{"orpha":1802,"name":"Ghosal hematodiaphyseal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ghosal syndrome","Diaphyseal dysplasia-anemia syndrome"],"definition":"Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1802/","orphanet_url":"https://www.orpha.net/en/disease/detail/1802","names":{"fr":{"name":"Dysplasie hémato-diaphysaire de Ghosal","synonyms":["Syndrome de Ghosal","Syndrome de dysplasie diaphysaire-anémie"],"definition":"La dysplasie hémato-diaphysaire de Ghosal (DHDG) est une maladie rare caractérisée par une densité osseuse augmentée (prédominant au niveau des diaphyses) et une anémie arégénérative corticosensible."},"de":{"name":"Dysplasie, hämatodiaphysäre, Typ Ghosal","synonyms":["Ghosal-Syndrom"],"definition":"Die hämatodiaphyseale Dysplasie vom Typ Ghosal ist eine seltene Erkrankung, die durch eine erhöhte Knochendichte (vorwiegend diaphysär) und eine regenerative kortikosteroidsensitive Anämie gekennzeichnet ist."},"es":{"name":"Displasia diafisaria-anemia","synonyms":["Síndrome de Ghosal"],"definition":"La displasia hemato-diafisaria de Ghosal (GHDD) es una enfermedad rara caracterizada por un incremento de la densidad ósea (predominantemente diafisial) y una anemia arregenerativa sensible a corticosteroides."},"it":{"name":"Displasia emato-diafisaria di Ghosal","synonyms":["Displasia diafisaria - anemia","Sindrome di Ghosal"]},"nl":{"name":"Hematodiafysaire dysplasie, Ghosal-type","synonyms":["Diafysaire dysplasie - anemie-syndroom","Syndroom van Ghosal"],"definition":"Hematodiafysaire dysplasie, Ghosal-type (GHDD) is een zeldzame aandoening, gekenmerkt door verhoogde botdensiteit (overwegend diafysair) en aregeneratieve corticosteroïdgevoelige anemie."},"pt":{"name":"Displasia hematodiafisária Ghosal","synonyms":["Displasia diafisária-anemia","Síndrome Ghosal"],"definition":"A síndrome de displasia hematodiafisária Ghosal (GHDD) é uma doença rara caracterizada por um aumento da densidade óssea (predominantemente diafisária) e anemia regenerativa sensível aos corticosteroides."},"pl":{"name":"Ghosal hematodiaphyseal dysplasia","synonyms":["Dysplazja przynasadowa - niedokrwistość","Zespół Ghosala"]},"cs":{"name":"Ghosalova hematodiafyzární dysplázie","synonyms":["Syndrom zahrnující diafyzární dysplázii a anémii","Ghosalův syndrom"]},"uk":{"name":"Гематодіафізарна дисплазія Госаля","synonyms":["Діафізарна дисплазія-анемічний синдром","Синдром Госала"],"definition":"Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia."},"zh":{"name":"Ghosal造血长骨骨干发育不全","synonyms":["骨干发育不全-贫血综合征"]},"tr":{"name":"Ghosal hematodiafisyel displazi","synonyms":["Ghosal sendromu","Diyafizer displazi-anemi sendromu"]}},"xrefs":[{"source":"OMIM","code":"231095","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":"21849048"},{"source":"MONDO","code":"0009274","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565551","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856465","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10297","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TBXAS1","name":"thromboxane A synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18264100[PMID]","hgnc":"11609","ensembl":"ENSG00000059377","omim":"274180","loci":["7q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}