{ "batchid": 10, "recordid": "P06280-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "rs104894843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894843" }, { "id": "rs104894843", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104894843" }, { "id": "8395937", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8395937" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398075", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R342", "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": "rs104894843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894843" }, { "id": "rs104894843", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104894843" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398075", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs28935493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28935493" }, { "id": "rs28935493", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28935493" }, { "id": "11531972", "database": "PubMed", "url": "" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398074", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R342", "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": "rs2520862276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520862276" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398469", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R342", "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": "rs1555984858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984858" }, { "id": "rs1555984858", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1555984858#frequency_tab" }, { "id": "rs1555984858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984858" } ], "glycoeffect": [], "start_pos": 343, "end_pos": 343, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398071", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P343", "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": "rs782312118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782312118" }, { "id": "rs782312118", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782312118" }, { "id": "rs782312118", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782312118#frequency_tab" }, { "id": "rs782312118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782312118" } ], "glycoeffect": [], "start_pos": 343, "end_pos": 343, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398072", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P343", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312215" } ], "glycoeffect": [], "start_pos": 343, "end_pos": 343, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398072", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P343", "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": "rs1555984916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984916" }, { "id": "rs1555984916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984916" } ], "glycoeffect": [], "start_pos": 344, "end_pos": 344, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398337", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312216" }, { "id": "rs869312216", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312216" } ], "glycoeffect": [], "start_pos": 344, "end_pos": 344, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398068", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs398123198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123198" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 345, "end_pos": 345, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398066AG", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S345", "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": "rs1928138185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928138185" }, { "id": "rs1928138185", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1928138185#frequency_tab" }, { "id": "rs1928138185", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1928138185" }, { "id": "rs879253990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879253990" } ], "glycoeffect": [], "start_pos": 346, "end_pos": 346, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398062", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G346", "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": "rs398123198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs398123198" } ], "glycoeffect": [], "start_pos": 346, "end_pos": 346, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398066AG", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G346", "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": "rs1928137855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928137855" } ], "glycoeffect": [], "start_pos": 347, "end_pos": 347, "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": "L347", "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": "rs2520854105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520854105" } ], "glycoeffect": [], "start_pos": 348, "end_pos": 348, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398056", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A348", "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": "rs1603037717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1603037717" }, { "id": "rs1603037717", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1603037717" } ], "glycoeffect": [], "start_pos": 348, "end_pos": 348, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398057", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2147471207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147471207" } ], "glycoeffect": [], "start_pos": 348, "end_pos": 348, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398057", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A348", "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": "rs869312218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312218" }, { "id": "rs869312218", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312218" }, { "id": "rs869312219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312219" }, { "id": "rs869312219", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312219" } ], "glycoeffect": [], "start_pos": 349, "end_pos": 349, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398053", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W349", "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": "rs1928137126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928137126" }, { "id": "rs1928137126", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928137126" } ], "glycoeffect": [], "start_pos": 349, "end_pos": 349, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398054", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W349", "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": "rs869312218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312218" }, { "id": "rs869312218", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312218" } ], "glycoeffect": [], "start_pos": 349, "end_pos": 349, "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398053", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W349", "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": "rs1555987150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555987150" }, { "id": "rs1555987150", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555987150" } ], "glycoeffect": [], "start_pos": 34, "end_pos": 34, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407804", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs104894835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894835" }, { "id": "rs104894835", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104894835" }, { "id": "7504405", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7504405" } ], "glycoeffect": [], "start_pos": 34, "end_pos": 34, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407803", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N34", "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": "rs2147487375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147487375" } ], "glycoeffect": [], "start_pos": 34, "end_pos": 34, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407800_101407804", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N34", "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": "rs869312155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312155" } ], "glycoeffect": [], "start_pos": 350, "end_pos": 350, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398443", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A350", "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": "rs1555984843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984843" }, { "id": "rs1555984843", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555984843" } ], "glycoeffect": [], "start_pos": 350, "end_pos": 350, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398051", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A350", "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": "rs2520853908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520853908" } ], "glycoeffect": [], "start_pos": 350, "end_pos": 350, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398050", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A350", "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": "rs1928136207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928136207" }, { "id": "rs1928136207", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928136207" } ], "glycoeffect": [], "start_pos": 351, "end_pos": 351, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398047", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V351", "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": "rs1555984840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984840" } ], "glycoeffect": [], "start_pos": 352, "end_pos": 352, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398043_101398044", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A352", "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": "rs869312162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312162" }, { "id": "rs869312162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs869312162" } ], "glycoeffect": [], "start_pos": 352, "end_pos": 352, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398044", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A352", "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:0070538", "recommended_name": { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "syndromic X-linked intellectual developmental disorder bain type", "description": "A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1." }, "synonyms": [ { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "HNRNPH2-RNDD", "description": "" }, { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "HNRNPH2-related neurodevelopmental disorder", "description": "" }, { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "MRXSB", "description": "" }, { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "Mental Retardation, X-linked, Syndrome, Bain Type", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "intellectual disability, X-linked, syndromic, Bain type", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "MRXSB", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "intellectual disability, X-linked, syndromic, Bain type", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "mental retardation, X-linked, syndromic, Bain type", "description": "" }, { "id": "MIM:300986", "resource": "MIM", "url": "https://www.omim.org/entry/300986", "name": "Intellectual developmental disorder, X-linked, syndromic, Bain type", "description": "Intellectual developmental disorder, X-linked, syndromic, Bain type" } ], "unlinked_id_list": [], "evidence": [ { "id": "300986", "database": "MIM", "url": "https://www.omim.org/entry/300986" }, { "id": "0070538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070538" } ] }, { "disease_id": "DOID:0070538", "recommended_name": { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "syndromic X-linked intellectual developmental disorder bain type", "description": "A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1." }, "synonyms": [ { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "HNRNPH2-RNDD", "description": "" }, { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "HNRNPH2-related neurodevelopmental disorder", "description": "" }, { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "MRXSB", "description": "" }, { "id": "DOID:0070538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070538", "name": "Mental Retardation, X-linked, Syndrome, Bain Type", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "intellectual disability, X-linked, syndromic, Bain type", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "MRXSB", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "intellectual disability, X-linked, syndromic, Bain type", "description": "" }, { "id": "MONDO:0010512", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010512", "name": "mental retardation, X-linked, syndromic, Bain type", "description": "" }, { "id": "MIM:300986", "resource": "MIM", "url": "https://www.omim.org/entry/300986", "name": "Intellectual developmental disorder, X-linked, syndromic, Bain type", "description": "Intellectual developmental disorder, X-linked, syndromic, Bain type" } ], "unlinked_id_list": [], "evidence": [ { "id": "300986", "database": "MIM", "url": "https://www.omim.org/entry/300986" }, { "id": "0070538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070538" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs886044829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886044829" } ], "glycoeffect": [], "start_pos": 353, "end_pos": 353, "sequence_org": "M", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398042_101398043", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M353", "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": "rs2066432822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2066432822" }, { "id": "rs2066432822", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2066432822" } ], "glycoeffect": [], "start_pos": 353, "end_pos": 353, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398040", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M353", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555984838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984838" }, { "id": "rs1555984838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984838" } ], "glycoeffect": [], "start_pos": 353, "end_pos": 353, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398042", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M353", "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": "rs1928135337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928135337" }, { "id": "rs1928135337", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928135337" } ], "glycoeffect": [], "start_pos": 354, "end_pos": 354, "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398038", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I354", "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": "rs782200316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782200316" }, { "id": "rs782200316", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782200316" }, { "id": "rs782200316", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782200316" } ], "glycoeffect": [], "start_pos": 354, "end_pos": 354, "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398039", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I354", "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": "rs869312222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312222" }, { "id": "rs869312222", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312222" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398034", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312163" }, { "id": "rs869312163", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs869312163#frequency_tab" }, { "id": "rs869312163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs869312163" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398032", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R356", "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": "rs869312163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312163" }, { "id": "rs869312163", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs869312163#frequency_tab" }, { "id": "rs869312163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs869312163" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398032", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R356", "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": "rs104894827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894827" }, { "id": "rs104894827", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104894827" }, { "id": "2539398", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2539398" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398033", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R356", "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": "rs869312223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312223" }, { "id": "rs869312223", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312223" } ], "glycoeffect": [], "start_pos": 357, "end_pos": 357, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398030", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2147471075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147471075" } ], "glycoeffect": [], "start_pos": 357, "end_pos": 357, "sequence_org": "Q", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398032", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q357", "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": "rs797044774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044774" }, { "id": "rs797044774", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs797044774" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398027", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E358", "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": "rs869312224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312224" }, { "id": "rs869312224", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312224" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398026", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E358", "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" }, { "id": "rs1928133181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928133181" }, { "id": "rs1928133181", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928133181" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "subjects_tested": "9251", "subjects_positive": "3", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101398025", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E358", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0080638", "DOID:7757", "DOID:706", "DOID:0050743", "DOID:6536", "DOID:1039", "DOID:1036", "DOID:0081452", "DOID:4960", "DOID:5772", "DOID:5604", "DOID:8527" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "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", "germline" ] }, { "evidence": [ { "id": "rs869312224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312224" }, { "id": "rs869312224", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312224" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398026", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E358", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs797044774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044774" }, { "id": "rs797044774", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs797044774" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398027", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E358", "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": "rs730880453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880453" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398027_101398029", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E358", "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": "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": 359, "end_pos": 359, "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": "I359", "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": "rs1569302692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569302692" } ], "glycoeffect": [], "start_pos": 359, "end_pos": 359, "sequence_org": "I", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398023", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312137" }, { "id": "rs869312137", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312137" } ], "glycoeffect": [], "start_pos": 