{"Name":"1p35.2 microdeletion syndrome","DiseaseID__c":"GARD:0021898","id":21898,"encodedName":"1p352-microdeletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"1p35.2 microdeletion syndrome","Xref_IDs__c":"1228844002; C5679992; MEDGEN:1807819; MONDO:0018697; ORPHA:456298","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:456298","Disease_Description__c":"A very rare, chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.","GARD_Name__c":"1p35.2 microdeletion syndrome","GARD_Synonym__c":"del(1)(p35.2); deletion 1p35.2; monosomy 1p35.2","Curated_Disease_Description_Source__c":"ORPHA:456298","Curated_Disease_Description__c":"A very rare, chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognizable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:456298","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018697","ORPHANET_ID__c":"ORPHA:456298","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microdeleción 1p35.2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de microdeleción 1p35.2","Spanish_GARD_Synonym__c":"del(1)(p35.2); deleción 1p35.2; monosomía 1p35.2","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 very rare, chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognizable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.","Curated_Disease_Description_Source__c":"ORPHA:456298","GARD_Synonym__c":"del(1)(p35.2); deletion 1p35.2; monosomy 1p35.2","Name":"1p35.2 microdeletion syndrome","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:456298"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679992","Source__c":"C5679992","Xref__c":"C5679992"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1807819","Source__c":"C5679992","Xref__c":"MEDGEN:1807819"},{"URL__c":"https://www.orpha.net/en/disease/detail/456298","Source__c":"C5679992; MONDO:0018697; ORPHA:456298","Xref__c":"ORPHA:456298"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1228844002","Source__c":"C5679992","Xref__c":"1228844002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018697","Source__c":"GARD:0021898","Xref__c":"MONDO:0018697"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["del(1)(p35.2)"," deletion 1p35.2"," monosomy 1p35.2"]}