{"Name":"Caudal duplication","DiseaseID__c":"GARD:0001164","id":1164,"encodedName":"caudal-duplication","IsDeleted":false,"Disease_Name_Full__c":"Caudal duplication","Xref_IDs__c":"71464000; C1842884; C564315; MEDGEN:335822; MONDO:0011928; OMIM:607864; ORPHA:1756","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011928","Disease_Description__c":"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.","GARD_Name__c":"Caudal duplication","GARD_Synonym__c":"dipygus; split notochord syndrome","Curated_Disease_Description_Source__c":"MONDO:0011928","Curated_Disease_Description__c":"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1756","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011928","ORPHANET_ID__c":"ORPHA:1756","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Duplicación caudal","Spanish_Description_Source__c":"ORPHA:1756","Spanish_Description__c":"Es una anomalía poco frecuente del desarrollo en la que las estructuras derivadas de la cloaca embrionaria y la notocorda están duplicadas en extensiones variables.","Spanish_Disease_Name__c":"duplicación caudal","Spanish_GARD_Synonym__c":"dipigo; síndrome de notocorda dividida","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":"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.","Curated_Disease_Description_Source__c":"MONDO:0011928","GARD_Synonym__c":"dipygus; split notochord syndrome","Name":"Caudal duplication","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.org/"}],"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Neonatal","Provided_By__c":"ORPHA:1756"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1756"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1842884"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335822","Source__c":"C1842884","Xref__c":"MEDGEN:335822"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=71464000","Source__c":"MONDO:0011928","Xref__c":"71464000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842884","Source__c":"C1842884","Xref__c":"C1842884"},{"URL__c":"https://www.omim.org/entry/607864","Source__c":"C1842884; MONDO:0011928; ORPHA:1756","Xref__c":"OMIM:607864"},{"URL__c":"https://www.orpha.net/en/disease/detail/1756","Source__c":"C1842884; MONDO:0011928","Xref__c":"ORPHA:1756"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564315","Source__c":"MONDO:0011928","Xref__c":"C564315"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011928","Source__c":"GARD:0001164","Xref__c":"MONDO:0011928"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AXIN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008678","HPO_Synonym__c":"Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia","HPO_Name__c":"Renal hypoplasia/aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003762","HPO_Synonym__c":"Didelphic uteri; Didelphic uterus; Didelphyc uterus; Doubling of uterus; Duplex uterus; Duplicated uterus; Duplication of uterus; Uterine didelphis; Uterine didelphys; Uterus didelphis; Uterus didelphus; Uterus duplex","HPO_Name__c":"Uterus didelphys","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000078","HPO_Synonym__c":"Genital abnormalities; Genital abnormality; Genital anomalies; Genital defects","HPO_Name__c":"Abnormality of the genital system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","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:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000073","HPO_Synonym__c":"Double ureter","HPO_Name__c":"Ureteral duplication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a fistula affecting the genitourinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100589","HPO_Name__c":"Urogenital fistula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the sacral bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005107","HPO_Synonym__c":"Abnormality of the sacrum","HPO_Name__c":"Abnormal sacrum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100561","HPO_Name__c":"Spinal cord lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of a bifid sacral bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009791","HPO_Name__c":"Bifid sacrum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality related to a defect of vertebral separation during development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003422","HPO_Synonym__c":"Abnormal spinal segmentation","HPO_Name__c":"Vertebral segmentation defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the male external sex organ.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000036","HPO_Synonym__c":"Abnormality of the penis","HPO_Name__c":"Abnormal penis morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1756","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100668","HPO_Synonym__c":"Bowel duplication","HPO_Name__c":"Intestinal duplication","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Nephrology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Nephrology","Gastroenterology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["dipygus"," split notochord syndrome"]}