{
    "disease_id": "DOID:0080308",
    "recommended_name": {
        "id": "DOID:0080308",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080308",
        "name": "myofibrillar myopathy 8",
        "description": "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myofibrillar myopathy 8",
            "description": "Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene."
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "PYROXD1 myofibrillar myopathy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myofibrillar myopathy (disease) caused by mutation in PYROXD1",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myofibrillar myopathy 8",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myopathy, myofibrillar, 8",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myopathy, myofibrillar, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "MFM8",
            "description": ""
        },
        {
            "id": "MIM:617258",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617258",
            "name": "Myopathy, myofibrillar, 8",
            "description": "Myopathy, myofibrillar, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080308"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080308",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080308",
            "categories": []
        },
        {
            "id": "MONDO:0014993",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "categories": []
        },
        {
            "id": "MIM:617258",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617258",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PBT5-1",
            "uniprot_ac": "Q6PBT5",
            "uniprot_id": "PYRD1_DANRE",
            "refseq_ac": "NP_957057",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.1",
                    "type": "synonym"
                },
                {
                    "name": "Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pyroxd1",
                    "type": "recommended"
                },
                {
                    "name": "pyroxd1",
                    "type": "synonym"
                },
                {
                    "name": "ryroxd1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73254",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PBT5-1",
            "evidence": [
                {
                    "id": "0080308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080308"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TMV7-1",
            "uniprot_ac": "Q3TMV7",
            "uniprot_id": "PYRD1_MOUSE",
            "refseq_ac": "NP_898988",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.1",
                    "type": "synonym"
                },
                {
                    "name": "Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pyroxd1",
                    "type": "recommended"
                },
                {
                    "name": "Pyroxd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TMV7-1",
            "evidence": [
                {
                    "id": "0080308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080308"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WU10-1",
            "uniprot_ac": "Q8WU10",
            "uniprot_id": "PYRD1_HUMAN",
            "refseq_ac": "NP_079130",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.1",
                    "type": "synonym"
                },
                {
                    "name": "Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PYROXD1",
                    "type": "recommended"
                },
                {
                    "name": "MFM8",
                    "type": "synonym"
                },
                {
                    "name": "PYROXD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WU10-1",
            "evidence": [
                {
                    "id": "617258",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617258"
                },
                {
                    "id": "0080308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080308"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FS6-1",
            "uniprot_ac": "Q68FS6",
            "uniprot_id": "PYRD1_RAT",
            "refseq_ac": "NP_001004234",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.1",
                    "type": "synonym"
                },
                {
                    "name": "Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pyroxd1",
                    "type": "recommended"
                },
                {
                    "name": "Pyroxd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FS6-1",
            "evidence": [
                {
                    "id": "0080308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080308"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIP2-1",
            "uniprot_ac": "Q9VIP2",
            "uniprot_id": "PYRD1_DROME",
            "refseq_ac": "NP_001260619",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.1",
                    "type": "synonym"
                },
                {
                    "name": "CG10721-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Pyroxd1-PB",
                    "type": "synonym"
                },
                {
                    "name": "pyridine nucleotide-disulfide oxidoreductase domain 1, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pyroxd1",
                    "type": "recommended"
                },
                {
                    "name": "38B.14",
                    "type": "synonym"
                },
                {
                    "name": "CG10721",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10721",
                    "type": "synonym"
                },
                {
                    "name": "Pyroxd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIP2-1",
            "evidence": [
                {
                    "id": "0080308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080308"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080308"
}