{ "disease_id": "DOID:0111225", "recommended_name": { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111225", "name": "centronuclear myopathy X-linked", "description": "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28." }, "synonyms": [ { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111225", "name": "CNMX", "description": "" }, { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111225", "name": "MTM1", "description": "" }, { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111225", "name": "X-linked myotubular myopathy", "description": "" }, { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111225", "name": "XLCNM", "description": "" }, { "id": "DOID:0111225", 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "X-linked myotubular myopathy", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "XLCNM", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "XLMTM", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "centronuclear myopathy, X-linked", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "myotubular myopathy, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "CNMX", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "myopathy, centronuclear, X-linked", "description": "" }, { "id": "MIM:310400", "resource": "MIM", "url": "https://www.omim.org/entry/310400", "name": "Myopathy, centronuclear, X-linked", "description": "Myopathy, centronuclear, X-linked" } ], "children": [], "id_list": [ "DOID:0111225" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0111225", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111225", "categories": [] }, { "id": "MONDO:0010683", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "categories": [] }, { "id": "MIM:310400", "database": "MIM", "url": "https://www.omim.org/entry/310400", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M1N853-1", "uniprot_ac": "A0A8M1N853", "uniprot_id": "A0A8M1N853_DANRE", "refseq_ac": "NP_001032773", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": 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"common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase", "type": "recommended" }, { "name": "3.1.3.95", "type": "synonym" }, { "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase", "type": "synonym" }, { "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "mtmr4", "type": "recommended" }, { "name": "mtmr4", "type": "synonym" } ], "record_id": "A0AB32TRB3-1", "evidence": [ { "id": "0111225", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111225" } ] }, { "uniprot_canonical_ac": "Q9Z2C5-1", "uniprot_ac": "Q9Z2C5", "uniprot_id": "MTM1_MOUSE", "refseq_ac": "NP_001157662", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], 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], "record_id": "Q9Y217-1", "evidence": [ { "id": "0111225", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111225" } ] }, { "uniprot_canonical_ac": "Q96EF0-1", "uniprot_ac": "Q96EF0", "uniprot_id": "MTMR8_HUMAN", "refseq_ac": "NP_060147", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8", "type": "recommended" }, { "name": "3.1.3.95", "type": "synonym" }, { "name": "Myotubularin-related protein 8", "type": "synonym" }, { "name": "Phosphatidylinositol-3-phosphate phosphatase", "type": "synonym" }, { "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8", "type": "synonym" }, { "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase", "type": "synonym" }, { "name": "phosphatidylinositol-3-phosphate phosphatase", "type": "synonym" } ], 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"glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphatidylinositol-3-phosphate phosphatase MTMR7", "type": "recommended" }, { "name": "3.1.3.64", "type": "synonym" }, { "name": "Inositol 1,3-bisphosphate phosphatase", "type": "synonym" }, { "name": "Myotubularin-related protein 7", "type": "synonym" }, { "name": "inositol 1,3-bisphosphate phosphatase", "type": "synonym" }, { "name": "phosphatidylinositol-3-phosphate phosphatase MTMR7", "type": "synonym" }, { "name": "phosphatidylinositol-3-phosphate phosphatase", "type": "synonym" } ], "gene_names": [ { "name": "MTMR7", "type": "recommended" }, { "name": "MTMR7", "type": "synonym" } ], "record_id": "Q9Y216-1", "evidence": [ { "id": "0111225", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111225" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0111225" }