{
    "disease_id": "DOID:0081160",
    "recommended_name": {
        "id": "DOID:0081160",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081160",
        "name": "dilated cardiomyopathy 2D",
        "description": "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030300",
            "name": "cardiomyopathy, dilated, 2D",
            "description": "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13."
        },
        {
            "id": "MONDO:0030300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030300",
            "name": "CMD2D",
            "description": ""
        },
        {
            "id": "MONDO:0030300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030300",
            "name": "cardiomyopathy, dilated, 2D",
            "description": ""
        },
        {
            "id": "MIM:619371",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619371",
            "name": "Cardiomyopathy, dilated, 2D",
            "description": "Cardiomyopathy, dilated, 2D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081160"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081160",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081160",
            "categories": []
        },
        {
            "id": "MONDO:0030300",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030300",
            "categories": []
        },
        {
            "id": "MIM:619371",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619371",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9PWZ3-1",
            "uniprot_ac": "E9PWZ3",
            "uniprot_id": "RL3L_MOUSE",
            "refseq_ac": "NP_001157417",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL3-like",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L3-like",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL3-like isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL3-like",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L3 pseudogene",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl3l",
                    "type": "recommended"
                },
                {
                    "name": "1110057H16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rpl3l",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PWZ3-1",
            "evidence": [
                {
                    "id": "0081160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081160"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92901-1",
            "uniprot_ac": "Q92901",
            "uniprot_id": "RL3L_HUMAN",
            "refseq_ac": "NP_005052",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal protein uL3-like",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L3-like",
                    "type": "synonym"
                },
                {
                    "name": "Large ribosomal subunit protein uL3-like",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein uL3-like",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein uL3-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL3L",
                    "type": "recommended"
                },
                {
                    "name": "CMD2D",
                    "type": "synonym"
                },
                {
                    "name": "RPL3L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92901-1",
            "evidence": [
                {
                    "id": "619371",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619371"
                },
                {
                    "id": "0081160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081160"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14126-1",
            "uniprot_ac": "P14126",
            "uniprot_id": "RL3_YEAST",
            "refseq_ac": "NP_014706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL3",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L3",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein uL3 RPL3",
                    "type": "synonym"
                },
                {
                    "name": "Maintenance of killer protein 8",
                    "type": "synonym"
                },
                {
                    "name": "RP1",
                    "type": "synonym"
                },
                {
                    "name": "Trichodermin resistance protein",
                    "type": "synonym"
                },
                {
                    "name": "YL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL3",
                    "type": "recommended"
                },
                {
                    "name": "MAK8",
                    "type": "synonym"
                },
                {
                    "name": "RPL3",
                    "type": "synonym"
                },
                {
                    "name": "TCM1",
                    "type": "synonym"
                },
                {
                    "name": "YOR29-14",
                    "type": "synonym"
                }
            ],
            "record_id": "P14126-1",
            "evidence": [
                {
                    "id": "0081160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081160"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9G1-1",
            "uniprot_ac": "D4A9G1",
            "uniprot_id": "D4A9G1_RAT",
            "refseq_ac": "NP_001178518",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "60S ribosomal protein L3-like",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L3-like",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein uL3-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl3l",
                    "type": "recommended"
                },
                {
                    "name": "Rpl3l",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A9G1-1",
            "evidence": [
                {
                    "id": "0081160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081160"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O16797-1",
            "uniprot_ac": "O16797",
            "uniprot_id": "RL3_DROME",
            "refseq_ac": "NP_524316",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein uL3",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L3",
                    "type": "synonym"
                },
                {
                    "name": "CG4863-PA",
                    "type": "synonym"
                },
                {
                    "name": "RpL3-PA",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L3, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL3",
                    "type": "recommended"
                },
                {
                    "name": "CG4863",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4863",
                    "type": "synonym"
                },
                {
                    "name": "L3",
                    "type": "synonym"
                },
                {
                    "name": "RpL3",
                    "type": "synonym"
                },
                {
                    "name": "Rpl3",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:GressD4",
                    "type": "synonym"
                },
                {
                    "name": "chr3R:7047878..7048035",
                    "type": "synonym"
                },
                {
                    "name": "rpL3",
                    "type": "synonym"
                }
            ],
            "record_id": "O16797-1",
            "evidence": [
                {
                    "id": "0081160",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081160"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081160"
}