{"Name":"Torticollis","DiseaseID__c":"GARD:0004908","id":4908,"encodedName":"torticollis","IsDeleted":false,"Disease_Name_Full__c":"Torticollis","Xref_IDs__c":"268240006; 70070008; C0040485; C182201; C4811; C535425; D014103; HP:0000473; MEDGEN:11859; MONDO:0008583; OMIM:189600","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008583","Disease_Description__c":"A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.","GARD_Name__c":"Torticollis","GARD_Synonym__c":"cervical dystonia; congenital torticollis; contracture of neck; fibromatosis colli; inherited torticollis; inherited torticollis (disease); loxia; wry neck","Curated_Disease_Description_Source__c":"MONDO:0008583","Curated_Disease_Description__c":"A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008583","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.","Curated_Disease_Description_Source__c":"MONDO:0008583","GARD_Synonym__c":"cervical dystonia; congenital torticollis; contracture of neck; fibromatosis colli; inherited torticollis; inherited torticollis (disease); loxia; wry neck","Name":"Torticollis","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=11859","Source__c":"C0040485","Xref__c":"MEDGEN:11859"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=70070008","Source__c":"C0040485; MONDO:0008583","Xref__c":"70070008"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=268240006","Source__c":"MONDO:0008583","Xref__c":"268240006"},{"URL__c":"https://www.omim.org/entry/189600","Source__c":"C0040485; MONDO:0008583","Xref__c":"OMIM:189600"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4811","Source__c":"MONDO:0008583","Xref__c":"C4811"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0040485","Source__c":"C0040485","Xref__c":"C0040485"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535425","Source__c":"MONDO:0008583","Xref__c":"C535425"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C014103","Source__c":"C0040485","Xref__c":"D014103"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000473","Source__c":"C0040485","Xref__c":"HP:0000473"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008583","Source__c":"GARD:0004908","Xref__c":"MONDO:0008583"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C182201","Source__c":"C0040485","Xref__c":"C182201"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:189600","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:189600","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer"]},"synonyms":["cervical dystonia"," congenital torticollis"," contracture of neck"," fibromatosis colli"," inherited torticollis"," inherited torticollis (disease)"," loxia"," wry neck"]}