35, "end_pos": 35, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407800", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G35", "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": "rs2520852645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520852645" }, { "id": "rs782509013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782509013" }, { "id": "rs782509013", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782509013" }, { "id": "rs782509013", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782509013" } ], "glycoeffect": [], "start_pos": 360, "end_pos": 360, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398014_101398023", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G360", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "rs782598150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782598150" }, { "id": "rs782598150", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782598150" }, { "id": "rs782598150", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782598150" } ], "glycoeffect": [], "start_pos": 360, "end_pos": 360, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101398021", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G360", "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: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": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs782509013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782509013" }, { "id": "rs782509013", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782509013" }, { "id": "rs782509013", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782509013" } ], "glycoeffect": [], "start_pos": 360, "end_pos": 360, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398020", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G360", "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": "rs782598150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782598150" }, { "id": "rs782598150", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782598150" }, { "id": "rs782598150", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782598150" } ], "glycoeffect": [], "start_pos": 360, "end_pos": 360, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398021", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G360", "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": "rs1928127475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928127475" }, { "id": "rs1928127475", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928127475" } ], "glycoeffect": [], "start_pos": 361, "end_pos": 361, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397982_101397983delin", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G361", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs28935494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28935494" }, { "id": "rs28935494", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs28935494" }, { "id": "8395937", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8395937" } ], "glycoeffect": [], "start_pos": 361, "end_pos": 361, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398018", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G361", "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" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs869312227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312227" }, { "id": "rs869312227", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312227" } ], "glycoeffect": [], "start_pos": 361, "end_pos": 361, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397981", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G361", "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": "rs730880441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs730880441" }, { "id": "rs730880441", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs730880441" } ], "glycoeffect": [], "start_pos": 362, "end_pos": 362, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398014", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P362", "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": "rs797044776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044776" }, { "id": "rs797044776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs797044776" } ], "glycoeffect": [], "start_pos": 363, "end_pos": 363, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398012", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R363", "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": "rs111422676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111422676" }, { "id": "rs111422676", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111422676" }, { "id": "rs111422676", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs111422676#frequency_tab" }, { "id": "rs111422676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs111422676" } ], "glycoeffect": [], "start_pos": 363, "end_pos": 363, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398011", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R363", "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": "rs1555984811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984811" }, { "id": "rs1555984811", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984811" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 364, "end_pos": 364, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398008", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S364", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555984811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984811" }, { "id": "rs1555984811", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984811" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 364, "end_pos": 364, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398008", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S364", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs104894849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894849" }, { "id": "rs104894849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs104894849" }, { "id": "8878432", "database": "PubMed", "url": "" }, { "id": "rs2520852439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520852439" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 365, "end_pos": 365, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398004", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y365", "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": "rs367658155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367658155" }, { "id": "rs367658155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367658155" }, { "id": "rs367658155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367658155#frequency_tab" }, { "id": "rs367658155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367658155" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 365, "end_pos": 365, "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398006", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y365", "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": "rs367658155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367658155" }, { "id": "rs367658155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367658155" }, { "id": "rs367658155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367658155#frequency_tab" }, { "id": "rs367658155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367658155" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 365, "end_pos": 365, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398006", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y365", "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": "rs1928130384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928130384" }, { "id": "rs1928130384", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1928130384" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 366, "end_pos": 366, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398003", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781788370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781788370" }, { "id": "rs781788370", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781788370" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 366, "end_pos": 366, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398002", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T366", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144994244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144994244" }, { "id": "rs144994244", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144994244" }, { "id": "rs144994244", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144994244" }, { "id": "rs144994244", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144994244#frequency_tab" }, { "id": "rs144994244", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144994244" } ], "glycoeffect": [], "start_pos": 368, "end_pos": 368, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397997", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A368", "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": "rs144994244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144994244" }, { "id": "rs144994244", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144994244" }, { "id": "rs144994244", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144994244" }, { "id": "rs144994244", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144994244#frequency_tab" }, { "id": "rs144994244", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144994244" } ], "glycoeffect": [], "start_pos": 368, "end_pos": 368, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397997", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A368", "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": "rs2520852065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520852065" } ], "glycoeffect": [], "start_pos": 368, "end_pos": 368, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397996", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A368", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312138" }, { "id": "rs869312138", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312138" } ], "glycoeffect": [], "start_pos": 36, "end_pos": 