SHMARQL

pycnodysostosis

<http://www.wikidata.org/entity/Q974928>

osteochondrodysplasia that has material basis in a mutation in the CTSK gene which results in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges
rdfs:label
"pycnodysostosis"@en
skos:altLabel
"PKND"@en
"Pycd"@en
"pyknodysostosis"@en
schema:description
"osteochondrodysplasia that has material basis in a mutation in the CTSK gene which results in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges"@en
schema:dateModified "2026-10-24T00:33:42+00:00"^^xsd:dateTime
schema:version 2560166866
wikibase:identifiers 20
22
wikibase:sitelinks 14
wikibase:statements 59
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p:P1995 wd:statement/Q974928-03199132-775E-4151-B146-04881E50DD66
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wd:statement/Q974928-9A7E0DFF-465C-4FE0-9865-153E84AC3C1A
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wd:statement/Q974928-E65F71AE-CC27-438C-9732-4919A3EC061A
wd:statement/Q974928-F3CEA84E-4DD2-458A-A41D-58F2051492EB
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p:P4229 wd:statement/Q974928-2BED7C9A-998F-4B20-ABEB-E8A45833D06A
p:P4317 wd:statement/Q974928-A3C47D7D-2135-4D34-9078-EB5676EF4A4E
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wd:statement/Q974928-AE637570-950C-4827-B6DC-483E08B064C8
wd:statement/Q974928-E294A8E1-6913-43E3-A664-050A2D8FCC2D
p:P699 wd:statement/Q974928-603E026E-DBB6-4784-961D-53493FBDAC04
p:P8814 wd:statement/Q974928-46A7C1F2-47BB-4A1B-BDBB-10D7007D794C
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D058631>
p:direct-normalized/P5063 <http://globalwordnet.org/ili/i113235>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0009940>
p:direct-normalized/P6366 <https://makg.org/entity/2776967490>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00273>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C05.116.099.708.779>
<http://id.nlm.nih.gov/mesh/C16.320.565.595.800>
<http://id.nlm.nih.gov/mesh/C16.320.812>
<http://id.nlm.nih.gov/mesh/C18.452.648.595.800>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0080038>
p:direct-normalized/P8814 <http://wordnet-rdf.princeton.edu/rdf/id/14530135-n>
wdt:P11143 "Pycnodysostosis"
wdt:P11430 "DI-00964"
wdt:P1193 0.000005^^xsd:decimal
wdt:P14914 "D00763"
wdt:P1550 "763"
wdt:P1748 "C131187"
wdt:P1995 medical genetics
endocrinology
rheumatology
wdt:P2293 CTSK
wdt:P279 genetic disease
osteochondrodysplasia
developmental anomaly of metabolic origin
wdt:P2841 infantile onset
childhood onset
juvenile onset
adult onset
wdt:P2888 <http://identifiers.org/doid/DOID:0080038>
<http://purl.obolibrary.org/obo/DOID_0080038>
<http://www.orpha.net/ORDO/Orphanet_763>
wdt:P2892 "C0238402"
wdt:P31 type of disease
rare disease
wdt:P3827 "pycnodysostosis"
wdt:P4229 "Q78.8"
wdt:P4317 "4611"
wdt:P486 "D058631"
wdt:P492 "265800"
wdt:P5008 WikiProject Medicine
wdt:P5063 "i113235"
wdt:P5270 "MONDO_0009940"
wdt:P6366 "2776967490"
wdt:P646 "/m/043q8j_"
wdt:P6532 narrow chest
blue sclera
osteosclerosis
malocclusion
Dental caries
Hepatosplenomegaly
Rhizomelia
Osteolytic defects of the distal phalanges of the hand
tooth agenesis
osteopetrosis
strabismus
dwarfism
overweight
growth hormone deficiency
refractive error
dental enamel hypoplasia
abnormal lordosis
respiratory sound
wdt:P665 "H00273"
wdt:P672 "C05.116.099.708.779"
"C16.320.565.595.800"
"C16.320.812"
"C18.452.648.595.800"
wdt:P699 "DOID:0080038"
wdt:P8814 "14530135-n"
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