{"orpha":171866,"name":"Spondyloepimetaphyseal dysplasia, aggrecan type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SEMD, aggrecan type"],"definition":"Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171866/","orphanet_url":"https://www.orpha.net/en/disease/detail/171866","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type aggrécane","synonyms":["SEMD type aggrécane"],"definition":"La dysplasie spondylo-épi-métaphysaire type aggrecan est une nouvelle forme de dysplasie squelettique caractérisée par une petite taille, une dysmorphie faciale et un ensemble unique de signes radiographiques."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, Typ Aggrecan","synonyms":["SEMD, Aggrecan-Typ"]},"es":{"name":"Displasia espondilometafisaria tipo agrecán","definition":"La displasia espondiloepimetafisaria tipo agrecán es una forma de displasia esquelética caracterizada por talla baja, dismorfia facial y hallazgos radiológicos característicos."},"it":{"name":"Displasia spondiloepimetafisaria, tipo aggrecano","synonyms":["SEMD, tipo aggrecano"]},"nl":{"name":"Spondylo-epimetafysaire dysplasie, aggrecan-type","synonyms":["SEMD, aggrecan-type"],"definition":"Een vorm van skeletdysplasie, gekenmerkt door ernstige kleine gestalte, faciale dysmorfie, en typische radiografische bevindingen."},"pt":{"name":"Displasia espondiloepimetafisária, tipo aggrecan"},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa, typ agrekan","synonyms":["SEMD, typ agrekan"]},"cs":{"name":"Spondyloepimetafyzární dysplázie, typ agrekan","synonyms":["SEMD, typ agrekan"]},"uk":{"name":"Спондилоепіметафізарна дисплазія, агрекановий тип","synonyms":["SEMD, агрегатний тип"],"definition":"Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings."},"zh":{"name":"蛋白聚糖型脊柱干骺端发育不良","synonyms":["蛋白聚糖型SEMD"],"definition":"蛋白聚糖型脊椎干骺端发育不良症是一种新型骨骼发育不良，其主要临床表现为重度身材矮小，面部畸形和特异性影像学表现。"},"tr":{"name":"Spondiloepimetafizyal displazi, agrekan tipi","synonyms":["SEMD, agrekan tipi"]}},"xrefs":[{"source":"OMIM","code":"612813","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1133152894"},{"source":"MONDO","code":"0013014","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567558","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748544","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10513","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":674499,"name":"Proteoglycan-related bone disorder","classifications":[156]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ACAN","name":"aggrecan","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19110214[PMID]","hgnc":"319","ensembl":"ENSG00000157766","omim":"155760","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"19110214[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19110214[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-19","source":"19110214[PMID]","terms":[{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005285","label":"Absent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001552","label":"Barrel-shaped chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null}]}}