{"Name":"Diaphanospondylodysostosis","DiseaseID__c":"GARD:0016674","id":16674,"encodedName":"diaphanospondylodysostosis","IsDeleted":false,"Disease_Name_Full__c":"Diaphanospondylodysostosis","Xref_IDs__c":"721094006; C1842691; C564305; MEDGEN:374993; MONDO:0011946; OMIM:608022; ORPHA:66637","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011946","Disease_Description__c":"A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency.","GARD_Name__c":"Diaphanospondylodysostosis","GARD_Synonym__c":"vertebral ossification, defect in, with nephrogenic rests","Curated_Disease_Description_Source__c":"ORPHA:66637","Curated_Disease_Description__c":"Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:66637","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011946","ORPHANET_ID__c":"ORPHA:66637","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diafanoespondilodisostosis","Spanish_Description_Source__c":"ORPHA:66637","Spanish_Description__c":"Es una displasia ósea primaria poco frecuente caracterizada por defectos de osificación costovertebral con tórax angosto, segmentación vertebral anómala y espacios costales posteriores que contienen tejido mesenquimatoso mal diferenciado. Las características craneofaciales dismórficas incluyen hipertelorismo ocular, pliegues epicánticos, puente nasal deprimido con nariz corta y orejas de implantación baja. Las manifestaciones extraóseas más comunes son las anomalías renales, como los riñones multiquísticos. La enfermedad suele ser letal perinatalmente debido a insuficiencia respiratoria.","Spanish_Disease_Name__c":"diafanoespondilodisostosis","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.","Curated_Disease_Description_Source__c":"ORPHA:66637","GARD_Synonym__c":"vertebral ossification, defect in, with nephrogenic rests","Name":"Diaphanospondylodysostosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:66637"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:66637"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:66637"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564305","Source__c":"MONDO:0011946","Xref__c":"C564305"},{"URL__c":"https://www.orpha.net/en/disease/detail/66637","Source__c":"C1842691; MONDO:0011946; ORPHA:66637","Xref__c":"ORPHA:66637"},{"URL__c":"https://www.omim.org/entry/608022","Source__c":"C1842691; MONDO:0011946; ORPHA:66637","Xref__c":"OMIM:608022"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721094006","Source__c":"C1842691; MONDO:0011946","Xref__c":"721094006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374993","Source__c":"C1842691","Xref__c":"MEDGEN:374993"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842691","Source__c":"C1842691","Xref__c":"C1842691"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011946","Source__c":"GARD:0016674","Xref__c":"MONDO:0011946"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BMPER","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004599","HPO_Name__c":"Absent or minimally ossified vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of many cysts in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005562","HPO_Synonym__c":"Multiple kidney cysts","HPO_Name__c":"Multiple renal cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005640","HPO_Name__c":"Abnormal vertebral segmentation and fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced side to side width of the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003275","HPO_Synonym__c":"Narrow pelvis bone","HPO_Name__c":"Narrow pelvis bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced inferior to superior extent of the thorax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010306","HPO_Synonym__c":"Shorter than typical length between neck and abdomen","HPO_Name__c":"Short thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly with absence of one or more ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000921","HPO_Synonym__c":"Absent ribs; Decreased rib number; Missing ribs","HPO_Name__c":"Missing ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002475","HPO_Synonym__c":"Meningomyelocele; Spina bifida cystica","HPO_Name__c":"Myelomeningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100625","HPO_Synonym__c":"Wide rib cage; Wide thorax","HPO_Name__c":"Enlarged thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["vertebral ossification, defect in, with nephrogenic rests"]}