{"Name":"Amelogenesis imperfecta type 2","DiseaseID__c":"GARD:0008349","id":8349,"encodedName":"amelogenesis-imperfecta-type-2","IsDeleted":false,"Disease_Name_Full__c":"Amelogenesis imperfecta type 2","Xref_IDs__c":"109475005; C0399372; C536606; MEDGEN:97994; MONDO:0015048; ORPHA:100033","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:100033","Disease_Description__c":null,"GARD_Name__c":"Amelogenesis imperfecta type 2","GARD_Synonym__c":"amelogenesis imperfecta - hypomaturation; amelogenesis imperfecta hypomaturation type; amelogenesis imperfecta, hypomaturation type; hypomaturation amelogenesis imperfecta","Curated_Disease_Description_Source__c":"OMIM:204700","Curated_Disease_Description__c":"Hypomaturation amelogenesis imperfecta is a rare genetic dental disorder. It is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:100033","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015048","ORPHANET_ID__c":"ORPHA:100033","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amelogénesis imperfecta tipo hipomaduración","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"amelogénesis imperfecta tipo hipomaduración","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98026","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":"Hypomaturation amelogenesis imperfecta is a rare genetic dental disorder. It is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin.","Curated_Disease_Description_Source__c":"OMIM:204700","GARD_Synonym__c":"amelogenesis imperfecta - hypomaturation; amelogenesis imperfecta hypomaturation type; amelogenesis imperfecta, hypomaturation type; hypomaturation amelogenesis imperfecta","Name":"Amelogenesis imperfecta type 2","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Odontology","Tag_Category__c":"Specialist"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008349","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/100033","Source__c":"C0399372; MONDO:0015048; ORPHA:100033","Xref__c":"ORPHA:100033"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109475005","Source__c":"C0399372; MONDO:0015048","Xref__c":"109475005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=97994","Source__c":"C0399372","Xref__c":"MEDGEN:97994"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0399372","Source__c":"C0399372","Xref__c":"C0399372"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536606","Source__c":"MONDO:0015048","Xref__c":"C536606"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015048","Source__c":"GARD:0008349","Xref__c":"MONDO:0015048"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC24A4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ODAPH","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KLK4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"WDR72","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MMP20","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mmp20","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AMELX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/amelx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GPR68","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology"]},"synonyms":["amelogenesis imperfecta - hypomaturation"," amelogenesis imperfecta hypomaturation type"," amelogenesis imperfecta, hypomaturation type"," hypomaturation amelogenesis imperfecta"]}