{"orpha":176,"name":"Non-rhizomelic chondrodysplasia punctata","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-176/","orphanet_url":"https://www.orpha.net/en/disease/detail/176","names":{"fr":{"name":"Chondrodysplasie ponctuée non rhizomélique","definition":"La chondrodysplasie ponctuée non rhizomélique est une forme de chondrodysplasie ponctuée , un groupe de maladies caractérisées par la présence, dès la naissance, de calcifications au voisinage des articulations. La chondrodysplasie ponctuée non rhizomélique n'est pas une seule entité mais regroupe plusieurs maladies de transmission variable."},"de":{"name":"Chondrodysplasia punctata, nicht-rhizomeler Typ","definition":"Die Nicht-rhizomele Chondrodysplasia punctata ist eine Form von Chodrodysplasia punctata (s. dort), einer Gruppe von Krankheiten, deren gemeinsames Merkmal bei Geburt bestehende Knochenverkalkungen in der Nähe der Gelenke sind. Die nicht-rhizomele Chondrodysplasie ist keine eigene Entität, sondern umfasst verschiedene Krankheiten mit unterschiedlichen Symptomen und unterschiedlicher Vererbung."},"es":{"name":"Condrodisplasia punctata no rizomélica","definition":"La condrodisplasia punctata no rizomélica es una forma de la condrodisplasia punctata, un grupo de enfermedades caracterizadas por la presencia de calcificaciones alrededor de las articulaciones desde el nacimiento. La condrodisplasia punctata no rizomélica no constituye una entidad por si misma, sino que engloba diversas enfermedades con manifestaciones clínicas y modos de transmisión variables."},"it":{"name":"Condrodisplasia puntata, tipo non rizomelico"},"nl":{"name":"Niet-rhizomele chondrodysplasia punctata","definition":"Niet-rhizomele chondrodysplasia punctata is een vorm van chondrodysplasia punctata, een groep van ziekten die botverkalking nabij gewrichten vanaf de geboorte delen als gemeenschappelijke kenmerk. Niet-rhizomele chondrodysplasia punctata is geen entiteit op zich, maar vertegenwoordigt verschillende ziekten met variabele klinische bevindingen en manieren van transmissie."},"pt":{"name":"Condrodisplasia pontuada não-rizomélica","definition":"A condrodisplasia não-rizomélica é uma forma de condrodisplasia punctata, um grupo de doenças em que a característica comum é a ocorrência de calcificações ósseas perto das articulações à nascença. A condrodisplasia punctata não-rizomélica não é uma entidade por si só mas engloba várias doenças com achados clínicos e tipos de hereditariedade variáveis."},"pl":{"name":"Chondrodysplazja punktowa nierizomeliczna"},"cs":{"name":"Non-rhizomelická chondrodysplasia punctata"},"uk":{"name":"Нерізомелічна точкова хондродисплазія","definition":"Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission."},"zh":{"name":"非肢端点状软骨发育异常"},"tr":{"name":"Rizomelik olmayan kondrodisplazi punktata"}},"xrefs":[{"source":"MONDO","code":"0015775","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15775","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681009","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93442,"name":"Chondrodysplasia punctata","classifications":[147,156,199]}],"children":[{"orpha":79345,"name":"Brachytelephalangic chondrodysplasia punctata","type":"Malformation syndrome"},{"orpha":79347,"name":"Chondrodysplasia punctata, Toriello type","type":"Malformation syndrome"},{"orpha":79346,"name":"Chondrodysplasia punctata, tibial-metacarpal type","type":"Malformation syndrome"},{"orpha":35173,"name":"X-linked dominant chondrodysplasia punctata","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}