{
    "disease_id": "DOID:0110931",
    "recommended_name": {
        "id": "DOID:0110931",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110931",
        "name": "nemaline myopathy 10",
        "description": "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14."
    },
    "synonyms": [
        {
            "id": "DOID:0110931",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110931",
            "name": "NEM10",
            "description": ""
        },
        {
            "id": "DOID:0110931",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110931",
            "name": "congenital myopathy 10",
            "description": ""
        },
        {
            "id": "MONDO:0014513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014513",
            "name": "nemaline myopathy 10",
            "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene."
        },
        {
            "id": "MONDO:0014513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014513",
            "name": "LMOD3 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014513",
            "name": "NEM10",
            "description": ""
        },
        {
            "id": "MONDO:0014513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014513",
            "name": "nemaline myopathy 10",
            "description": ""
        },
        {
            "id": "MONDO:0014513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014513",
            "name": "nemaline myopathy caused by mutation in LMOD3",
            "description": ""
        },
        {
            "id": "MONDO:0014513",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014513",
            "name": "nemaline myopathy type 10",
            "description": ""
        },
        {
            "id": "MIM:616165",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616165",
            "name": "Nemaline myopathy 10",
            "description": "Nemaline myopathy 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110931"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110931",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110931",
            "categories": []
        },
        {
            "id": "MONDO:0014513",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014513",
            "categories": []
        },
        {
            "id": "MIM:616165",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616165",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F7X0-1",
            "uniprot_ac": "E7F7X0",
            "uniprot_id": "LMOD3_DANRE",
            "refseq_ac": "XP_021329266",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leiomodin-3",
                    "type": "recommended"
                },
                {
                    "name": "leiomodin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lmod3",
                    "type": "recommended"
                },
                {
                    "name": "lmod3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-90a13.7",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F7X0-1",
            "evidence": [
                {
                    "id": "0110931",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110931"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9QA62-1",
            "uniprot_ac": "E9QA62",
            "uniprot_id": "LMOD3_MOUSE",
            "refseq_ac": "NP_001074626",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leiomodin-3",
                    "type": "recommended"
                },
                {
                    "name": "leiomodin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmod3",
                    "type": "recommended"
                },
                {
                    "name": "5430424A14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lmod3",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QA62-1",
            "evidence": [
                {
                    "id": "0110931",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110931"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0VAK6-1",
            "uniprot_ac": "Q0VAK6",
            "uniprot_id": "LMOD3_HUMAN",
            "refseq_ac": "NP_001291347",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leiomodin-3",
                    "type": "recommended"
                },
                {
                    "name": "Leiomodin, fetal form",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin 3 (fetal)",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin, fetal form",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMOD3",
                    "type": "recommended"
                },
                {
                    "name": "LMOD3",
                    "type": "synonym"
                },
                {
                    "name": "NEM10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0VAK6-1",
            "evidence": [
                {
                    "id": "616165",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616165"
                },
                {
                    "id": "0110931",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110931"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A871-1",
            "uniprot_ac": "D4A871",
            "uniprot_id": "D4A871_RAT",
            "refseq_ac": "NP_001418766",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leiomodin-3",
                    "type": "recommended"
                },
                {
                    "name": "leiomodin 3 (fetal)",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmod3",
                    "type": "recommended"
                },
                {
                    "name": "Lmod3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564924",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A871-1",
            "evidence": [
                {
                    "id": "0110931",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110931"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110931"
}