SHMARQL

cystinosis

<http://www.wikidata.org/entity/Q1149042>

lysosomal storage disease characterized by the abnormal accumulation of cystine in lysosomes
cystinosis
rdfs:label
"cystinosis"@en
skos:altLabel
"Cystine diathesis"@en
"Cystine disease"@en
"Cystine storage disease"@en
"Cystinoses"@en
"Cystinosis (disorder)"@en
"Cystinosis (disorder) [Ambiguous]"@en
"Cystinosis [dup] (disorder)"@en
"Protein defect of cystin transport"@en
schema:description
"lysosomal storage disease characterized by the abnormal accumulation of cystine in lysosomes"@en
schema:dateModified "2026-10-23T23:38:39+00:00"^^xsd:dateTime
schema:version 2560156897
wikibase:identifiers 33
36
wikibase:sitelinks 22
wikibase:statements 59
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p:P699 wd:statement/Q1149042-6EFAB83D-EFE6-46AB-88CE-CBA3B357F8DA
p:P7329 wd:statement/Q1149042-8749BD7F-FC5F-4FB3-B457-F04F1790DD05
p:P7464 wd:statement/Q1149042-7DC5C93F-14C2-4838-8422-C6DC5A1DBFF5
p:P7807 wd:statement/Q1149042-6180DC89-29AF-4C4A-883A-1B4E9E93B587
p:direct-normalized/P2581 <http://babelnet.org/rdf/s01164484n>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D003554>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0016239>
p:direct-normalized/P5806 <http://snomed.info/id/367374009>
p:direct-normalized/P6366 <https://makg.org/entity/2778518273>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00275>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C16.320.565.595.377>
<http://id.nlm.nih.gov/mesh/C18.452.648.595.377>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:1064>
wdt:P10283 "C2778518273"
wdt:P11143 "Cystinosis"
wdt:P1193 0.00005^^xsd:decimal
wdt:P1343 The Unified Medical Dictionary (Librairie du Liban, 2009)
wdt:P1417 "science/cystinosis"
wdt:P14914 "D00213"
wdt:P1550 "213"
wdt:P1748 "C129932"
"C2976"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Cystine-skeletal.png>
wdt:P1995 endocrinology
wdt:P2176 cysteamine
wdt:P2293 CTNS
wdt:P2581 "01164484n"
wdt:P279 autosomal recessive disease
inborn disorder of lysosomal amino acid transport
lysosomal storage disease
wdt:P2841 infantile onset
childhood onset
juvenile onset
adult onset
wdt:P2888 <http://identifiers.org/doid/DOID:1064>
<http://purl.obolibrary.org/obo/DOID_1064>
<http://www.orpha.net/ORDO/Orphanet_213>
wdt:P2892 "C0010690"
"C2931187"
"C4316899"
wdt:P31 type of disease
rare disease
wdt:P373 "Cystinosis"
wdt:P3827 "cystinosis"
wdt:P4229 "E72.0"
"E72.04"
wdt:P4233 "cystinosis"
wdt:P4317 "6236"
wdt:P486 "D003554"
wdt:P492 "219750"
"219800"
"219900"
wdt:P493 "270.0"
wdt:P5008 WikiProject Medicine
wdt:P5082 "cystinose"
wdt:P5270 "MONDO_0016239"
wdt:P557 "3382"
wdt:P5806 "367374009"
wdt:P6366 "2778518273"
wdt:P646 "/m/064rf4"
wdt:P6532 hepatomegaly
wdt:P665 "H00275"
wdt:P668 "NBK1400"
wdt:P672 "C16.320.565.595.377"
"C18.452.648.595.377"
wdt:P673 "981650"
wdt:P699 "DOID:1064"
wdt:P7329 "5C60.1"
wdt:P7464 "cystinosis"
wdt:P7807 "733715856"
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