{"Name":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome","DiseaseID__c":"GARD:0017642","id":17642,"encodedName":"sacral-agenesis-abnormal-ossification-of-the-vertebral-bodies-persistent-notochordal-canal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome","Xref_IDs__c":"C3810343; MEDGEN:816673; MONDO:0014314; OMIM:615709; ORPHA:397927","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:397927","Disease_Description__c":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.","GARD_Name__c":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome","GARD_Synonym__c":"sacral agenesis with vertebral anomalies","Curated_Disease_Description_Source__c":"ORPHA:397927","Curated_Disease_Description__c":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:397927","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014314","ORPHANET_ID__c":"ORPHA:397927","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de agenesia sacra-osificación anómala de los cuerpos vertebrales-canal notocordal persistente","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de agenesia sacra-osificación anómala de los cuerpos vertebrales-canal notocordal persistente","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":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.","Curated_Disease_Description_Source__c":"ORPHA:397927","GARD_Synonym__c":"sacral agenesis with vertebral anomalies","Name":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notocho","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:397927"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:397927"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816673","Source__c":"C3810343","Xref__c":"MEDGEN:816673"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810343","Source__c":"C3810343","Xref__c":"C3810343"},{"URL__c":"https://www.orpha.net/en/disease/detail/397927","Source__c":"C3810343; MONDO:0014314","Xref__c":"ORPHA:397927"},{"URL__c":"https://www.omim.org/entry/615709","Source__c":"C3810343; MONDO:0014314; ORPHA:397927","Xref__c":"OMIM:615709"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014314","Source__c":"GARD:0017642","Xref__c":"MONDO:0014314"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBXT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tbxt","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615709","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Schisis (cleft or cleavage) of vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008428","HPO_Synonym__c":"Vertebral clefts","HPO_Name__c":"Vertebral clefting","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615709","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615709","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more of the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003468","HPO_Synonym__c":"Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies","HPO_Name__c":"Abnormal vertebral morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615709","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence (aplasia) of the sacrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010305","HPO_Synonym__c":"Absent sacrum; Sacral agenesis","HPO_Name__c":"Absence of the sacrum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615709","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012621","HPO_Synonym__c":"Cloacogenic bladder","HPO_Name__c":"Persistent cloaca","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615709","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A unilateral form of agenesis of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000122","HPO_Synonym__c":"Absent kidney on one side; Missing one kidney; Single kidney; Unilateral kidney agenesis","HPO_Name__c":"Unilateral renal agenesis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["sacral agenesis with vertebral anomalies"]}