/Q4797658-FF39B77D-B8E7-4B22-9F87-C3EF34A7B49B
p:P5270 wd:statement/Q4797658-DF428CDC-FB39-4E3C-BA9B-422FDD798500
p:P6366 wd:statement/Q4797658-191ED1C7-01AA-4BFE-ABEF-9A45AA850406
p:P6532 wd:statement/Q4797658-0B29458A-6CB8-4FB5-9D66-F82B7F966668
wd:statement/Q4797658-26B91BA5-6B31-41DA-96EB-27734F760348
wd:statement/Q4797658-345B674C-7EFC-4101-A914-047AE4EFCFE1
wd:statement/Q4797658-3D3B0024-CF70-46FD-9088-AC2ACFCB18D3
wd:statement/Q4797658-4ACD636D-A76E-4A71-966B-3230A54242C2
wd:statement/Q4797658-74FE4753-E598-4004-B522-F3B2ED20EDE2
wd:statement/Q4797658-77969ACC-A1F4-4E33-A9B5-135293888A72
wd:statement/Q4797658-9656EBCD-7C4F-4A4D-8C7F-F77C3506D7F5
wd:statement/Q4797658-CFCDA280-1E5B-4F5B-9C69-AC60FA06A7BE
wd:statement/Q4797658-D5494EFF-011E-4B42-AFC2-AFFAD3C7733A
wd:statement/Q4797658-E4F0C559-1D42-4A8E-B9A4-3B789C3FF7BD
wd:statement/Q4797658-FA3C6599-2551-4D1E-BB72-FD55809B1575
p:P665 wd:statement/Q4797658-61DA7D9D-E280-4430-900E-865FCAB2BBFE
p:P699 wd:statement/Q4797658-93773AA1-E8CC-4416-A9C1-2AA4EA6B2E31
p:P7807 wd:statement/Q4797658-745BBC99-D20F-4364-B087-F49C110699E6
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C535382>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0008822>
p:direct-normalized/P6366 <https://makg.org/entity/2775892309>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00950>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0050763>
wdt:P11143 "Arthrogryposis–renal dysfunction–cholestasis syndrome"
wdt:P11430 "DI-00136"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D02697"
wdt:P1550 "2697"
wdt:P1995 dermatology
wdt:P2293 VPS33B
VIPAS39
wdt:P279 tubulopathy
cholestasis
syndrome
neurogenic arthrogryposis multiplex congenita
wdt:P2841 neonatal onset
wdt:P2888 <http://identifiers.org/doid/DOID:0050763>
<http://purl.obolibrary.org/obo/DOID_0050763>
<http://www.orpha.net/ORDO/Orphanet_2697>
wdt:P2892 "C1859722"
"C4551984"
wdt:P31 type of disease
rare disease
wdt:P4317 "794"
wdt:P486 "C535382"
wdt:P492 "208085"
"613404"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0008822"
wdt:P6366 "2775892309"
wdt:P6532 reinfection
osteopenia
Failure to thrive in infancy
Congenital bilateral hip dislocation
skeletal muscle atrophy
nephrocalcinosis
hyperkeratosis
hypothyroidism
conjugated hyperbilirubinemia
disability affecting intellectual abilities
microcephaly
ichthyosis
wdt:P665 "H00950"
wdt:P699 "DOID:0050763"
wdt:P7807 "2089839503"
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