{"Name":"Amelogenesis imperfecta type 1","DiseaseID__c":"GARD:0000645","id":645,"encodedName":"amelogenesis-imperfecta-type-1","IsDeleted":false,"Disease_Name_Full__c":"Amelogenesis imperfecta type 1","Xref_IDs__c":"109476006; C0399367; MEDGEN:97992; MONDO:0015047; ORPHA:100031","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:100031","Disease_Description__c":null,"GARD_Name__c":"Amelogenesis imperfecta type 1","GARD_Synonym__c":"amelogenesis imperfecta - hypoplastic; amelogenesis imperfecta, hypoplastic type; hypoplastic amelogenesis imperfecta","Curated_Disease_Description_Source__c":"OMIM:104530","Curated_Disease_Description__c":"Hypoplastic amelogenesis imperfecta is characterized by enamel that may not develop to normal thickness. The enamel may have pits and grooves or be completely absent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:100031","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015047","ORPHANET_ID__c":"ORPHA:100031","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amelogénesis imperfecta hipoplásica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"amelogénesis imperfecta hipoplásica","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":"Hypoplastic amelogenesis imperfecta is characterized by enamel that may not develop to normal thickness. The enamel may have pits and grooves or be completely absent.","Curated_Disease_Description_Source__c":"OMIM:104530","GARD_Synonym__c":"amelogenesis imperfecta - hypoplastic; amelogenesis imperfecta, hypoplastic type; hypoplastic amelogenesis imperfecta","Name":"Amelogenesis imperfecta type 1","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/0000645","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=97992","Source__c":"C0399367","Xref__c":"MEDGEN:97992"},{"URL__c":"https://www.orpha.net/en/disease/detail/100031","Source__c":"C0399367; MONDO:0015047; ORPHA:100031","Xref__c":"ORPHA:100031"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109476006","Source__c":"C0399367; MONDO:0015047","Xref__c":"109476006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0399367","Source__c":"C0399367","Xref__c":"C0399367"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015047","Source__c":"GARD:0000645","Xref__c":"MONDO:0015047"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AMBN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ITGB6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LAMB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lamb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SP6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ACP4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ENAM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/enam","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Odontology"]},"synonyms":["amelogenesis imperfecta - hypoplastic"," amelogenesis imperfecta, hypoplastic type"," hypoplastic amelogenesis imperfecta"]}