{"Name":"Fibromatosis, gingival, 1","DiseaseID__c":"GARD:0006509","id":6509,"encodedName":"fibromatosis-gingival-1","IsDeleted":false,"Disease_Name_Full__c":"Fibromatosis, gingival, 1","Xref_IDs__c":"C4551558; MEDGEN:1647111; MONDO:0007609","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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007609","Disease_Description__c":"Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.","GARD_Name__c":"Fibromatosis, gingival, 1","GARD_Synonym__c":"fibromatosis, gingival, type 1; gingf1; gingival fibromatosis caused by mutation in sos1; hereditary gingival fibromatosis caused by mutation in sos1; sos1 gingival fibromatosis; sos1 hereditary gingival fibromatosis","Curated_Disease_Description_Source__c":"MEDGEN:C0399440","Curated_Disease_Description__c":"Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by Hart et al., 2002).Genetic Heterogeneity of Hereditary Gingival FibromatosisOther loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; 605544), chromosome 2p23.3-p22.3 (GINGF3; 609955), and chromosome 11p15 (GINGF4; 611010). GINGF5 (617626) is caused by mutation in the REST gene (600571) on chromosome 4q12. There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:135300","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007609","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":"Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by Hart et al., 2002).Genetic Heterogeneity of Hereditary Gingival FibromatosisOther loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; 605544), chromosome 2p23.3-p22.3 (GINGF3; 609955), and chromosome 11p15 (GINGF4; 611010). GINGF5 (617626) is caused by mutation in the REST gene (600571) on chromosome 4q12. There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING).","Curated_Disease_Description_Source__c":"MEDGEN:C0399440","GARD_Synonym__c":"fibromatosis, gingival, type 1; gingf1; gingival fibromatosis caused by mutation in sos1; hereditary gingival fibromatosis caused by mutation in sos1; sos1 gingival fibromatosis; sos1 hereditary gingival fibromatosis","Name":"Fibromatosis, gingival, 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"RASopathies Network","Website__c":"https://rasopathiesnet.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0399440"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006509","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1647111","Source__c":"C4551558","Xref__c":"MEDGEN:1647111"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551558","Source__c":"C4551558","Xref__c":"C4551558"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007609","Source__c":"GARD:0006509","Xref__c":"MONDO:0007609"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SOS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sos1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["fibromatosis, gingival, type 1"," gingf1"," gingival fibromatosis caused by mutation in sos1"," hereditary gingival fibromatosis caused by mutation in sos1"," sos1 gingival fibromatosis"," sos1 hereditary gingival fibromatosis"]}