{"Name":"Diastematomyelia","DiseaseID__c":"GARD:0001851","id":1851,"encodedName":"diastematomyelia","IsDeleted":false,"Disease_Name_Full__c":"Diastematomyelia","Xref_IDs__c":"49351009; C0011999; C98913; MEDGEN:3801; MONDO:0009106; OMIM:222500; ORPHA:1671; Q06.2","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0009106","Disease_Description__c":"A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.","GARD_Name__c":"Diastematomyelia","GARD_Synonym__c":"scm type 1; scm type i; split cord malformation; split cord malformation type 1; split cord malformation type i; split spinal cord; split spinal cord malformation","Curated_Disease_Description_Source__c":"GARD:0001851","Curated_Disease_Description__c":"Split spinal cord malformation type 1 (SSCM-1) is a rare form of spinal dysraphism in which a person is born with splitting, or duplication, of the spinal cord. It may be characterized by complete or incomplete division of the spinal cord, resulting in two 'hemicords.' Each hemicord has a full protective covering (thecal sac) and they are separated by a bony structure, forming a double spinal canal. While SSCM-1 is present from birth, it may become apparent at any age and is more common in women than in men. Some people may not have symptoms, while others may have a tethered cord and/or various other spinal abnormalities. Symptoms vary and may include back pain, bladder dysfunction, and leg pain or weakness. SSCM-1 is thought to be caused by abnormal formation of the notochord and neural tube (which ultimately form the brain and spinal cord) very early in embryonic development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:1671","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009106","ORPHANET_ID__c":"ORPHA:1671","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación de médula espinal hendida tipo i","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"malformación de médula espinal hendida tipo i","Spanish_GARD_Synonym__c":"malformación de médula espinal hendida tipo 1; scm tipo 1; scm tipo i","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":"Split spinal cord malformation type 1 (SSCM-1) is a rare form of spinal dysraphism in which a person is born with splitting, or duplication, of the spinal cord. It may be characterized by complete or incomplete division of the spinal cord, resulting in two 'hemicords.' Each hemicord has a full protective covering (thecal sac) and they are separated by a bony structure, forming a double spinal canal. While SSCM-1 is present from birth, it may become apparent at any age and is more common in women than in men. Some people may not have symptoms, while others may have a tethered cord and/or various other spinal abnormalities. Symptoms vary and may include back pain, bladder dysfunction, and leg pain or weakness. SSCM-1 is thought to be caused by abnormal formation of the notochord and neural tube (which ultimately form the brain and spinal cord) very early in embryonic development.","Curated_Disease_Description_Source__c":"GARD:0001851","GARD_Synonym__c":"scm type 1; scm type i; split cord malformation; split cord malformation type 1; split cord malformation type i; split spinal cord; split spinal cord malformation","Name":"Diastematomyelia","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":"Childhood","Provided_By__c":"ORPHA:1671"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:1671"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1671"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1671"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/222500","Source__c":"C0011999; MONDO:0009106; ORPHA:1671","Xref__c":"OMIM:222500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=3801","Source__c":"C0011999","Xref__c":"MEDGEN:3801"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=49351009","Source__c":"MONDO:0009106","Xref__c":"49351009"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98913","Source__c":"C0011999; MONDO:0009106","Xref__c":"C98913"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q06.2","Source__c":"MONDO:0009106","Xref__c":"Q06.2"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0011999","Source__c":"C0011999","Xref__c":"C0011999"},{"URL__c":"https://www.orpha.net/en/disease/detail/1671","Source__c":"C0011999; MONDO:0009106","Xref__c":"ORPHA:1671"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=445308004","Source__c":"C0011999","Xref__c":"445308004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009106","Source__c":"GARD:0001851","Xref__c":"MONDO:0009106"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1671","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth over much of the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002230","HPO_Synonym__c":"Excessive hairiness over body","HPO_Name__c":"Generalized hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1671","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1671","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100563","HPO_Name__c":"Diastomatomyelia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["scm type 1"," scm type i"," split cord malformation"," split cord malformation type 1"," split cord malformation type i"," split spinal cord"," split spinal cord malformation"]}