{"Name":"Distal monosomy 7p","DiseaseID__c":"GARD:0019325","id":19325,"encodedName":"distal-monosomy-7p","IsDeleted":false,"Disease_Name_Full__c":"Distal monosomy 7p","Xref_IDs__c":"C5190515; MEDGEN:1683031; MONDO:0019892; ORPHA:96126","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:96126","Disease_Description__c":"Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.","GARD_Name__c":"Distal monosomy 7p","GARD_Synonym__c":"distal deletion 7p; distal monosomy 7p syndrome; distal monosomy type 7p; monosomy 7pter; telomeric deletion 7p","Curated_Disease_Description_Source__c":"ORPHA:96126","Curated_Disease_Description__c":"Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:96126","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019892","ORPHANET_ID__c":"ORPHA:96126","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de deleción terminal 7p","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de deleción terminal 7p","Spanish_GARD_Synonym__c":"monosomía 7pter; monosomía terminal 7p","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":"Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.","Curated_Disease_Description_Source__c":"ORPHA:96126","GARD_Synonym__c":"distal deletion 7p; distal monosomy 7p syndrome; distal monosomy type 7p; monosomy 7pter; telomeric deletion 7p","Name":"Distal monosomy 7p","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:96126"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96126"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1683031","Source__c":"C5190515","Xref__c":"MEDGEN:1683031"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190515","Source__c":"C5190515","Xref__c":"C5190515"},{"URL__c":"https://www.orpha.net/en/disease/detail/96126","Source__c":"C5190515; MONDO:0019892; ORPHA:96126","Xref__c":"ORPHA:96126"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019892","Source__c":"GARD:0019325","Xref__c":"MONDO:0019892"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782674007","Source__c":"C5190515","Xref__c":"782674007"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal deletion 7p"," distal monosomy 7p syndrome"," distal monosomy type 7p"," monosomy 7pter"," telomeric deletion 7p"]}