{ "batchid": 11, "recordid": "P06280-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "rs2147470791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147470791" } ], "glycoeffect": [], "start_pos": 380, "end_pos": 380, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397961", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P380", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs869312232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312232" }, { "id": "rs869312232", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312232" } ], "glycoeffect": [], "start_pos": 381, "end_pos": 381, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397958", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "rs2520850848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520850848" } ], "glycoeffect": [], "start_pos": 381, "end_pos": 381, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397957", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A381", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:4455", "DOID:3675" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs113993943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113993943" } ], "glycoeffect": [], "start_pos": 382, "end_pos": 382, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397954", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C382", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs113993943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113993943" }, { "id": "rs113993943", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs113993943" } ], "glycoeffect": [], "start_pos": 382, "end_pos": 382, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397954", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C382", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2520850775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520850775" } ], "glycoeffect": [], "start_pos": 383, "end_pos": 383, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397952", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F383", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1057519609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057519609" }, { "id": "8834244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8834244" } ], "glycoeffect": [], "start_pos": 383, "end_pos": 383, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397951_101397953", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F383", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1928132914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928132914" }, { "id": "rs1928132914", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928132914" } ], "glycoeffect": [], "start_pos": 384, "end_pos": 384, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398023", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I384", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs397515869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397515869" }, { "id": "rs397515869", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs397515869" }, { "id": "rs397515869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397515869" }, { "id": "rs397515869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs397515869#frequency_tab" }, { "id": "rs397515869", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs397515869" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 385, "end_pos": 385, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397946", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T385", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1555984780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984780" }, { "id": "rs1555984780", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984780" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 385, "end_pos": 385, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397945", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T385", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1555984780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984780" }, { "id": "rs1555984780", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984780" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 385, "end_pos": 385, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397945", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T385", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs869312233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312233" }, { "id": "rs869312233", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312233" } ], "glycoeffect": [], "start_pos": 386, "end_pos": 386, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397943", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q386", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs797044775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044775" }, { "id": "rs797044775", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs797044775" } ], "glycoeffect": [], "start_pos": 386, "end_pos": 386, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397942", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q386", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1555984777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984777" }, { "id": "rs1555984777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984777" } ], "glycoeffect": [], "start_pos": 387, "end_pos": 387, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397940", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L387", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312234" }, { "id": "rs869312234", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312234" } ], "glycoeffect": [], "start_pos": 387, "end_pos": 387, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397939", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L387", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1569302626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569302626" }, { "id": "rs1569302626", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1569302626" } ], "glycoeffect": [], "start_pos": 388, "end_pos": 388, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397937", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L388", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1928137855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928137855" } ], "glycoeffect": [], "start_pos": 388, "end_pos": 388, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398060", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L388", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2520850302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520850302" } ], "glycoeffect": [], "start_pos": 389, "end_pos": 389, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397934", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P389", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2520850221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520850221" } ], "glycoeffect": [], "start_pos": 389, "end_pos": 389, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397933", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P389", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2520850221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520850221" } ], "glycoeffect": [], "start_pos": 389, "end_pos": 389, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397933", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P389", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs886044846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886044846" } ], "glycoeffect": [], "start_pos": 389, "end_pos": 389, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397935", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P389", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs730880446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880446" }, { "id": "rs730880446", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs730880446" } ], "glycoeffect": [], "start_pos": 38, "end_pos": 38, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407792", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R38", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs869312231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312231" }, { "id": "rs869312231", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312231" } ], "glycoeffect": [], "start_pos": 38, "end_pos": 38, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407791", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R38", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555984776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984776" }, { "id": "rs1555984776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984776" } ], "glycoeffect": [], "start_pos": 390, "end_pos": 390, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397931", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V390", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1928122706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928122706" }, { "id": "rs1928122706", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928122706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 391, "end_pos": 