{"Name":"Non-distal monosomy 12q","DiseaseID__c":"GARD:0019330","id":19330,"encodedName":"non-distal-monosomy-12q","IsDeleted":false,"Disease_Name_Full__c":"Non-distal monosomy 12q","Xref_IDs__c":"782694003; C5190525; MEDGEN:1679764; MONDO:0019900; ORPHA:96160","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:96160","Disease_Description__c":"Non-distal monosomy 12q is a partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.","GARD_Name__c":"Non-distal monosomy 12q","GARD_Synonym__c":"non-distal deletion 12q; non-distal monosomy type 12q; non-telomeric monosomy 12q","Curated_Disease_Description_Source__c":"ORPHA:96160","Curated_Disease_Description__c":"A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:96160","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019900","ORPHANET_ID__c":"ORPHA:96160","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de deleción intersticial 12q","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de deleción intersticial 12q","Spanish_GARD_Synonym__c":"deleción no distal  12q; monosomía intersticial 12q; monosomía no terminal 12q","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":"A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.","Curated_Disease_Description_Source__c":"ORPHA:96160","GARD_Synonym__c":"non-distal deletion 12q; non-distal monosomy type 12q; non-telomeric monosomy 12q","Name":"Non-distal monosomy 12q","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"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":"Neonatal","Provided_By__c":"ORPHA:96160"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190525","Source__c":"C5190525","Xref__c":"C5190525"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1679764","Source__c":"C5190525","Xref__c":"MEDGEN:1679764"},{"URL__c":"https://www.orpha.net/en/disease/detail/96160","Source__c":"C5190525; MONDO:0019900; ORPHA:96160","Xref__c":"ORPHA:96160"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019900","Source__c":"GARD:0019330","Xref__c":"MONDO:0019900"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782694003","Source__c":"C5190525","Xref__c":"782694003"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["non-distal deletion 12q"," non-distal monosomy type 12q"," non-telomeric monosomy 12q"]}