{ "batchid": 8, "recordid": "O00754-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "rs864621994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864621994" }, { "id": "rs864621994", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs864621994" } ], "glycoeffect": [], "start_pos": 801, "end_pos": 801, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649170", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G801", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs142702682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142702682" }, { "id": "rs142702682", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs142702682" }, { "id": "rs142702682", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142702682" }, { "id": "rs142702682", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142702682#frequency_tab" }, { "id": "rs142702682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142702682" } ], "glycoeffect": [], "start_pos": 801, "end_pos": 801, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649171", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "G801", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs141391488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141391488" }, { "id": "rs141391488", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141391488" }, { "id": "rs141391488", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141391488" }, { "id": "rs141391488", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141391488#frequency_tab" }, { "id": "rs141391488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141391488" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 802, "end_pos": 802, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649168", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00313972", "site_lbl": "S802", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 802, "end_pos": 802, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12649166", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S802", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs797044680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044680" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 802, "end_pos": 802, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649175", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S802", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2023773990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023773990" }, { "id": "rs2023773990", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2023773990" } ], "glycoeffect": [], "start_pos": 805, "end_pos": 805, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649158", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R805", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1347035611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347035611" } ], "glycoeffect": [], "start_pos": 805, "end_pos": 805, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649155TC", "ref_nt": "]", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R805", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1232072412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232072412" }, { "id": "rs1232072412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232072412" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 806, "end_pos": 806, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649156", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D806", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 807, "end_pos": 807, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12649153", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G807", "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", "ebi" ] }, { "evidence": [ { "id": "rs1275304830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275304830" }, { "id": "rs1275304830", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275304830#frequency_tab" }, { "id": "rs1275304830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275304830" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 808, "end_pos": 808, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649149", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S808", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs992957181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs992957181" }, { "id": "rs992957181", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs992957181" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 808, "end_pos": 808, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649150", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S808", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs992957181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs992957181" }, { "id": "rs992957181", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs992957181" } ], "glycoeffect": [], "start_pos": 808, "end_pos": 808, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649150", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S808", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs80338681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80338681" }, { "id": "rs80338681", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80338681" }, { "id": "rs80338681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs80338681#frequency_tab" }, { "id": "rs80338681", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80338681" }, { "id": "22161967", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22161967" }, { "id": "9915946", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9915946" } ], "glycoeffect": [], "start_pos": 809, "end_pos": 809, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649146", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L809", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs566259319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566259319" }, { "id": "rs566259319", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs566259319" }, { "id": "rs566259319", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs566259319#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 80, "end_pos": 80, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665726", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T80", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs566259319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs566259319" }, { "id": "rs566259319", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs566259319" }, { "id": "rs566259319", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs566259319#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 80, "end_pos": 80, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665726", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T80", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2023773374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023773374" }, { "id": "rs2023773374", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2023773374" } ], "glycoeffect": [], "start_pos": 810, "end_pos": 810, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649144", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E810", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367852398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367852398" }, { "id": "rs367852398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367852398" }, { "id": "rs367852398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367852398#frequency_tab" }, { "id": "rs367852398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367852398" } ], "glycoeffect": [], "start_pos": 811, "end_pos": 811, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649141", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L811", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs762235411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762235411" }, { "id": "rs762235411", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762235411" }, { "id": "rs762235411", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762235411" } ], "glycoeffect": [], "start_pos": 812, "end_pos": 812, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649137", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M812", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 813, "end_pos": 813, "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648402", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V813", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2023754282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023754282" }, { "id": "rs2023754282", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2023754282" } ], "glycoeffect": [], "start_pos": 815, "end_pos": 815, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648395", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R815", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs747744816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747744816" }, { "id": "rs747744816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747744816" }, { "id": "rs747744816", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747744816#frequency_tab" }, { "id": "rs747744816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747744816" }, { "id": "rs747744816", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs747744816" } ], "glycoeffect": [], "start_pos": 816, "end_pos": 816, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648391", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R816", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2512486844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486844" } ], "glycoeffect": [], "start_pos": 816, "end_pos": 816, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648392_12648394deli", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R816", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs970921118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970921118" }, { "id": "rs970921118", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs970921118#frequency_tab" }, { "id": "rs970921118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs970921118" } ], "glycoeffect": [], "start_pos": 818, "end_pos": 818, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648386", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L818", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2023753528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023753528" }, { "id": "rs2023753528", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2023753528#frequency_tab" }, { "id": "rs2023753528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2023753528" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 819, "end_pos": 819, "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648383", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K819", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12665723", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V81", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs745672572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745672572" }, { "id": "rs745672572", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745672572" }, { "id": "rs745672572", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745672572" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665724", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V81", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12665724", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V81", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs746868162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746868162" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665724", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V81", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2023753426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023753426" }, { "id": "rs2023753426", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2023753426" } ], "glycoeffect": [], "start_pos": 820, "end_pos": 820, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648381", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D820", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2512486810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486810" } ], "glycoeffect": [], "start_pos": 820, "end_pos": 820, "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648380", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D820", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369174673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369174673" }, { "id": "rs369174673", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369174673" }, { "id": "rs369174673", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369174673#frequency_tab" }, { "id": "rs369174673", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369174673" } ], "glycoeffect": [], "start_pos": 822, "end_pos": 822, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648374", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G822", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746805353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746805353" }, { "id": "rs746805353", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746805353" }, { "id": "rs746805353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746805353" } ], "glycoeffect": [], "start_pos": 823, "end_pos": 823, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648372", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R823", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs746805353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746805353" }, { "id": "rs746805353", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746805353" }, { "id": "rs746805353", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746805353" } ], "glycoeffect": [], "start_pos": 823, "end_pos": 823, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648372", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R823", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 824, "end_pos": 824, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648368", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G824", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 824, "end_pos": 824, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648369", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G824", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2145225759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145225759" } ], "glycoeffect": [], "start_pos": 824, "end_pos": 824, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648363_12648372", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G824", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs758333025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758333025" }, { "id": "rs758333025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758333025" }, { "id": "rs758333025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758333025" } ], "glycoeffect": [], "start_pos": 825, "end_pos": 825, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648365", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V825", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1440294581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1440294581" }, { "id": "rs1440294581", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1440294581#frequency_tab" }, { "id": "rs1440294581", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1440294581" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 826, "end_pos": 826, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648362", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S826", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1568297991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568297991" }, { "id": "rs1568297991", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1568297991" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 826, "end_pos": 826, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648363", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S826", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745928175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745928175" }, { "id": "rs745928175", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745928175" }, { "id": "rs745928175", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745928175#frequency_tab" }, { "id": "rs745928175", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745928175" } ], "glycoeffect": [], "start_pos": 827, "end_pos": 827, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648360", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E827", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745928175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745928175" }, { "id": "rs745928175", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745928175" }, { "id": "rs745928175", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745928175#frequency_tab" }, { "id": "rs745928175", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745928175" } ], "glycoeffect": [], "start_pos": 827, "end_pos": 827, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648360", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E827", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs757416569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757416569" }, { "id": "rs757416569", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757416569" }, { "id": "rs757416569", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757416569#frequency_tab" }, { "id": "rs757416569", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757416569" } ], "glycoeffect": [], "start_pos": 830, "end_pos": 830, "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648351", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M830", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1438173166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438173166" }, { "id": "rs1438173166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1438173166#frequency_tab" }, { "id": "rs1438173166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1438173166" } ], "glycoeffect": [], "start_pos": 830, "end_pos": 830, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648350", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M830", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 831, "end_pos": 831, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "E", "sequence_mut": "D", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648346", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E831", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2512486743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486743" } ], "glycoeffect": [], "start_pos": 831, "end_pos": 831, "sequence_org": "E", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648342_12648349", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E831", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs144244650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144244650" }, { "id": "rs144244650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144244650" }, { "id": "rs144244650", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144244650#frequency_tab" }, { "id": "rs144244650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144244650" } ], "glycoeffect": [], "start_pos": 833, "end_pos": 833, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648342", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G833", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs199967717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967717" }, { "id": "rs199967717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199967717" }, { "id": "rs199967717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199967717#frequency_tab" }, { "id": "rs199967717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199967717" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 834, "end_pos": 834, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648338", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S834", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1046850193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1046850193" }, { "id": "rs1046850193", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1046850193#frequency_tab" }, { "id": "rs1046850193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1046850193" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 834, "end_pos": 834, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648339", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S834", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs1223376639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223376639" }, { "id": "rs1223376639", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1223376639#frequency_tab" }, { "id": "rs1223376639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223376639" } ], "glycoeffect": [], "start_pos": 835, "end_pos": 835, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648335", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G835", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1223376639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223376639" }, { "id": "rs1223376639", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1223376639#frequency_tab" }, { "id": "rs1223376639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223376639" } ], "glycoeffect": [], "start_pos": 835, "end_pos": 835, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648335", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G835", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213197244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213197244" }, { "id": "rs1213197244", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213197244#frequency_tab" }, { "id": "rs1213197244", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213197244" } ], "glycoeffect": [], "start_pos": 836, "end_pos": 836, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648332", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A836", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140281123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140281123" }, { "id": "rs140281123", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140281123" }, { "id": "rs140281123", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140281123#frequency_tab" }, { "id": "rs140281123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140281123" } ], "glycoeffect": [], "start_pos": 836, "end_pos": 836, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648333", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A836", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs140281123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140281123" }, { "id": "rs140281123", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140281123" }, { "id": "rs140281123", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140281123#frequency_tab" }, { "id": "rs140281123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140281123" } ], "glycoeffect": [], "start_pos": 836, "end_pos": 836, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648333", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A836", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140281123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140281123" }, { "id": "rs140281123", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140281123" }, { "id": "rs140281123", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140281123#frequency_tab" }, { "id": "rs140281123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140281123" } ], "glycoeffect": [], "start_pos": 836, "end_pos": 836, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648333", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A836", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 836, "end_pos": 836, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648332", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A836", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2512486704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486704" } ], "glycoeffect": [], "start_pos": 837, "end_pos": 837, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648328", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W837", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs760097655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760097655" }, { "id": "rs760097655", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760097655" }, { "id": "rs760097655", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760097655#frequency_tab" }, { "id": "rs760097655", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760097655" } ], "glycoeffect": [], "start_pos": 837, "end_pos": 837, "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648330", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W837", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1234164131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1234164131" }, { "id": "rs1234164131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1234164131" } ], "glycoeffect": [], "start_pos": 838, "end_pos": 838, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648326", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1030405860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1030405860" }, { "id": "rs1030405860", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1030405860#frequency_tab" } ], "glycoeffect": [], "start_pos": 838, "end_pos": 838, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648327", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1030405860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1030405860" } ], "glycoeffect": [], "start_pos": 838, "end_pos": 838, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648327", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V838", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2145225515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145225515" } ], "glycoeffect": [], "start_pos": 838, "end_pos": 838, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648329_12648330insGCGCC", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V838", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs1291147781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291147781" }, { "id": "rs1291147781", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1291147781#frequency_tab" } ], "glycoeffect": [], "start_pos": 839, "end_pos": 839, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648324", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R839", "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:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1291147781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291147781" }, { "id": "rs1291147781", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1291147781#frequency_tab" } ], "glycoeffect": [], "start_pos": 839, "end_pos": 839, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648324", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R839", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 839, "end_pos": 839, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "P", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648323", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R839", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2023749207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023749207" }, { "id": "rs2023749207", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2023749207" }, { "id": "rs2023749207", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2023749207" } ], "glycoeffect": [], "start_pos": 839, "end_pos": 839, "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648323", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R839", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs2024217737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2024217737" }, { "id": "rs2024217737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2024217737#frequency_tab" }, { "id": "rs2024217737", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2024217737" } ], "glycoeffect": [], "start_pos": 83, "end_pos": 83, "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665718", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q83", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs778650869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778650869" }, { "id": "rs778650869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778650869" }, { "id": "rs778650869", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778650869" } ], "glycoeffect": [], "start_pos": 83, "end_pos": 83, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665716", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q83", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2024217737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2024217737" }, { "id": "rs2024217737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2024217737#frequency_tab" } ], "glycoeffect": [], "start_pos": 83, "end_pos": 83, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665718", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q83", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1295349608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1295349608" }, { "id": "rs1295349608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1295349608" } ], "glycoeffect": [], "start_pos": 840, "end_pos": 840, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648320", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G840", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752079394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752079394" }, { "id": "rs752079394", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752079394" }, { "id": "rs752079394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752079394" } ], "glycoeffect": [], "start_pos": 840, "end_pos": 840, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648321", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G840", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs2023748701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023748701" }, { "id": "rs2023748701", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2023748701#frequency_tab" }, { "id": "rs2023748701", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2023748701" } ], "glycoeffect": [], "start_pos": 841, "end_pos": 841, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648318", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R841", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs866046032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866046032" }, { "id": "rs866046032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs866046032" }, { "id": "rs866046032", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs866046032" } ], "glycoeffect": [], "start_pos": 841, "end_pos": 841, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648317", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R841", "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", "ebi" ] }, { "evidence": [ { "id": "rs866046032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866046032" }, { "id": "rs866046032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs866046032" } ], "glycoeffect": [], "start_pos": 841, "end_pos": 841, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648317", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R841", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs1327029675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327029675" }, { "id": "rs1327029675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327029675" }, { "id": "rs1327029675", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1327029675" } ], "glycoeffect": [], "start_pos": 842, "end_pos": 842, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648315", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H842", "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:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1391743738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391743738" }, { "id": "rs1391743738", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1391743738#frequency_tab" }, { "id": "rs1391743738", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391743738" } ], "glycoeffect": [], "start_pos": 843, "end_pos": 843, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648312", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L843", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776299948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776299948" }, { "id": "rs776299948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776299948" }, { "id": "rs776299948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776299948" } ], "glycoeffect": [], "start_pos": 845, "end_pos": 845, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648305", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L845", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2023747886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023747886" }, { "id": "rs2023747886", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2023747886" } ], "glycoeffect": [], "start_pos": 845, "end_pos": 845, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648306", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L845", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2512486639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486639" }, { "id": "rs2145225250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145225250" } ], "glycoeffect": [], "start_pos": 845, "end_pos": 845, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648297_12648306", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L845", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 848, "end_pos": 848, "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648297", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T848", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 848, "end_pos": 848, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648297", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T848", "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": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 849, "end_pos": 849, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648294", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A849", "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:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1453700291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453700291" }, { "id": "rs1453700291", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453700291" } ], "glycoeffect": [], "start_pos": 849, "end_pos": 849, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648294", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A849", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2024217585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2024217585" }, { "id": "rs2024217585", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2024217585" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 84, "end_pos": 84, "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665713", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y84", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 84, "end_pos": 84, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "H", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12665715", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y84", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs768244588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768244588" }, { "id": "rs768244588", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768244588" }, { "id": "rs768244588", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768244588" } ], "glycoeffect": [], "start_pos": 850, "end_pos": 850, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648290", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q850", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1488489924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488489924" }, { "id": "rs1488489924", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488489924" } ], "glycoeffect": [], "start_pos": 851, "end_pos": 851, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648287", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A851", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs528323073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528323073" }, { "id": "rs528323073", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528323073" }, { "id": "rs528323073", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528323073" }, { "id": "rs528323073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs528323073" } ], "glycoeffect": [], "start_pos": 851, "end_pos": 851, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648288", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A851", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs528323073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528323073" }, { "id": "rs528323073", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs528323073" }, { "id": "rs528323073", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs528323073" }, { "id": "rs528323073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs528323073" } ], "glycoeffect": [], "start_pos": 851, "end_pos": 851, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648288", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "A851", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2512486626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486626" } ], "glycoeffect": [], "start_pos": 852, "end_pos": 852, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648284", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A852", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2512486513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486513" } ], "glycoeffect": [], "start_pos": 852, "end_pos": 852, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648254_12648285", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A852", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs886054229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886054229" }, { "id": "rs886054229", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs886054229" } ], "glycoeffect": [], "start_pos": 853, "end_pos": 853, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648281", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A853", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 854, "end_pos": 854, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648279", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A854", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs775204651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775204651" }, { "id": "rs775204651", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775204651" }, { "id": "rs775204651", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775204651#frequency_tab" }, { "id": "rs775204651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775204651" } ], "glycoeffect": [], "start_pos": 854, "end_pos": 854, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648278", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A854", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2023745479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023745479" } ], "glycoeffect": [], "start_pos": 854, "end_pos": 854, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648265_12648281", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A854", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1275770272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275770272" }, { "id": "rs1275770272", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275770272#frequency_tab" }, { "id": "rs1275770272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1275770272" }, { "id": "rs1275770272", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1275770272" } ], "glycoeffect": [], "start_pos": 855, "end_pos": 855, "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648276", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G855", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs2023745682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023745682" }, { "id": "rs2023745682", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2023745682" } ], "glycoeffect": [], "start_pos": 856, "end_pos": 856, "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648272", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H856", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1210871670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1210871670" }, { "id": "rs1210871670", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1210871670#frequency_tab" }, { "id": "rs1210871670", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1210871670" } ], "glycoeffect": [], "start_pos": 857, "end_pos": 857, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648270", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R857", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1346339262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346339262" }, { "id": "rs1346339262", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1346339262#frequency_tab" }, { "id": "rs1346339262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346339262" } ], "glycoeffect": [], "start_pos": 857, "end_pos": 857, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648269", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R857", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2512486581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486581" } ], "glycoeffect": [], "start_pos": 857, "end_pos": 857, "sequence_org": "R", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648277_12648301", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R857", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2512486564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486564" } ], "glycoeffect": [], "start_pos": 858, "end_pos": 858, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648267", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L858", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1303966138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303966138" }, { "id": "rs1303966138", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1303966138" }, { "id": "rs1303966138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303966138" } ], "glycoeffect": [], "start_pos": 859, "end_pos": 859, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648263", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "L859", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749425508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749425508" }, { "id": "rs749425508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749425508" }, { "id": "rs749425508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749425508#frequency_tab" }, { "id": "rs749425508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749425508" } ], "glycoeffect": [], "start_pos": 860, "end_pos": 860, "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648260", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A860", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749425508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749425508" }, { "id": "rs749425508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749425508" }, { "id": "rs749425508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749425508#frequency_tab" }, { "id": "rs749425508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749425508" } ], "glycoeffect": [], "start_pos": 860, "end_pos": 860, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648260", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A860", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1372637071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372637071" }, { "id": "rs1372637071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1372637071" } ], "glycoeffect": [], "start_pos": 860, "end_pos": 860, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648261", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A860", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749425508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749425508" }, { "id": "rs749425508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749425508" }, { "id": "rs749425508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749425508#frequency_tab" }, { "id": "rs749425508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749425508" } ], "glycoeffect": [], "start_pos": 860, "end_pos": 860, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648260", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A860", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1411862425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411862425" }, { "id": "rs1411862425", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411862425" } ], "glycoeffect": [], "start_pos": 861, "end_pos": 861, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648258", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E861", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756359957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756359957" }, { "id": "rs756359957", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756359957" }, { "id": "rs756359957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756359957" } ], "glycoeffect": [], "start_pos": 862, "end_pos": 862, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648255", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q862", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2023744547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023744547" }, { "id": "rs2023744547", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2023744547" } ], "glycoeffect": [], "start_pos": 862, "end_pos": 862, "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648254", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q862", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1434096210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434096210" }, { "id": "rs1434096210", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434096210" } ], "glycoeffect": [], "start_pos": 863, "end_pos": 863, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648250", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E863", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753095085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753095085" }, { "id": "rs753095085", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753095085" }, { "id": "rs753095085", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753095085#frequency_tab" }, { "id": "rs753095085", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753095085" } ], "glycoeffect": [], "start_pos": 864, "end_pos": 864, "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648249", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V864", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1165486427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165486427" }, { "id": "rs1165486427", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1165486427#frequency_tab" }, { "id": "rs1165486427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165486427" } ], "glycoeffect": [], "start_pos": 865, "end_pos": 865, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648245", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L865", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1178086242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178086242" }, { "id": "rs1178086242", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1178086242#frequency_tab" }, { "id": "rs1178086242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178086242" } ], "glycoeffect": [], "start_pos": 866, "end_pos": 866, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648243", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A866", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs1178086242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178086242" }, { "id": "rs1178086242", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1178086242#frequency_tab" }, { "id": "rs1178086242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178086242" } ], "glycoeffect": [], "start_pos": 866, "end_pos": 866, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648243", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A866", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1433300062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433300062" }, { "id": "rs1433300062", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433300062" } ], "glycoeffect": [], "start_pos": 866, "end_pos": 866, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648242", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A866", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2512486479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486479" } ], "glycoeffect": [], "start_pos": 866, "end_pos": 866, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648244", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A866", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 867, "end_pos": 867, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648240", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P867", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2023743942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023743942" } ], "glycoeffect": [], "start_pos": 867, "end_pos": 867, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648242", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P867", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs1179633090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179633090" }, { "id": "rs1179633090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179633090" }, { "id": "rs1179633090", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1179633090" } ], "glycoeffect": [], "start_pos": 868, "end_pos": 868, "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648237", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q868", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs752103191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752103191" }, { "id": "rs752103191", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs752103191" } ], "glycoeffect": [], "start_pos": 868, "end_pos": 868, "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648236", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q868", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2512486420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486420" }, { "id": "rs2512486445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486445" } ], "glycoeffect": [], "start_pos": 868, "end_pos": 868, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648229_12648239", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q868", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1051322269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1051322269" }, { "id": "rs1051322269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1051322269#frequency_tab" }, { "id": "rs1051322269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1051322269" } ], "glycoeffect": [], "start_pos": 869, "end_pos": 869, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648234", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V869", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1051322269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1051322269" }, { "id": "rs1051322269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1051322269#frequency_tab" }, { "id": "rs1051322269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1051322269" } ], "glycoeffect": [], "start_pos": 869, "end_pos": 869, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648234", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V869", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1171416815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171416815" }, { "id": "rs1171416815", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1171416815#frequency_tab" }, { "id": "rs1171416815", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171416815" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 86, "end_pos": 86, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665709", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y86", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2024217430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2024217430" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 86, "end_pos": 86, "sequence_org": "Y", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12665712", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y86", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1370648926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370648926" }, { "id": "rs1370648926", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1370648926#frequency_tab" } ], "glycoeffect": [], "start_pos": 870, "end_pos": 870, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648231", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V870", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2512486436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486436" } ], "glycoeffect": [], "start_pos": 870, "end_pos": 870, "sequence_org": "V", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648231_12648232insACTGTCTCTT", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V870", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2023743167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023743167" }, { "id": "rs2023743167", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2023743167#frequency_tab" }, { "id": "rs2023743167", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2023743167" } ], "glycoeffect": [], "start_pos": 872, "end_pos": 872, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648225", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2023743167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023743167" }, { "id": "rs2023743167", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2023743167#frequency_tab" }, { "id": "rs2023743167", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2023743167" } ], "glycoeffect": [], "start_pos": 872, "end_pos": 872, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648225", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1258308427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258308427" }, { "id": "rs1258308427", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1258308427" } ], "glycoeffect": [], "start_pos": 872, "end_pos": 872, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648224", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752022224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752022224" }, { "id": "rs752022224", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752022224" }, { "id": "rs752022224", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752022224" }, { "id": "rs752022224", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs752022224" } ], "glycoeffect": [], "start_pos": 873, "end_pos": 873, "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648221", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P873", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs752022224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752022224" }, { "id": "rs752022224", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752022224" }, { "id": "rs752022224", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752022224" } ], "glycoeffect": [], "start_pos": 873, "end_pos": 873, "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648221", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P873", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs11554969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11554969" }, { "id": "rs11554969", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs11554969" } ], "glycoeffect": [], "start_pos": 873, "end_pos": 873, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648222", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P873", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1230523125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230523125" }, { "id": "rs1230523125", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230523125#frequency_tab" }, { "id": "rs1230523125", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230523125" } ], "glycoeffect": [], "start_pos": 874, "end_pos": 874, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648219", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G874", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1230523125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230523125" }, { "id": "rs1230523125", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230523125#frequency_tab" }, { "id": "rs1230523125", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230523125" } ], "glycoeffect": [], "start_pos": 874, "end_pos": 874, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648219", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G874", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2145224638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145224638" }, { "id": "rs2145224638", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2145224638" } ], "glycoeffect": [], "start_pos": 875, "end_pos": 875, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648215", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G875", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs1413967043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413967043" }, { "id": "rs1413967043", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1413967043" }, { "id": "rs1413967043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413967043#frequency_tab" }, { "id": "rs1413967043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413967043" }, { "id": "rs1413967043", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1413967043" } ], "glycoeffect": [], "start_pos": 876, "end_pos": 876, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "12648212", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "G876", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1413967043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413967043" }, { "id": "rs1413967043", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1413967043" }, { "id": "rs1413967043", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413967043#frequency_tab" }, { "id": "rs1413967043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413967043" } ], "glycoeffect": [], "start_pos": 876, "end_pos": 876, "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648212", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G876", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs979496069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs979496069" }, { "id": "rs979496069", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs979496069#frequency_tab" }, { "id": "rs979496069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs979496069" } ], "glycoeffect": [], "start_pos": 876, "end_pos": 876, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648213", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G876", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1337442055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337442055" }, { "id": "rs1337442055", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1337442055#frequency_tab" } ], "glycoeffect": [], "start_pos": 877, "end_pos": 877, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648209", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A877", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1376652013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376652013" }, { "id": "rs1376652013", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1376652013#frequency_tab" }, { "id": "rs1376652013", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376652013" } ], "glycoeffect": [], "start_pos": 877, "end_pos": 877, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648210", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A877", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 878, "end_pos": 878, "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": "19", "chr_pos": "12648207", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A878", "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": "rs2512486350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486350" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 879, "end_pos": 879, "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648203", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y879", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1304557768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1304557768" }, { "id": "rs1304557768", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1304557768" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 879, "end_pos": 879, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648204", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y879", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs753811983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753811983" }, { "id": "rs753811983", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753811983" }, { "id": "rs753811983", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753811983#frequency_tab" }, { "id": "rs753811983", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753811983" } ], "glycoeffect": [], "start_pos": 87, "end_pos": 87, "subjects_tested": "4177", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12665706", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G87", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs763786776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763786776" }, { "id": "rs763786776", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763786776" }, { "id": "rs763786776", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763786776#frequency_tab" }, { "id": "rs763786776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763786776" } ], "glycoeffect": [], "start_pos": 880, "end_pos": 880, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648199", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N880", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1466468362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466468362" }, { "id": "rs1466468362", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1466468362#frequency_tab" }, { "id": "rs1466468362", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466468362" } ], "glycoeffect": [], "start_pos": 880, "end_pos": 880, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648200", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N880", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 880, "end_pos": 880, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648200", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N880", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2512486342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512486342" } ], "glycoeffect": [], "start_pos": 880, "end_pos": 880, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648202_12648203insAGTTG", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N880", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1361762525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361762525" }, { "id": "rs1361762525", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1361762525#frequency_tab" }, { "id": "rs1361762525", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1361762525" } ], "glycoeffect": [], "start_pos": 881, "end_pos": 881, "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648198", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L881", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1257140060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257140060" }, { "id": "rs1257140060", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1257140060" } ], "glycoeffect": [], "start_pos": 882, "end_pos": 882, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648195", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G882", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2145224416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145224416" } ], "glycoeffect": [], "start_pos": 883, "end_pos": 883, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648195", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A883", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs760186947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760186947" }, { "id": "rs760186947", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760186947" }, { "id": "rs760186947", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760186947#frequency_tab" }, { "id": "rs760186947", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760186947" } ], "glycoeffect": [], "start_pos": 884, "end_pos": 884, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648188", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P884", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2023741206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2023741206" }, { "id": "rs2023741206", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2023741206" }, { "id": "rs2023741206", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2023741206" } ], "glycoeffect": [], "start_pos": 884, "end_pos": 884, "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648189", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P884", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 885, "end_pos": 885, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12648185", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P885", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1240726971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240726971" }, { "id": "rs1240726971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1240726971#frequency_tab" } ], "glycoeffect": [], "start_pos": 886, "end_pos": 886, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648182", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R886", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1186717379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186717379" }, { "id": "rs1186717379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186717379#frequency_tab" }, { "id": "rs1186717379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1186717379" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 887, "end_pos": 887, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12648180", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T887", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1161966249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161966249" }, { "id": "rs1161966249", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1161966249#frequency_tab" } ], "glycoeffect": [], "start_pos": 889, "end_pos": 889, "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647598", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F889", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1406466561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406466561" }, { "id": "rs1406466561", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1406466561#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 890, "end_pos": 890, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647594", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S890", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1413793269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413793269" }, { "id": "rs1413793269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1413793269#frequency_tab" } ], "glycoeffect": [], "start_pos": 890, "end_pos": 890, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647595", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S890", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs864621988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864621988" }, { "id": "rs864621988", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs864621988" } ], "glycoeffect": [], "start_pos": 891, "end_pos": 891, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647592", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G891", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1599338484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599338484" } ], "glycoeffect": [], "start_pos": 891, "end_pos": 891, "sequence_org": "G", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647592_12647593", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G891", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs368951229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368951229" }, { "id": "rs368951229", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368951229" }, { "id": "rs368951229", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368951229" }, { "id": "rs368951229", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368951229#frequency_tab" }, { "id": "rs368951229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368951229" } ], "glycoeffect": [], "start_pos": 892, "end_pos": 892, "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647589", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "L892", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs864621989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864621989" }, { "id": "rs864621989", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs864621989" } ], "glycoeffect": [], "start_pos": 892, "end_pos": 892, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647588", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L892", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1394625602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394625602" }, { "id": "rs1394625602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1394625602#frequency_tab" }, { "id": "rs1394625602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394625602" } ], "glycoeffect": [], "start_pos": 893, "end_pos": 893, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647586", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R893", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1394625602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394625602" }, { "id": "rs1394625602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1394625602#frequency_tab" }, { "id": "rs1394625602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394625602" } ], "glycoeffect": [], "start_pos": 893, "end_pos": 893, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647586", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R893", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196853128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196853128" }, { "id": "rs1196853128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196853128" } ], "glycoeffect": [], "start_pos": 893, "end_pos": 893, "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647585", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R893", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs755681471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755681471" }, { "id": "rs755681471", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755681471" }, { "id": "rs755681471", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755681471#frequency_tab" }, { "id": "rs755681471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755681471" } ], "glycoeffect": [], "start_pos": 894, "end_pos": 894, "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647583", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R894", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" } ], "glycoeffect": [], "start_pos": 894, "end_pos": 894, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12647581", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R894", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs755681471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755681471" }, { "id": "rs755681471", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755681471" }, { "id": "rs755681471", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755681471#frequency_tab" }, { "id": "rs755681471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755681471" } ], "glycoeffect": [], "start_pos": 894, "end_pos": 894, "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647583", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R894", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1195402115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195402115" }, { "id": "rs1195402115", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195402115#frequency_tab" }, { "id": "rs1195402115", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195402115" } ], "glycoeffect": [], "start_pos": 897, "end_pos": 897, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647573", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P897", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs1195402115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195402115" }, { "id": "rs1195402115", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195402115#frequency_tab" }, { "id": "rs1195402115", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1195402115" } ], "glycoeffect": [], "start_pos": 897, "end_pos": 897, "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "19", "chr_pos": "12647573", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P897", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1272182872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272182872" }, { "id": "rs1272182872", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272182872" } ], "glycoeffect": [], "start_pos": 898, "end_pos": 898, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647570", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P898", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2145221936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2145221936" }, { "id": "rs2145221936", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2145221936" } ], "glycoeffect": [], "start_pos": 898, "end_pos": 898, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647571", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P898", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2512484944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512484944" } ], "glycoeffect": [], "start_pos": 898, "end_pos": 898, "sequence_org": "P", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647527_12647572", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P898", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs767323371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767323371" }, { "id": "rs767323371", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767323371" }, { "id": "rs767323371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767323371#frequency_tab" }, { "id": "rs767323371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767323371" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 899, "end_pos": 899, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12647567", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S899", "disease": [ { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "O00754", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00754" }, { "id": "rs767323371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767323371" }, { "id": "rs767323371", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767323371" }, { "id": "rs767323371", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767323371#frequency_tab" }, { "id": "rs767323371", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767323371" }, { "id": "rs767323371", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs767323371" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 899, "end_pos": 899, "subjects_tested": "1906", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "12647567", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S899", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "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" } ] }, { "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:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "recommended_name": { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." }, "synonyms": [ { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "DOID:3413", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3413", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-D-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "alpha-mannosidosis", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "deficiency of alpha-mannosidase", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha-, types I and II", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "Alpha-mannosidase B deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "MANSA", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "lysosomal Alpha-D-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, ALPHA B, lysosomal", "description": "" }, { "id": "MONDO:0009561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009561", "name": "mannosidosis, alpha B lysosomal", "description": "" }, { "id": "MIM:248500", "resource": "MIM", "url": "https://www.omim.org/entry/248500", "name": "Mannosidosis, alpha B, lysosomal", "description": "Mannosidosis, alpha B, lysosomal" } ], "unlinked_id_list": [], "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ] } }