{
    "disease_id": "DOID:0110674",
    "recommended_name": {
        "id": "DOID:0110674",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110674",
        "name": "congenital myasthenic syndrome 17",
        "description": "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110674",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110674",
            "name": "CMS17",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "congenital myasthenic syndrome 17",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene."
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "CMS17",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "LRP4 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "congenital myasthenic syndrome caused by mutation in LRP4",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "congenital myasthenic syndrome type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "myasthenic syndrome, congenital, type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "name": "myasthenic syndrome, congenital, 17",
            "description": ""
        },
        {
            "id": "MIM:616304",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616304",
            "name": "Myasthenic syndrome, congenital, 17",
            "description": "Myasthenic syndrome, congenital, 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110674"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110674",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110674",
            "categories": []
        },
        {
            "id": "MONDO:0014578",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014578",
            "categories": []
        },
        {
            "id": "MIM:616304",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616304",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VI56-1",
            "uniprot_ac": "Q8VI56",
            "uniprot_id": "LRP4_MOUSE",
            "refseq_ac": "NP_001139329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 4",
                    "type": "recommended"
                },
                {
                    "name": "LDLR dan",
                    "type": "synonym"
                },
                {
                    "name": "LRP-4",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 4 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp4",
                    "type": "recommended"
                },
                {
                    "name": "6430526J12Rik",
                    "type": "synonym"
                },
                {
                    "name": "D230026E03",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0816",
                    "type": "synonym"
                },
                {
                    "name": "Lrp4",
                    "type": "synonym"
                },
                {
                    "name": "Megf7",
                    "type": "synonym"
                },
                {
                    "name": "mdig",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VI56-1",
            "evidence": [
                {
                    "id": "0110674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110674"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75096-1",
            "uniprot_ac": "O75096",
            "uniprot_id": "LRP4_HUMAN",
            "refseq_ac": "NP_002325",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 4",
                    "type": "recommended"
                },
                {
                    "name": "LRP-4",
                    "type": "synonym"
                },
                {
                    "name": "Multiple epidermal growth factor-like domains 7",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 4",
                    "type": "synonym"
                },
                {
                    "name": "multiple EGF like domains 7",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP4",
                    "type": "recommended"
                },
                {
                    "name": "CLSS",
                    "type": "synonym"
                },
                {
                    "name": "CMS17",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0816",
                    "type": "synonym"
                },
                {
                    "name": "LRP-4",
                    "type": "synonym"
                },
                {
                    "name": "LRP10",
                    "type": "synonym"
                },
                {
                    "name": "LRP4",
                    "type": "synonym"
                },
                {
                    "name": "MEGF7",
                    "type": "synonym"
                },
                {
                    "name": "SOST2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75096-1",
            "evidence": [
                {
                    "id": "616304",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616304"
                },
                {
                    "id": "0110674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110674"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYP1-1",
            "uniprot_ac": "Q9QYP1",
            "uniprot_id": "LRP4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 4",
                    "type": "recommended"
                },
                {
                    "name": "LRP-4",
                    "type": "synonym"
                },
                {
                    "name": "Multiple epidermal growth factor-like domains 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp4",
                    "type": "recommended"
                },
                {
                    "name": "Megf7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYP1-1",
            "evidence": [
                {
                    "id": "0110674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110674"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXM0-1",
            "uniprot_ac": "Q9VXM0",
            "uniprot_id": "LRP4_DROME",
            "refseq_ac": "NP_727914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 4",
                    "type": "recommended"
                },
                {
                    "name": "CG8909-PB",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor related protein 4, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor-related protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Lrp4-PB",
                    "type": "synonym"
                },
                {
                    "name": "yolkless-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp4",
                    "type": "recommended"
                },
                {
                    "name": "CG8909",
                    "type": "synonym"
                },
                {
                    "name": "CT25574",
                    "type": "synonym"
                },
                {
                    "name": "Dm CG8909",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8909",
                    "type": "synonym"
                },
                {
                    "name": "LRP4",
                    "type": "synonym"
                },
                {
                    "name": "Lrp4",
                    "type": "synonym"
                },
                {
                    "name": "lrp4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXM0-1",
            "evidence": [
                {
                    "id": "0110674",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110674"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110674"
}