{"orpha":101023,"name":"Cleft hard palate","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Cleft palate","url":"https://raremap.alftech.space/d/ORPHA-101023/","orphanet_url":"https://www.orpha.net/en/disease/detail/101023","names":{"fr":{"name":"Fente du palais dur"},"de":{"name":"Spaltbildung des harten Gaumens"},"es":{"name":"Fisura del paladar duro"},"it":{"name":"Schisi del palato duro"},"nl":{"name":"Schisis van palatum durum","synonyms":["Gespleten hard verhemelte"]},"pt":{"name":"Fenda do palato duro"},"pl":{"name":"Rozszczep podniebienia twardego"},"cs":{"name":"Rozštěp tvrdého patra"},"uk":{"name":"Розщілина твердого піднебіння"},"zh":{"name":"硬腭裂"},"tr":{"name":"Yarık sert damak"}},"xrefs":[{"source":"ICD-10","code":"Q35.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA42.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1047415764"},{"source":"MONDO","code":"0015092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432090","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19774","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2014,"name":"Cleft palate","classifications":[147,209]}],"children":[],"genes":[{"symbol":"UBB","name":"ubiquitin B","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17468296[PMID]","hgnc":"12463","ensembl":"ENSG00000170315","omim":"191339","loci":["17p11.2"]},{"symbol":"GRHL3","name":"grainyhead like transcription factor 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"27018472[PMID]_27018475[PMID]","hgnc":"25839","ensembl":"ENSG00000158055","omim":"608317","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-09","source":"33085275[PMID]","terms":[{"hpo":"HP:0000163","label":"Abnormal oral cavity morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}