{"Name":"Distal monosomy 12p","DiseaseID__c":"GARD:0021078","id":21078,"encodedName":"distal-monosomy-12p","IsDeleted":false,"Disease_Name_Full__c":"Distal monosomy 12p","Xref_IDs__c":"770902008; C4749581; MEDGEN:1648932; MONDO:0017229; ORPHA:280325","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017229","Disease_Description__c":"A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.","GARD_Name__c":"Distal monosomy 12p","GARD_Synonym__c":"12p13.33 microdeletion syndrome; del(12)(p13.33); distal deletion 12p; distal monosomy type 12p","Curated_Disease_Description_Source__c":"ORPHA:280325","Curated_Disease_Description__c":"A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavioral abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:280325","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017229","ORPHANET_ID__c":"ORPHA:280325","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de deleción terminal 12p","Spanish_Description_Source__c":"ORPHA:280325","Spanish_Description__c":"Es una monosomía autosómica parcial poco frecuente caracterizada por retraso en el desarrollo del lenguaje con apraxia del habla en edad infantil, leve discapacidad intelectual, anomalías conductuales (trastorno del espectro autista, trastorno por déficit de atención e hiperactividad, ansiedad) así como rasgos ligeramente dismórficos inespecíficos. Otros hallazgos clínicos adicionales pueden incluir hipotonía muscular y laxitud articular, hernias y microcefalia.","Spanish_Disease_Name__c":"síndrome de deleción terminal 12p","Spanish_GARD_Synonym__c":"del(12)(p13.33); monosomía terminal 12p; síndrome de microdeleción 12p13.33","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 rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavioral abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.","Curated_Disease_Description_Source__c":"ORPHA:280325","GARD_Synonym__c":"12p13.33 microdeletion syndrome; del(12)(p13.33); distal deletion 12p; distal monosomy type 12p","Name":"Distal monosomy 12p","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:280325"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:280325"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/280325","Source__c":"C4749581; MONDO:0017229; ORPHA:280325","Xref__c":"ORPHA:280325"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648932","Source__c":"C4749581","Xref__c":"MEDGEN:1648932"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749581","Source__c":"C4749581","Xref__c":"C4749581"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017229","Source__c":"GARD:0021078","Xref__c":"MONDO:0017229"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770902008","Source__c":"C4749581","Xref__c":"770902008"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["12p13.33 microdeletion syndrome"," del(12)(p13.33)"," distal deletion 12p"," distal monosomy type 12p"]}