36, "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407797", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L36", "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": "rs2147470905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147470905" }, { "id": "rs2147470905", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2147470905" } ], "glycoeffect": [], "start_pos": 370, "end_pos": 370, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397990", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A370", "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": "rs1176625357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176625357" }, { "id": "rs1176625357", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1176625357#frequency_tab" }, { "id": "rs1176625357", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1176625357" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 371, "end_pos": 371, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397987", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1928127729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928127729" }, { "id": "rs1928127729", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928127729" } ], "glycoeffect": [], "start_pos": 372, "end_pos": 372, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397984", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L372", "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": 373, "end_pos": 373, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "A", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397981", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G373", "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": "rs1928127475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928127475" }, { "id": "rs1928127475", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928127475" } ], "glycoeffect": [], "start_pos": 373, "end_pos": 373, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397982_101397983delin", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G373", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312227" }, { "id": "rs869312227", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312227" } ], "glycoeffect": [], "start_pos": 373, "end_pos": 373, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397981", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G373", "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": "rs727504348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727504348" }, { "id": "rs727504348", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs727504348" } ], "glycoeffect": [], "start_pos": 373, "end_pos": 373, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397982", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G373", "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": "rs869312227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312227" }, { "id": "rs869312227", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312227" } ], "glycoeffect": [], "start_pos": 373, "end_pos": 373, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397981", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G373", "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": "rs869312228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312228" }, { "id": "rs869312228", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312228" } ], "glycoeffect": [], "start_pos": 374, "end_pos": 374, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397978", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs869312164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312164" }, { "id": "rs869312164", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312164" } ], "glycoeffect": [], "start_pos": 375, "end_pos": 375, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397975", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G375", "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": "rs782690996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782690996" }, { "id": "rs782690996", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782690996" }, { "id": "rs782690996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782690996#frequency_tab" }, { "id": "rs782690996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782690996" }, { "id": "rs869312164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312164" }, { "id": "rs869312164", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312164" } ], "glycoeffect": [], "start_pos": 375, "end_pos": 375, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398098", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G375", "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" } ] } ] }, { "evidence": [ { "id": "rs2520855305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520855305" } ], "glycoeffect": [], "start_pos": 375, "end_pos": 375, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398099", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G375", "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": "rs1603037323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1603037323" }, { "id": "7504405", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7504405" } ], "glycoeffect": [], "start_pos": 375, "end_pos": 375, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397924_101397976", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G375", "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": "rs1928136207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928136207" }, { "id": "rs1928136207", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928136207" }, { "id": "rs1555984793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555984793" }, { "id": "rs1555984793", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1555984793#frequency_tab" }, { "id": "rs1555984793", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984793" } ], "glycoeffect": [], "start_pos": 376, "end_pos": 376, "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101398047", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V376", "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": "rs876661347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs876661347" } ], "glycoeffect": [], "start_pos": 376, "end_pos": 376, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397959_101397974", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V376", "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": "rs1928125531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928125531" }, { "id": "rs1928125531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1928125531" } ], "glycoeffect": [], "start_pos": 377, "end_pos": 377, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397969", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A377", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1928125824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928125824" } ], "glycoeffect": [], "start_pos": 377, "end_pos": 377, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397972_101397975", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A377", "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": "rs869312230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312230" }, { "id": "rs869312230", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312230" } ], "glycoeffect": [], "start_pos": 378, "end_pos": 378, "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397967", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C378", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2520851123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520851123" } ], "glycoeffect": [], "start_pos": 378, "end_pos": 378, "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397966", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C378", "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": "rs2520851203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520851203" } ], "glycoeffect": [], "start_pos": 378, "end_pos": 378, "sequence_org": "C", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397967", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C378", "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": "rs1928125044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1928125044" }, { "id": "rs1928125044", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1928125044" } ], "glycoeffect": [], "start_pos": 379, "end_pos": 379, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397964", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N379", "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": 379, "end_pos": 379, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "T", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101397963", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N379", "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": "rs869312226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312226" }, { "id": "rs869312226", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312226" } ], "glycoeffect": [], "start_pos": 37, "end_pos": 37, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407795", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A37", "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": "P06280", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280" }, { "id": "rs869312226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs869312226" }, { "id": "rs869312226", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs869312226" } ], "glycoeffect": [], "start_pos": 37, "end_pos": 37, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "23", "chr_pos": "101407795", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A37", "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" } ] }, { "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": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs2520944908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520944908" } ], "glycoeffect": [], "start_pos": 37, "end_pos": 37, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101407796", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A37", "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": "rs2520851004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520851004" } ], "glycoeffect": [], "start_pos": 380, "end_pos": 380, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101397960", "ref_nt": "A", "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" ] } ] } }