{"Name":"Craniorachischisis","DiseaseID__c":"GARD:0010504","id":10504,"encodedName":"craniorachischisis","IsDeleted":false,"Disease_Name_Full__c":"Craniorachischisis","Xref_IDs__c":"32219008; C0152426; C98907; HP:0030770; MEDGEN:56290; MONDO:0018969; ORPHA:63260; Q00.1","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018969","Disease_Description__c":"Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.","GARD_Name__c":"Craniorachischisis","GARD_Synonym__c":"cranial rachischisis; craniorachischisis (disease)","Curated_Disease_Description_Source__c":"GARD:0010504","Curated_Disease_Description__c":"Craniorachischisis is the most severe type of neural tube defect in which both the brain and spinal cord remain open; both anencephaly and spina bifida (from the cervical region to the lumbar or sacral region of the spine) are present. Fetuses with Craniorachischisis often miscarry during pregnancy or die shortly after birth. The cause is thought to be multifactorial, which means that a combination of genetic and non-genetic factors play a role.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:63260","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018969","ORPHANET_ID__c":"ORPHA:63260","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Craneorraquisquisis","Spanish_Description_Source__c":"ORPHA:63260","Spanish_Description__c":"Es la forma más grave de las anomalías del tubo neural, en la que tanto el cerebro como la médula espinal permanecen abiertos en grado variable. Es una malformación congénita muy poco frecuente del sistema nervioso central.","Spanish_Disease_Name__c":"craneorraquisquisis","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":"Craniorachischisis is the most severe type of neural tube defect in which both the brain and spinal cord remain open; both anencephaly and spina bifida (from the cervical region to the lumbar or sacral region of the spine) are present. Fetuses with Craniorachischisis often miscarry during pregnancy or die shortly after birth. The cause is thought to be multifactorial, which means that a combination of genetic and non-genetic factors play a role.","Curated_Disease_Description_Source__c":"GARD:0010504","GARD_Synonym__c":"cranial rachischisis; craniorachischisis (disease)","Name":"Craniorachischisis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spina Bifida Association","Website__c":"https://www.spinabifidaassociation.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:63260"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:63260"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010504","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/63260","Source__c":"C0152426; MONDO:0018969; ORPHA:63260","Xref__c":"ORPHA:63260"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=32219008","Source__c":"C0152426; MONDO:0018969","Xref__c":"32219008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0152426","Source__c":"C0152426","Xref__c":"C0152426"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98907","Source__c":"C0152426; MONDO:0018969","Xref__c":"C98907"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56290","Source__c":"C0152426","Xref__c":"MEDGEN:56290"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018969","Source__c":"GARD:0010504","Xref__c":"MONDO:0018969"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q00.1","Source__c":"MONDO:0018969","Xref__c":"Q00.1"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030770","Source__c":"C0152426","Xref__c":"HP:0030770"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DACT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:63260","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a hernia of the diaphragm present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000776","HPO_Synonym__c":"Diaphragmatic hernia","HPO_Name__c":"Congenital diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63260","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect in which the legs are fused together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010497","HPO_Name__c":"Sirenomelia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63260","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:63260","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:63260","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005857","HPO_Name__c":"Cervical spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63260","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:63260","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010309","HPO_Synonym__c":"Sternal cleft","HPO_Name__c":"Bifid sternum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63260","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"}},{"Provided_By__c":"ORPHA:63260","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002323","HPO_Synonym__c":"Embryonic anencephaly; Fetal anencephaly","HPO_Name__c":"Anencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["cranial rachischisis"," craniorachischisis (disease)"]}