{
    "disease_id": "DOID:0060212",
    "recommended_name": {
        "id": "DOID:0060212",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060212",
        "name": "amyotrophic lateral sclerosis type 21",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5."
    },
    "synonyms": [
        {
            "id": "DOID:0060212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060212",
            "name": "ALS21",
            "description": ""
        },
        {
            "id": "MONDO:0011632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011632",
            "name": "amyotrophic lateral sclerosis type 21",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene."
        },
        {
            "id": "MONDO:0011632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011632",
            "name": "ALS21",
            "description": ""
        },
        {
            "id": "MONDO:0011632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011632",
            "name": "MATR3 amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0011632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011632",
            "name": "amyotrophic lateral sclerosis caused by mutation in MATR3",
            "description": ""
        },
        {
            "id": "MONDO:0011632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011632",
            "name": "amyotrophic lateral sclerosis type 21",
            "description": ""
        },
        {
            "id": "MONDO:0011632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011632",
            "name": "amyotrophic lateral sclerosis 21",
            "description": ""
        },
        {
            "id": "MONDO:0011632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011632",
            "name": "myopathy, distal, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011632",
            "name": "vocal cord and pharyngeal dysfunction with distal myopathy",
            "description": ""
        },
        {
            "id": "MIM:606070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606070",
            "name": "Amyotrophic lateral sclerosis 21",
            "description": "Amyotrophic lateral sclerosis 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060212"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060212",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060212",
            "categories": []
        },
        {
            "id": "MONDO:0011632",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011632",
            "categories": []
        },
        {
            "id": "MIM:606070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606070",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K310-1",
            "uniprot_ac": "Q8K310",
            "uniprot_id": "MATR3_MOUSE",
            "refseq_ac": "NP_034901",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrin-3",
                    "type": "recommended"
                },
                {
                    "name": "matrin-3 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Matr3",
                    "type": "recommended"
                },
                {
                    "name": "1110061A14Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810017I02Rik",
                    "type": "synonym"
                },
                {
                    "name": "D030046F20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Matr3",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0723",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K310-1",
            "evidence": [
                {
                    "id": "0060212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43243-1",
            "uniprot_ac": "P43243",
            "uniprot_id": "MATR3_HUMAN",
            "refseq_ac": "NP_001181883",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrin-3",
                    "type": "recommended"
                },
                {
                    "name": "matrin-3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "vocal cord and pharyngeal weakness with distal myopathy",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MATR3",
                    "type": "recommended"
                },
                {
                    "name": "ALS21",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0723",
                    "type": "synonym"
                },
                {
                    "name": "MATR3",
                    "type": "synonym"
                },
                {
                    "name": "MPD2",
                    "type": "synonym"
                },
                {
                    "name": "VCPDM",
                    "type": "synonym"
                }
            ],
            "record_id": "P43243-1",
            "evidence": [
                {
                    "id": "606070",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606070"
                },
                {
                    "id": "0060212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43244-1",
            "uniprot_ac": "P43244",
            "uniprot_id": "MATR3_RAT",
            "refseq_ac": "NP_062022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrin-3",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear scaffold protein p130/MAT3",
                    "type": "synonym"
                },
                {
                    "name": "matrin-3",
                    "type": "synonym"
                },
                {
                    "name": "nuclear scaffold protein P130/MAT3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Matr3",
                    "type": "recommended"
                },
                {
                    "name": "Matr3",
                    "type": "synonym"
                },
                {
                    "name": "P130/MAT3",
                    "type": "synonym"
                },
                {
                    "name": "snhg4",
                    "type": "synonym"
                }
            ],
            "record_id": "P43244-1",
            "evidence": [
                {
                    "id": "0060212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15924-1",
            "uniprot_ac": "P15924",
            "uniprot_id": "DESP_HUMAN",
            "refseq_ac": "NP_001008844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoplakin",
                    "type": "recommended"
                },
                {
                    "name": "250/210 kDa paraneoplastic pemphigus antigen",
                    "type": "synonym"
                },
                {
                    "name": "DP",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin isoform II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSP",
                    "type": "recommended"
                },
                {
                    "name": "DCWHKTA",
                    "type": "synonym"
                },
                {
                    "name": "DP",
                    "type": "synonym"
                },
                {
                    "name": "DSP",
                    "type": "synonym"
                }
            ],
            "record_id": "P15924-1",
            "evidence": [
                {
                    "id": "0060212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060212"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060212"
}