{"Name":"4q25 proximal deletion syndrome","DiseaseID__c":"GARD:0022048","id":22048,"encodedName":"4q25-proximal-deletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"4q25 proximal deletion syndrome","Xref_IDs__c":"1251452003; C5680087; MEDGEN:1814447; MONDO:0044717; ORPHA:502437","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:502437","Disease_Description__c":"A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.","GARD_Name__c":"4q25 proximal deletion syndrome","GARD_Synonym__c":"proximal del(4)(q25); proximal monosomy 4q25","Curated_Disease_Description_Source__c":"ORPHA:502437","Curated_Disease_Description__c":"A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:502437","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044717","ORPHANET_ID__c":"ORPHA:502437","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de deleción proximal 4q25","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de deleción proximal 4q25","Spanish_GARD_Synonym__c":"del(4)(q25) proximal; monosomía proximal 4q25","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 deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.","Curated_Disease_Description_Source__c":"ORPHA:502437","GARD_Synonym__c":"proximal del(4)(q25); proximal monosomy 4q25","Name":"4q25 proximal deletion 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":"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":"Infancy","Provided_By__c":"ORPHA:502437"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/502437","Source__c":"C5680087; MONDO:0044717; ORPHA:502437","Xref__c":"ORPHA:502437"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680087","Source__c":"C5680087","Xref__c":"C5680087"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814447","Source__c":"C5680087","Xref__c":"MEDGEN:1814447"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1251452003","Source__c":"C5680087","Xref__c":"1251452003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044717","Source__c":"GARD:0022048","Xref__c":"MONDO:0044717"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["proximal del(4)(q25)"," proximal monosomy 4q25"]}