{"Name":"Chordoma","DiseaseID__c":"GARD:0001303","id":1303,"encodedName":"chordoma","IsDeleted":false,"Disease_Name_Full__c":"Chordoma","Xref_IDs__c":"1156453008; 50007008; C0008487; C2947; D002817; DOID:3302; HP:0010762; MEDGEN:40277; MONDO:0008978; OMIM:215400; ORPHA:178","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008978","Disease_Description__c":"Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.","GARD_Name__c":"Chordoma","GARD_Synonym__c":"chordoma (disease); chordoma, malignant; notochordal sarcoma; notochordoma","Curated_Disease_Description_Source__c":"GARD:0001303","Curated_Disease_Description__c":"A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs. Approximately half of all chordomas occur at the base of the spine (sacrum), about one third occur in the base of the skull (occiput), and the rest occur in the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of the spine. As the chordoma grows, it puts pressure on the adjacent areas of the brain or spinal cord, leading to the signs and symptoms of the disorder. A chordoma anywhere along the spine may cause pain, weakness, or numbness in the back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) and headaches. A chordoma that occurs in the tailbone (coccygeal chordoma) may result in a lump large enough to be felt through the skin and may cause problems with bladder or bowel function. Chordomas typically occur in adults between ages 40 and 70. About 5 percent of chordomas are diagnosed in children. For reasons that are unclear, males are affected about twice as often as females.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:178","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008978","ORPHANET_ID__c":"ORPHA:178","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cordoma","Spanish_Description_Source__c":"ORPHA:178","Spanish_Description__c":"Los cordomas son tumores malignos raros que se originan a partir de remanentes embrionarios de la notocorda en el esqueleto axial.","Spanish_Disease_Name__c":"cordoma","Spanish_GARD_Synonym__c":"sarcoma notocordal","Category_Linearization__c":"ORPHA:250908","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":"A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs. Approximately half of all chordomas occur at the base of the spine (sacrum), about one third occur in the base of the skull (occiput), and the rest occur in the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of the spine. As the chordoma grows, it puts pressure on the adjacent areas of the brain or spinal cord, leading to the signs and symptoms of the disorder. A chordoma anywhere along the spine may cause pain, weakness, or numbness in the back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) and headaches. A chordoma that occurs in the tailbone (coccygeal chordoma) may result in a lump large enough to be felt through the skin and may cause problems with bladder or bowel function. Chordomas typically occur in adults between ages 40 and 70. About 5 percent of chordomas are diagnosed in children. For reasons that are unclear, males are affected about twice as often as females.","Curated_Disease_Description_Source__c":"GARD:0001303","GARD_Synonym__c":"chordoma (disease); chordoma, malignant; notochordal sarcoma; notochordoma","Name":"Chordoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Chordoma Foundation","Website__c":"https://www.chordomafoundation.org/"},{"Account_Name__c":"Neuro-Oncology Branch Brain Tumor Clinic","Website__c":"https://ccr.cancer.gov/Neuro-Oncology-Branch"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:178"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001303","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3302","Source__c":"MONDO:0008978","Xref__c":"DOID:3302"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0008487","Source__c":"C0008487","Xref__c":"C0008487"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C2947","Source__c":"C0008487; MONDO:0008978","Xref__c":"C2947"},{"URL__c":"https://www.omim.org/entry/215400","Source__c":"MONDO:0008978; ORPHA:178","Xref__c":"OMIM:215400"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002817","Source__c":"C0008487; MONDO:0008978","Xref__c":"D002817"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=40277","Source__c":"C0008487","Xref__c":"MEDGEN:40277"},{"URL__c":"https://www.orpha.net/en/disease/detail/178","Source__c":"C0008487; MONDO:0008978; ORPHA:178","Xref__c":"ORPHA:178"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=50007008","Source__c":"C0008487","Xref__c":"50007008"},{"URL__c":"https://medlineplus.gov/genetics/condition/chordoma","Source__c":"GARD:0001303","Xref__c":"https://medlineplus.gov/genetics/condition/chordoma"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156453008","Source__c":"C0008487","Xref__c":"1156453008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008978","Source__c":"GARD:0001303","Xref__c":"MONDO:0008978"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010762","Source__c":"C0008487","Xref__c":"HP:0010762"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:215400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009592","HPO_Name__c":"Astrocytoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:215400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010762","HPO_Name__c":"Chordoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Orthopedics"],"Disease Category":["Cancer","Genetics","Endocrine"],"Cause":["Genetics"],"Account":["Pituitary deficiency"]},"synonyms":["chordoma (disease)"," chordoma, malignant"," notochordal sarcoma"," notochordoma"],"spanishId":13150,"spanishName":"cordoma"}