391, "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397928", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" } ], "glycoeffect": [], "start_pos": 392, "end_pos": 392, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "M", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397924", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R392", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs869312165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312165" }, { "id": "rs869312165", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312165" } ], "glycoeffect": [], "start_pos": 392, "end_pos": 392, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397923", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R392", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs782756052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782756052" }, { "id": "rs782756052", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782756052" }, { "id": "rs782756052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782756052" } ], "glycoeffect": [], "start_pos": 392, "end_pos": 392, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397924", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R392", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs886044779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886044779" }, { "id": "rs886044779", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs886044779#frequency_tab" }, { "id": "rs886044779", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs886044779" } ], "glycoeffect": [], "start_pos": 394, "end_pos": 394, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397918", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L394", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs375661583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375661583" }, { "id": "rs375661583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375661583" }, { "id": "rs375661583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375661583#frequency_tab" }, { "id": "rs375661583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375661583" } ], "glycoeffect": [], "start_pos": 395, "end_pos": 395, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G395", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "start_pos": 395, "end_pos": 395, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397916", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G395", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "start_pos": 396, "end_pos": 396, "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397911", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F396", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312236" }, { "id": "rs869312236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs869312236#frequency_tab" }, { "id": "rs869312236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs869312236" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 397, "end_pos": 397, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397908", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2147470653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147470653" }, { "id": "rs2147470653", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2147470653" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 397, "end_pos": 397, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397909", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y397", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs879253955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879253955" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 397, "end_pos": 397, "sequence_org": "Y", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397911", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y397", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs104894844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894844" }, { "id": "rs104894844", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104894844#frequency_tab" }, { "id": "rs104894844", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104894844" }, { "id": "7504405", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7504405" } ], "glycoeffect": [], "start_pos": 398, "end_pos": 398, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397907", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E398", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2520849604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520849604" } ], "glycoeffect": [], "start_pos": 398, "end_pos": 398, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397906", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E398", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs104894844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894844" }, { "id": "rs104894844", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs104894844#frequency_tab" }, { "id": "rs104894844", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104894844" } ], "glycoeffect": [], "start_pos": 398, "end_pos": 398, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397907", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E398", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "rs104894844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894844" } ], "glycoeffect": [], "start_pos": 398, "end_pos": 398, "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "Q", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397907", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E398", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:4455", "DOID:3675" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs868946734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868946734" }, { "id": "rs868946734", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868946734" } ], "glycoeffect": [], "start_pos": 399, "end_pos": 399, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397902", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W399", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782449839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782449839" }, { "id": "rs782449839", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs782449839" }, { "id": "rs782449839", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782449839" }, { "id": "rs782449839", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782449839#frequency_tab" }, { "id": "rs782449839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782449839" } ], "glycoeffect": [], "start_pos": 399, "end_pos": 399, "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397903", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W399", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782449839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782449839" }, { "id": "rs782449839", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs782449839" }, { "id": "rs782449839", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782449839" }, { "id": "rs782449839", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782449839#frequency_tab" }, { "id": "rs782449839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782449839" } ], "glycoeffect": [], "start_pos": 399, "end_pos": 399, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397903", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W399", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080326" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080326" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080326" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080326" } ] }, { "disease_id": "DOID:0080326", "recommended_name": { "id": "DOID:0080326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080326", "name": "familial hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." }, "synonyms": [ { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080326" } ] }, { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 19", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" } ] }, { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 19", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" } ] }, { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 19", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" } ] }, { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 19", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" } ] }, { "disease_id": "DOID:0110307", "recommended_name": { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "CMH1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "DOID:0110307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110307", "name": "hypertrophic cardiomyopathy 19", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "CMH1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "Cmh", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "hypertrophic subaortic stenosis, idiopathic", "description": "" }, { "id": "MONDO:0008647", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "name": "ventricular Hypertrophy, hereditary", "description": "" }, { "id": "MIM:192600", "resource": "MIM", "url": "https://www.omim.org/entry/192600", "name": "Cardiomyopathy, familial hypertrophic", "description": "Cardiomyopathy, familial hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "rs201819574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201819574" }, { "id": "rs201819574", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201819574" }, { "id": "rs201819574", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201819574" }, { "id": "rs201819574", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201819574" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 39, "end_pos": 39, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101407788", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T39", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs201819574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201819574" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 39, "end_pos": 39, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407788", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T39", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2147487313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147487313" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 39, "end_pos": 39, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407785_101407788", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T39", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs150547672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150547672" }, { "id": "rs150547672", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150547672" }, { "id": "rs150547672", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150547672" }, { "id": "rs150547672", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150547672#frequency_tab" }, { "id": "rs150547672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150547672" } ], "glycoeffect": [], "start_pos": 3, "end_pos": 3, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407896", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ] }, { "evidence": [ { "id": "rs869312133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312133" }, { "id": "rs869312133", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312133" } ], "glycoeffect": [], "start_pos": 3, "end_pos": 3, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407897", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L3", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2147470521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147470521" }, { "id": "rs2147470521", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2147470521" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 400, "end_pos": 400, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397865", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T400", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2147470514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147470514" }, { "id": "rs2147470514", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2147470514" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 400, "end_pos": 400, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397864", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T400", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ] }, { "evidence": [ { "id": "rs2520849314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520849314" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 401, "end_pos": 401, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397897", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S401", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1928120091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928120091" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 401, "end_pos": 401, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397899", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S401", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "start_pos": 402, "end_pos": 402, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "M", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397894", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R402", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" } ], "glycoeffect": [], "start_pos": 403, "end_pos": 403, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397892", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L403", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs112341092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112341092" }, { "id": "rs112341092", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs112341092" } ], "glycoeffect": [], "start_pos": 403, "end_pos": 403, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397855", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L403", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs112341092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112341092" }, { "id": "rs112341092", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs112341092" } ], "glycoeffect": [], "start_pos": 403, "end_pos": 403, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397855", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L403", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312241" }, { "id": "7504405", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7504405" }, { "id": "rs2520849107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520849107" } ], "glycoeffect": [], "start_pos": 404, "end_pos": 404, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397885CTT", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R404", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 405, "end_pos": 405, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397885", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S405", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs869312243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312243" }, { "id": "rs869312243", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312243" } ], "glycoeffect": [], "start_pos": 408, "end_pos": 408, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397877", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs878853698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs878853698" }, { "id": "rs878853698", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs878853698" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 409, "end_pos": 409, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397874", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P409", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs869312245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312245" }, { "id": "rs869312245", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312245" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 409, "end_pos": 409, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397873", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 409, "end_pos": 409, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPT->NLT).", "chr_id": "23", "chr_pos": "101397873", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P409", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs878853698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs878853698" }, { "id": "rs878853698", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs878853698" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 409, "end_pos": 409, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397874", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P409", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs104894831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894831" } ], "glycoeffect": [], "start_pos": 40, "end_pos": 40, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407786", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P40", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs398123199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123199" }, { "id": "rs398123199", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs398123199" } ], "glycoeffect": [], "start_pos": 40, "end_pos": 40, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407785", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P40", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs398123199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123199" }, { "id": "rs398123199", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs398123199" } ], "glycoeffect": [], "start_pos": 40, "end_pos": 40, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407785", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P40", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs104894831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894831" }, { "id": "rs104894831", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104894831" }, { "id": "2152885", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2152885" } ], "glycoeffect": [], "start_pos": 40, "end_pos": 40, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407786", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P40", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs104894852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894852" }, { "id": "rs104894852", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104894852" }, { "id": "12694230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12694230" }, { "id": "rs397515869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397515869" }, { "id": "rs397515869", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs397515869" }, { "id": "rs397515869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs397515869" }, { "id": "rs397515869", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs397515869#frequency_tab" }, { "id": "rs397515869", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs397515869" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 