{"orpha":364536,"name":"Primary bone dysplasia with micromelia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary osteodysplasia with micromelia","Primary skeletal dysplasia with micromelia"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-364536/","orphanet_url":"https://www.orpha.net/en/disease/detail/364536","names":{"fr":{"name":"Dysplasie osseuse primaire avec micromélie","synonyms":["Dysplasie squelettique primaire avec micromélie","Ostéodysplasie primaire avec micromélie"]},"de":{"name":"Primäre Knochendysplasie mit Mikromelie","synonyms":["Primäre Osteodysplasie mit Mikromelie","Primäre Skelettdysplasie mit Mikromelie"]},"es":{"name":"Displasia ósea primaria con micromelia","synonyms":["Displasia esquelética primaria con micromelia","Osteodisplasia primaria con micromelia"]},"it":{"name":"Displasia ossea primitiva con micromelia","synonyms":["Displasia scheletrica primitiva con micromelia","Osteodisplasia primitiva con micromelia"]},"nl":{"name":"Primaire botdysplasie met micromelie","synonyms":["Primaire osteodysplasie met micromelie","Primaire skeletdysplasie met micromelie"]},"pt":{"name":"Displasia óssea primária com micromelia"},"pl":{"name":"Pierwotna dysplazja kości z mikromelią","synonyms":["Pierwotna dysplazja szkieletowa z mikromelią","Pierwotna osteodysplazja z mikromelią"]},"cs":{"name":"Primární kostní dysplázie s mikromelií","synonyms":["Primární osteodysplázie s mikromelií"]},"uk":{"name":"Первинна дисплазія кісток з мікромелією","synonyms":["Первинна остеодисплазія з мікромелією","Первинна скелетна дисплазія з мікромелією"]},"zh":{"name":"原发性骨发育不良伴四肢短小","synonyms":["原发性骨发育不良伴短肢畸形"]},"tr":{"name":"Mikromeli ile seyreden primer kemik displazisi","synonyms":["Mikromeliye bağlı primer osteodisplazi","Mikromeliye bağlı primer iskelet displazisi"]}},"xrefs":[{"source":"MONDO","code":"18232","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93469,"name":"OBSOLETE: Harmonic micromelia","status":"inactive"},{"type":"Referred to","orpha":93470,"name":"OBSOLETE: Dysharmonic micromelia","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":15,"name":"Achondroplasia","type":"Disease"},{"orpha":1422,"name":"Chondrodysplasia-difference of sex development syndrome","type":"Malformation syndrome"},{"orpha":628,"name":"Diastrophic dysplasia","type":"Disease"},{"orpha":429,"name":"Hypochondroplasia","type":"Disease"},{"orpha":85165,"name":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome","type":"Disease"},{"orpha":2655,"name":"Thanatophoric dysplasia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}