{"Name":"Amelogenesis imperfecta type 1E","DiseaseID__c":"GARD:0009943","id":9943,"encodedName":"amelogenesis-imperfecta-type-1e","IsDeleted":false,"Disease_Name_Full__c":"Amelogenesis imperfecta type 1E","Xref_IDs__c":"C1845053; DOID:0110058; MEDGEN:336847; MONDO:0010521; OMIM:301200","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010521","Disease_Description__c":"Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.","GARD_Name__c":"Amelogenesis imperfecta type 1E","GARD_Synonym__c":"aih1; amelogenesis imperfecta caused by mutation in amelx; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; amelogenesis imperfecta type ie; amelogenesis imperfecta x-linked 1; amelogenesis imperfecta, hypomaturation type, with snow-capped teeth; amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1; amelogenesis imperfecta, type 1e, x-linked dominant; amelx amelogenesis imperfecta; enamel hypoplasia x-linked; enamel hypoplasia, x-linked 1; x-linked amelogenesis imperfecta 1; x-linked amelogenesis imperfecta hypoplastic/hypomaturation 1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Amelogenesis imperfecta, type IE is a genetic condition that causes defects in the tooth enamel. This is a hypoplastic type of amelogenesis imperfecta where the enamel thickness and hardness varies. In some cases, the teeth look small. The enamel can also have different textures, like smooth or rough. This can be seen on X-rays, where the enamel looks different from the rest of the tooth. Amelogenesis imperfecta, type IE is caused by changes in the AMELX gene. It follows an X-linked pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:301200","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010521","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Amelogenesis imperfecta, type IE is a genetic condition that causes defects in the tooth enamel. This is a hypoplastic type of amelogenesis imperfecta where the enamel thickness and hardness varies. In some cases, the teeth look small. The enamel can also have different textures, like smooth or rough. This can be seen on X-rays, where the enamel looks different from the rest of the tooth. Amelogenesis imperfecta, type IE is caused by changes in the AMELX gene. It follows an X-linked pattern of inheritance.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"aih1; amelogenesis imperfecta caused by mutation in amelx; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; amelogenesis imperfecta type ie; amelogenesis imperfecta x-linked 1; amelogenesis imperfecta, hypomaturation type, with snow-capped teeth; amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1; amelogenesis imperfecta, type 1e, x-linked dominant; amelx amelogenesis imperfecta; enamel hypoplasia x-linked; enamel hypoplasia, x-linked 1; x-linked amelogenesis imperfecta 1; x-linked amelogenesis imperfecta hypoplastic/hypomaturation 1","Name":"Amelogenesis imperfecta type 1E","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009943","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/301200","Source__c":"C1845053; MONDO:0010521","Xref__c":"OMIM:301200"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845053","Source__c":"C1845053","Xref__c":"C1845053"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110058","Source__c":"MONDO:0010521","Xref__c":"DOID:0110058"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336847","Source__c":"C1845053","Xref__c":"MEDGEN:336847"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010521","Source__c":"GARD:0009943","Xref__c":"MONDO:0010521"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AMELX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/amelx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:301200","Feature__r":{"HPO_Description__c":"A developmental dysplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000705","HPO_Name__c":"Amelogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009102","HPO_Synonym__c":"Absence of overlap of anterior upper and lower teeth; Anterior open bite; Anterior open bite between upper and lower teeth; Anterior openbite; AOB; Apertognathia malocclusion; Gap between upper and lower front teeth when biting","HPO_Name__c":"Anterior open-bite malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:301200","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["aih1"," amelogenesis imperfecta caused by mutation in amelx"," amelogenesis imperfecta hypomaturationtype with snow-capped teeth"," amelogenesis imperfecta type ie"," amelogenesis imperfecta x-linked 1"," amelogenesis imperfecta, hypomaturation type, with snow-capped teeth"," amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1"," amelogenesis imperfecta, type 1e, x-linked dominant"," amelx amelogenesis imperfecta"," enamel hypoplasia x-linked"," enamel hypoplasia, x-linked 1"," x-linked amelogenesis imperfecta 1"," x-linked amelogenesis imperfecta hypoplastic/hypomaturation 1"]}