achondroplasia

osteochondrodysplasia that results in dwarfism from abnormal ossification of cartilage in long bones
rdfs:label
"achondroplasia"@en
skos:altLabel
"Chondrodystrophia"@en
"achondroplastic dwarfism"@en
"achondroplastic physique"@en
"osteosclerosis congenita"@en
schema:description
"osteochondrodysplasia that results in dwarfism from abnormal ossification of cartilage in long bones"@en
schema:dateModified "2026-10-23T23:25:46+00:00"^^xsd:dateTime
schema:version 2560154464
wikibase:identifiers 42
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<http://id.nlm.nih.gov/mesh/C05.116.099.708.017>
<http://id.nlm.nih.gov/mesh/C16.320.240.500>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:4480>
p:direct-normalized/P8408 <http://kbpedia.org/kko/rc/Achondroplasia>
wdt:P10283 "C2780472190"
wdt:P11143 "Achondroplasia"
wdt:P11430 "DI-00021"
wdt:P12800 "fr:Achondroplasie"
wdt:P1325 <http://www.nanbyou.or.jp/entry/4570>
wdt:P1343 Great Soviet Encyclopedia (1926–1947)
wdt:P1417 "science/achondroplasia"
wdt:P1461 "achondroplasia"
wdt:P14914 "D00015"
wdt:P1550 "15"
wdt:P1617 "abf65f04-6678-441c-b86c-117616a7ae7a"
wdt:P1748 "C34345"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Achondroplasia%201.jpg>
<http://commons.wikimedia.org/wiki/Special:FilePath/Chondrodystrophia%20Calcificans%20Congenita%204.jpg>
<http://commons.wikimedia.org/wiki/Special:FilePath/Dackelpferd.jpg>
<http://commons.wikimedia.org/wiki/Special:FilePath/Female%20achondroplasic%20dwarf%20Wellcome%20L0062547.jpg>
wdt:P1995 medical genetics
wdt:P2293 FGFR3
wdt:P279 osteochondrodysplasia
wdt:P2841 congenital onset
neonatal onset
wdt:P2888 <http://identifiers.org/doid/DOID:4480>
<http://purl.obolibrary.org/obo/DOID_4480>
wdt:P2892 "C0001080"
wdt:P31 type of disease
designated intractable/rare disease
rare disease
wdt:P3417 "Achondroplasia"
wdt:P3471 "2284"
wdt:P373 "Achondroplasia"
wdt:P3827 "achondroplasia"
wdt:P4229 "Q77.4"
wdt:P4233 "achondroplasia"
wdt:P4317 "8173"
wdt:P4527 "511927"
wdt:P4746 "019952"
wdt:P486 "D000130"
wdt:P492 "100800"
wdt:P493 "756.4"
wdt:P5008 WikiProject Medicine
wdt:P508 "42773"
wdt:P5082 "achondroplasi"
"akondroplasi"
wdt:P5270 "MONDO_0007037"
wdt:P557 "80"
wdt:P604 "001577"
wdt:P6366 "2780472190"
wdt:P646 "/m/0fmxg"
wdt:P6532 femoral bowing
short ribs
Respiratory distress
Cervical spinal canal stenosis
Floppy infant
dwarfism
congenital onset
anteverted nares
Ulnar bowing
pulmonary hypoplasia
polyhydramnios
wdt:P665 "H01749"
wdt:P668 "NBK1152"
wdt:P672 "C05.116.099.343.110"
"C05.116.099.708.017"
"C16.320.240.500"
wdt:P673 "1258401"
wdt:P699 "DOID:4480"
wdt:P7329 "LD24.00"
wdt:P7464 "achondroplasia"
wdt:P7807 "24224082"
wdt:P7982 "968"
wdt:P8408 "Achondroplasia"
wdt:P9272 "139"
wdt:P9495 "term/37d99e47-66a4-4d06-b146-3eb3a02c3c79"
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