{"Name":"Chromosome 8Q12.1-q21.2 deletion syndrome","DiseaseID__c":"GARD:0010002","id":10002,"encodedName":"chromosome-8q121-q212-deletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Chromosome 8Q12.1-q21.2 deletion syndrome","Xref_IDs__c":"C1838346; C536574; MEDGEN:333071; MONDO:0010852; OMIM:600257","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":0,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C1838346","Disease_Description__c":null,"GARD_Name__c":"Chromosome 8Q12.1-q21.2 deletion syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MEDGEN:C1838346","Curated_Disease_Description__c":null,"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:0010852","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_Source__c":"MEDGEN:C1838346","Name":"Chromosome 8Q12.1-q21.2 deletion syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1838346"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333071","Source__c":"C1838346","Xref__c":"MEDGEN:333071"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838346","Source__c":"C1838346","Xref__c":"C1838346"},{"URL__c":"https://www.omim.org/entry/600257","Source__c":"C1838346; MONDO:0010852","Xref__c":"OMIM:600257"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536574","Source__c":"MONDO:0010852","Xref__c":"C536574"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010852","Source__c":"GARD:0010002","Xref__c":"MONDO:0010852"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600257","Feature__r":{"HPO_Description__c":"A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034342","HPO_Name__c":"Trapezius muscle aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600257","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600257","Feature__r":{"HPO_Description__c":"A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009921","HPO_Synonym__c":"Limited eye motility from Duane anomaly; Limited eye movement from Duane anomaly","HPO_Name__c":"Duane anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600257","Feature__r":{"HPO_Description__c":"An abnormality of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000598","HPO_Synonym__c":"Abnormality of the ear; Ear anomaly","HPO_Name__c":"Abnormality of the ear","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":[""]}