{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-93454/","orphanet_url":"https://www.orpha.net/en/disease/detail/93454","names":{"fr":{"name":"Dysostose vertébrale ou costale"},"de":{"name":"Dysostose mit vorwiegend vertebraler und kostaler Beteiligung"},"es":{"name":"Disostosis con afectación predominantemente vertebral y costal"},"it":{"name":"Disostosi con prevalente coinvolgimento costale e vertebrale"},"nl":{"name":"Dysostose met overheersende vertebrale en costale betrokkenheid"},"pt":{"name":"Disostose com envolvimento predominantemente vertebral e das costelas"},"pl":{"name":"Dyzostoza z dominującym udziałem kręgów i żeber"},"cs":{"name":"Dysostózy s predominantním postižením obratlů a žeber"},"uk":{"name":"Дизостоз з переважним ураженням хребців та ребер"},"zh":{"name":"骨发育不全伴椎体和肋部受累"},"tr":{"name":"Dominant vertebral ve kostal tutulum ile seyreden disostoz"}},"xrefs":[{"source":"ICD-11","code":"LD24.H","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"395969787"},{"source":"UMLS","code":"C5681591","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":94095,"name":"OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome","status":"inactive"},{"type":"Referred to","orpha":329252,"name":"OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364559,"name":"Dysostosis","classifications":[147,199]},{"orpha":404568,"name":"Dysostosis of genetic origin","classifications":[156]}],"children":[{"orpha":2206,"name":"Ankylosing vertebral hyperostosis with tylosis","type":"Malformation syndrome"},{"orpha":1797,"name":"Autosomal dominant spondylocostal dysostosis","type":"Malformation syndrome"},{"orpha":2311,"name":"Autosomal recessive spondylocostal dysostosis","type":"Malformation syndrome"},{"orpha":85164,"name":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome","type":"Disease"},{"orpha":1393,"name":"Cerebrocostomandibular syndrome","type":"Malformation syndrome"},{"orpha":1394,"name":"Cerebrofaciothoracic dysplasia","type":"Malformation syndrome"},{"orpha":1552,"name":"Currarino syndrome","type":"Malformation syndrome"},{"orpha":720326,"name":"Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":66637,"name":"Diaphanospondylodysostosis","type":"Malformation syndrome"},{"orpha":2744,"name":"Horizontal gaze palsy with progressive scoliosis","type":"Disease"},{"orpha":2759,"name":"Imperforate oropharynx-costovertebral anomalies syndrome","type":"Malformation syndrome"},{"orpha":2345,"name":"Isolated Klippel-Feil syndrome","type":"Malformation syndrome"},{"orpha":447974,"name":"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome","type":"Malformation syndrome"},{"orpha":2482,"name":"Melhem-Fahl syndrome","type":"Malformation syndrome"},{"orpha":505248,"name":"Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders","type":"Malformation syndrome"},{"orpha":453499,"name":"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome","type":"Malformation syndrome"},{"orpha":2840,"name":"Pelvic dysplasia-arthrogryposis of lower limbs syndrome","type":"Malformation syndrome"},{"orpha":2062,"name":"Progressive non-infectious anterior vertebral fusion","type":"Malformation syndrome"},{"orpha":329191,"name":"Tall stature-long halluces-multiple extra-epiphyses syndrome","type":"Disease"},{"orpha":3456,"name":"Wildervanck syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}