{
    "disease_id": "DOID:0081163",
    "recommended_name": {
        "id": "DOID:0081163",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081163",
        "name": "dilated cardiomyopathy 2G",
        "description": "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0030887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030887",
            "name": "cardiomyopathy, dilated, 2G",
            "description": "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31."
        },
        {
            "id": "MONDO:0030887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030887",
            "name": "CMD2G",
            "description": ""
        },
        {
            "id": "MONDO:0030887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030887",
            "name": "cardiomyopathy, dilated, 2G",
            "description": ""
        },
        {
            "id": "MIM:619897",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619897",
            "name": "Cardiomyopathy, dilated, 2G",
            "description": "Cardiomyopathy, dilated, 2G"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081163"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081163",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081163",
            "categories": []
        },
        {
            "id": "MONDO:0030887",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030887",
            "categories": []
        },
        {
            "id": "MIM:619897",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619897",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q5L7-1",
            "uniprot_ac": "F1Q5L7",
            "uniprot_id": "F1Q5L7_DANRE",
            "refseq_ac": "XP_005164550",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leiomodin-2",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lmod2b",
                    "type": "recommended"
                },
                {
                    "name": "lmod2b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q5L7-1",
            "evidence": [
                {
                    "id": "0081163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R8RJX3-1",
            "uniprot_ac": "A0A2R8RJX3",
            "uniprot_id": "A0A2R8RJX3_DANRE",
            "refseq_ac": "NP_001004616",
            "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-2a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lmod2a",
                    "type": "recommended"
                },
                {
                    "name": "lmod2a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103424",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8RJX3-1",
            "evidence": [
                {
                    "id": "0081163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UHZ5-1",
            "uniprot_ac": "Q3UHZ5",
            "uniprot_id": "LMOD2_MOUSE",
            "refseq_ac": "NP_444328",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leiomodin-2",
                    "type": "recommended"
                },
                {
                    "name": "C-LMOD",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "Leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "cardiac leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmod2",
                    "type": "recommended"
                },
                {
                    "name": "C-Lmod",
                    "type": "synonym"
                },
                {
                    "name": "Lmod2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UHZ5-1",
            "evidence": [
                {
                    "id": "0081163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P5Q4-1",
            "uniprot_ac": "Q6P5Q4",
            "uniprot_id": "LMOD2_HUMAN",
            "refseq_ac": "NP_997046",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leiomodin-2",
                    "type": "recommended"
                },
                {
                    "name": "C-LMOD",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "Leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "cardiac leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin 2 (cardiac)",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMOD2",
                    "type": "recommended"
                },
                {
                    "name": "C-LMOD",
                    "type": "synonym"
                },
                {
                    "name": "CLMOD",
                    "type": "synonym"
                },
                {
                    "name": "CMD2G",
                    "type": "synonym"
                },
                {
                    "name": "LMOD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P5Q4-1",
            "evidence": [
                {
                    "id": "619897",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619897"
                },
                {
                    "id": "0081163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1A5Q0-1",
            "uniprot_ac": "A1A5Q0",
            "uniprot_id": "LMOD2_RAT",
            "refseq_ac": "NP_001094434",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leiomodin-2",
                    "type": "recommended"
                },
                {
                    "name": "C-LMOD",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "Leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "cardiac leiomodin",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin 2 (cardiac)",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin-2-like",
                    "type": "synonym"
                },
                {
                    "name": "leiomodin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmod2",
                    "type": "recommended"
                },
                {
                    "name": "Lmod2",
                    "type": "synonym"
                }
            ],
            "record_id": "A1A5Q0-1",
            "evidence": [
                {
                    "id": "0081163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081163"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081163"
}
