{"Name":"Spina bifida-hypospadias syndrome","DiseaseID__c":"GARD:0004940","id":4940,"encodedName":"spina-bifida-hypospadias-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spina bifida-hypospadias syndrome","Xref_IDs__c":"C4706660; MEDGEN:1638294; MONDO:0017857; ORPHA:3176","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","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":3,"Description_Source__c":"MONDO:0017857","Disease_Description__c":"Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.","GARD_Name__c":"Spina bifida-hypospadias syndrome","GARD_Synonym__c":"spina bifida and hypospadias syndrome","Curated_Disease_Description_Source__c":"MONDO:0017857","Curated_Disease_Description__c":"Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:3176","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017857","ORPHANET_ID__c":"ORPHA:3176","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de espina bífida-hipospadias","Spanish_Description_Source__c":"ORPHA:3176","Spanish_Description__c":"El síndrome de espina bífida-hipospadias es un trastorno poco frecuente asociado a defectos del desarrollo durante la embriogénesis caracterizado por la asociación específica de hipospadias glandular y espina bífida lumbosacra. Las personas afectadas pueden o no presentar anomalías congénitas adicionales, tales como hidrocefalia, microstomía, ductus arterioso permeable, criptorquidia, malrotación intestinal, pies en balancín e hipertricosis.","Spanish_Disease_Name__c":"síndrome de espina bífida-hipospadias","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":"Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.","Curated_Disease_Description_Source__c":"MONDO:0017857","GARD_Synonym__c":"spina bifida and hypospadias syndrome","Name":"Spina bifida-hypospadias syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spina Bifida Association","Website__c":"https://www.spinabifidaassociation.org/"},{"Account_Name__c":"Spina Bifida Resource Network","Website__c":"https://thesbrn.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":"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3176"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3176"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3176"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706660","Source__c":"C4706660","Xref__c":"C4706660"},{"URL__c":"https://www.orpha.net/en/disease/detail/3176","Source__c":"C4706660; MONDO:0017857; ORPHA:3176","Xref__c":"ORPHA:3176"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1638294","Source__c":"C4706660","Xref__c":"MEDGEN:1638294"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763889002","Source__c":"C4706660","Xref__c":"763889002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017857","Source__c":"GARD:0004940","Xref__c":"MONDO:0017857"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3176","HPO_Frequency__c":"Very frequent (80-99%)","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:3176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010301","HPO_Synonym__c":"Incomplete closure of the vertebral arch","HPO_Name__c":"Spinal dysraphism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Neurology","Urologist","Pediatrics"]},"synonyms":["spina bifida and hypospadias syndrome"]}