{"orpha":1782,"name":"Dysosteosclerosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1782/","orphanet_url":"https://www.orpha.net/en/disease/detail/1782","names":{"fr":{"name":"Dysostéosclérose","definition":"Dysplasie osseuse primaire rare d'origine génétique, caractérisée par une ostéosclérose et une platyspondylie progressives."},"de":{"name":"Dysosteosklerose","definition":"Eine genetisch bedingte primäre Knochendysplasie, die durch fortschreitende Osteosklerose und Platyspondylie gekennzeichnet ist."},"es":{"name":"Disosteoesclerosis","definition":"Es una displasia esquelética primaria de origen genético poco frecuente caracterizada por osteoesclerosis progresiva y platispondilia."},"it":{"name":"Disostosclerosi","definition":"La disostosclerosi è una displasia scheletrica primitiva rara, di origine genetica, caratterizzata da osteosclerosi e platispondilia progressive."},"nl":{"name":"Dysosteosclerose","definition":"Een zeldzame, genetische primaire botdysplasie, gekarakteriseerd door progressieve osteosclerose en platyspondylie."},"pt":{"name":"Disosteosclerose","definition":"A disosteosclerose é uma displasia esquelética caracterizada por osteosclerose progressiva e platispondilia."},"pl":{"name":"Dysosteoskleroza"},"cs":{"name":"Dysosteoskleróza"},"uk":{"name":"Дизостеосклероз","definition":"A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly."},"zh":{"name":"骨硬化性发育不全"},"tr":{"name":"Disosteoskleroz"}},"xrefs":[{"source":"OMIM","code":"224300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1853176074"},{"source":"MONDO","code":"0009138","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562973","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432262","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2012","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]}],"children":[],"genes":[{"symbol":"SLC29A3","name":"solute carrier family 29 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":null,"hgnc":"23096","ensembl":"ENSG00000198246","omim":"612373","loci":["10q22.1"]},{"symbol":"TCIRG1","name":"T cell immune regulator 1, ATPase H+ transporting V0 subunit a3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30537558[PMID]","hgnc":"11647","ensembl":"ENSG00000110719","omim":"604592","loci":["11q13.2"]},{"symbol":"TNFRSF11A","name":"TNF receptor superfamily member 11a","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29568001[PMID]_31163101[PMID]","hgnc":"11908","ensembl":"ENSG00000141655","omim":"603499","loci":["18q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"20499338[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"20499338[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008479","label":"Hypoplastic vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003301","label":"Irregular vertebral endplates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null}]}}