410, "end_pos": 410, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397871", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T410", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1555984780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984780" }, { "id": "rs1555984780", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984780" }, { "id": "rs730880442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880442" }, { "id": "rs730880442", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs730880442" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 410, "end_pos": 410, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397945", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T410", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1555984780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984780" }, { "id": "rs1555984780", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984780" }, { "id": "rs730880442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880442" }, { "id": "rs730880442", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs730880442" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 410, "end_pos": 410, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397945", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T410", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2520848719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520848719" } ], "glycoeffect": [], "start_pos": 411, "end_pos": 411, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397868", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G411", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2147470521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147470521" }, { "id": "rs2147470521", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2147470521" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 412, "end_pos": 412, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397865", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T412", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "rs2147470514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147470514" }, { "id": "rs2147470514", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2147470514" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 412, "end_pos": 412, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397864", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T412", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs797044777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044777" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 412, "end_pos": 412, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397863_101397864", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T412", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2520848483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520848483" } ], "glycoeffect": [], "start_pos": 413, "end_pos": 413, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397861", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782430535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782430535" }, { "id": "rs782430535", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782430535" }, { "id": "rs782430535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782430535" } ], "glycoeffect": [], "start_pos": 413, "end_pos": 413, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397862", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312246" }, { "id": "rs869312246", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312246" } ], "glycoeffect": [], "start_pos": 414, "end_pos": 414, "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397858", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L414", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" } ], "glycoeffect": [], "start_pos": 414, "end_pos": 414, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397857", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L414", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs869312246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312246" }, { "id": "rs869312246", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312246" } ], "glycoeffect": [], "start_pos": 414, "end_pos": 414, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397858", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L414", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs112341092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112341092" }, { "id": "rs112341092", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs112341092" } ], "glycoeffect": [], "start_pos": 415, "end_pos": 415, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397855", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L415", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs112341092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112341092" }, { "id": "rs112341092", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs112341092" } ], "glycoeffect": [], "start_pos": 415, "end_pos": 415, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397855", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312247" }, { "id": "rs869312247", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312247" } ], "glycoeffect": [], "start_pos": 416, "end_pos": 416, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397853", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q416", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs398123200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123200" }, { "id": "rs398123200", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs398123200" } ], "glycoeffect": [], "start_pos": 416, "end_pos": 416, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397852", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q416", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1555984716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984716" }, { "id": "rs1555984716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984716" } ], "glycoeffect": [], "start_pos": 417, "end_pos": 417, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397814", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L417", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312251" }, { "id": "rs869312251", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312251" }, { "id": "rs869312248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312248" }, { "id": "rs869312248", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312248" } ], "glycoeffect": [], "start_pos": 417, "end_pos": 417, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397813", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L417", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1928115296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928115296" }, { "id": "rs1928115296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1928115296" } ], "glycoeffect": [], "start_pos": 418, "end_pos": 418, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397847", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E418", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs879254061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879254061" }, { "id": "rs879254061", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs879254061#frequency_tab" } ], "glycoeffect": [], "start_pos": 419, "end_pos": 419, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397844", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N419", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ] }, { "evidence": [ { "id": "rs1060500749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1060500749" }, { "id": "rs1060500749", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1060500749#frequency_tab" }, { "id": "rs1060500749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1060500749" } ], "glycoeffect": [], "start_pos": 419, "end_pos": 419, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397843", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N419", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs781943097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781943097" }, { "id": "rs781943097", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781943097" } ], "glycoeffect": [], "start_pos": 419, "end_pos": 419, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397842", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782362194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782362194" }, { "id": "rs782362194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782362194" }, { "id": "rs782362194", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782362194#frequency_tab" }, { "id": "rs782362194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782362194" } ], "glycoeffect": [], "start_pos": 41, "end_pos": 41, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407782", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T41", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1928114444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928114444" }, { "id": "rs1928114444", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928114444" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 420, "end_pos": 420, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397840", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T420", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs144060196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144060196" }, { "id": "rs144060196", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144060196" }, { "id": "rs144060196", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144060196#frequency_tab" }, { "id": "rs144060196", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144060196" } ], "glycoeffect": [], "start_pos": 421, "end_pos": 421, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397838", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M421", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1928113901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928113901" }, { "id": "rs1928113901", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928113901" } ], "glycoeffect": [], "start_pos": 422, "end_pos": 422, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397834", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q422", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2520847855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520847855" } ], "glycoeffect": [], "start_pos": 423, "end_pos": 423, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397830", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M423", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2520847821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520847821" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 424, "end_pos": 424, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397828", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S424", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" } ], "glycoeffect": [], "start_pos": 425, "end_pos": 425, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "*", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397825", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L425", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs781805900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781805900" }, { "id": "rs781805900", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781805900" }, { "id": "rs781805900", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781805900" }, { "id": "rs781805900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781805900" } ], "glycoeffect": [], "start_pos": 425, "end_pos": 425, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397824", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L425", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312249" }, { "id": "12796853", "database": "PubMed", "url": "" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 426, "end_pos": 426, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397823_101397824", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K426", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" } ], "glycoeffect": [], "start_pos": 427, "end_pos": 427, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "G", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397819", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D427", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "rs1555984721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984721" }, { "id": "rs1555984721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984721" } ], "glycoeffect": [], "start_pos": 427, "end_pos": 427, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397820", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D427", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555984720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984720" }, { "id": "rs1555984720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984720" } ], "glycoeffect": [], "start_pos": 427, "end_pos": 427, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397819", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D427", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "start_pos": 427, "end_pos": 427, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "23", "chr_pos": "101397820", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D427", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2147470388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147470388" }, { "id": "rs2147470388", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2147470388" } ], "glycoeffect": [], "start_pos": 428, "end_pos": 428, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397815", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" } ], "glycoeffect": [], "start_pos": 428, "end_pos": 428, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397816", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L428", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs869312250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312250" }, { "id": "12796853", "database": "PubMed", "url": "" } ], "glycoeffect": [], "start_pos": 428, "end_pos": 428, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397812AAGT", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L428", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1555984716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984716" }, { "id": "rs1555984716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984716" } ], "glycoeffect": [], "start_pos": 429, "end_pos": 429, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397814", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L429", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312251" }, { "id": "rs869312251", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312251" } ], "glycoeffect": [], "start_pos": 429, "end_pos": 429, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397813", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L429", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555984717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984717" }, { "id": "rs2520847400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520847400" } ], "glycoeffect": [], "start_pos": 429, "end_pos": 429, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397814", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L429", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1569306108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569306108" }, { "id": "rs1569306108", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1569306108" } ], "glycoeffect": [], "start_pos": 42, "end_pos": 42, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407778", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs797044613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044613" }, { "id": "rs797044613", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs797044613#frequency_tab" }, { "id": "rs797044613", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs797044613" } ], "glycoeffect": [], "start_pos": 42, "end_pos": 42, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407780", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M42", "disease": [ { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] }, { "disease_id": "DOID:14499", "recommended_name": { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." }, "synonyms": [ { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Angiokeratoma Corporis Diffusum", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry's disease", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "deficiency of melibiase", "description": "" }, { "id": "DOID:14499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14499", "name": "Fabry Disease, Cardiac Variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Alpha-galactosidase A deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Anderson-Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "FD", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry's disease", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fd", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "alpha galactosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma corporis diffusum", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "deficiency of melibiase", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "diffuse angiokeratoma", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Fabry disease, Cardiac variant", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "Gla deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "angiokeratoma, diffuse", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "ceramide trihexosidase deficiency", "description": "" }, { "id": "MONDO:0010526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010526", "name": "hereditary dystopic lipidosis", "description": "" }, { "id": "MIM:301500", "resource": "MIM", "url": "https://www.omim.org/entry/301500", "name": "Fabry disease", "description": "Fabry disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ] } }