{"Name":"Distal monosomy 4q","DiseaseID__c":"GARD:0019327","id":19327,"encodedName":"distal-monosomy-4q","IsDeleted":false,"Disease_Name_Full__c":"Distal monosomy 4q","Xref_IDs__c":"782673001; C5190514; MEDGEN:1680190; MONDO:0019895; ORPHA:96145","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":2,"Description_Source__c":"ORPHA:96145","Disease_Description__c":"Distal monosomy 4q is a partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.","GARD_Name__c":"Distal monosomy 4q","GARD_Synonym__c":"distal deletion 4q; distal monosomy type 4q; monosomy 4qter; telomeric deletion 4q","Curated_Disease_Description_Source__c":"ORPHA:96145","Curated_Disease_Description__c":"A rare partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:96145","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019895","ORPHANET_ID__c":"ORPHA:96145","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de deleción terminal 4q","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de deleción terminal 4q","Spanish_GARD_Synonym__c":"monosomía 4qter; monosomía terminal 4q","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 variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.","Curated_Disease_Description_Source__c":"ORPHA:96145","GARD_Synonym__c":"distal deletion 4q; distal monosomy type 4q; monosomy 4qter; telomeric deletion 4q","Name":"Distal monosomy 4q","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":"Infancy","Provided_By__c":"ORPHA:96145"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96145"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190514","Source__c":"C5190514","Xref__c":"C5190514"},{"URL__c":"https://www.orpha.net/en/disease/detail/96145","Source__c":"C5190514; MONDO:0019895; ORPHA:96145","Xref__c":"ORPHA:96145"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1680190","Source__c":"C5190514","Xref__c":"MEDGEN:1680190"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782673001","Source__c":"C5190514","Xref__c":"782673001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019895","Source__c":"GARD:0019327","Xref__c":"MONDO:0019895"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal deletion 4q"," distal monosomy type 4q"," monosomy 4qter"," telomeric deletion 4q"]}