{
    "disease_id": "DOID:0111333",
    "recommended_name": {
        "id": "DOID:0111333",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111333",
        "name": "congenital myopathy 10A",
        "description": "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111333",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111333",
            "name": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset",
            "description": ""
        },
        {
            "id": "DOID:0111333",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111333",
            "name": "EMARDD",
            "description": ""
        },
        {
            "id": "DOID:0111333",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111333",
            "name": "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "MEGF10-related myopathy",
            "description": "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy."
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "MEGF10 myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "MEGF10-related myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "congenital myopathy 10A, severe variant",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "EMARDD",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "early-onset myopathy, areflexia, respiratory distress and dysphagia",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "myopathy, areflexia, respiratory distress, and dysphagia, early-onset",
            "description": ""
        },
        {
            "id": "MIM:614399",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614399",
            "name": "Congenital myopathy 10A, severe variant",
            "description": "Congenital myopathy 10A, severe variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111333"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111333",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111333",
            "categories": []
        },
        {
            "id": "MONDO:0013731",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "categories": []
        },
        {
            "id": "MIM:614399",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614399",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A9W2-1",
            "uniprot_ac": "A0AB13A9W2",
            "uniprot_id": "A0AB13A9W2_DANRE",
            "refseq_ac": "NP_001410717",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multiple epidermal growth factor-like domains protein 10",
                    "type": "recommended"
                },
                {
                    "name": "multiple EGF-like domains protein 10",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "megf10",
                    "type": "recommended"
                },
                {
                    "name": "fc33e05",
                    "type": "synonym"
                },
                {
                    "name": "megf10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc33e05",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A9W2-1",
            "evidence": [
                {
                    "id": "0111333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DIB5-1",
            "uniprot_ac": "Q6DIB5",
            "uniprot_id": "MEG10_MOUSE",
            "refseq_ac": "NP_001001979",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multiple epidermal growth factor-like domains protein 10",
                    "type": "recommended"
                },
                {
                    "name": "Multiple EGF-like domains protein 10",
                    "type": "synonym"
                },
                {
                    "name": "multiple EGF-like domains protein 10",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Megf10",
                    "type": "recommended"
                },
                {
                    "name": "3000002B06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm331",
                    "type": "synonym"
                },
                {
                    "name": "Megf10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DIB5-1",
            "evidence": [
                {
                    "id": "0111333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96KG7-1",
            "uniprot_ac": "Q96KG7",
            "uniprot_id": "MEG10_HUMAN",
            "refseq_ac": "NP_001243474",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multiple epidermal growth factor-like domains protein 10",
                    "type": "recommended"
                },
                {
                    "name": "Multiple EGF-like domains protein 10",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 10 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEGF10",
                    "type": "recommended"
                },
                {
                    "name": "CMYO10A",
                    "type": "synonym"
                },
                {
                    "name": "CMYO10B",
                    "type": "synonym"
                },
                {
                    "name": "CMYP10A",
                    "type": "synonym"
                },
                {
                    "name": "CMYP10B",
                    "type": "synonym"
                },
                {
                    "name": "EMARDD",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1780",
                    "type": "synonym"
                },
                {
                    "name": "MEGF10",
                    "type": "synonym"
                },
                {
                    "name": "SR-F3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96KG7-1",
            "evidence": [
                {
                    "id": "614399",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614399"
                },
                {
                    "id": "0111333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAP4-1",
            "uniprot_ac": "F1MAP4",
            "uniprot_id": "F1MAP4_RAT",
            "refseq_ac": "NP_001094127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multiple epidermal growth factor-like domains protein 10",
                    "type": "recommended"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Megf10",
                    "type": "recommended"
                },
                {
                    "name": "Megf10",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAP4-1",
            "evidence": [
                {
                    "id": "0111333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111333"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0A0-1",
            "uniprot_ac": "Q9W0A0",
            "uniprot_id": "DRPR_DROME",
            "refseq_ac": "NP_001246549",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein draper",
                    "type": "recommended"
                },
                {
                    "name": "CG2086-PC",
                    "type": "synonym"
                },
                {
                    "name": "draper, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "draper",
                    "type": "synonym"
                },
                {
                    "name": "drpr-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "drpr",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH03529",
                    "type": "synonym"
                },
                {
                    "name": "CED-1",
                    "type": "synonym"
                },
                {
                    "name": "CG18172",
                    "type": "synonym"
                },
                {
                    "name": "CG2086",
                    "type": "synonym"
                },
                {
                    "name": "CT41022",
                    "type": "synonym"
                },
                {
                    "name": "CT6730",
                    "type": "synonym"
                },
                {
                    "name": "DRPR",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2086",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2086",
                    "type": "synonym"
                },
                {
                    "name": "Draper I",
                    "type": "synonym"
                },
                {
                    "name": "Draper",
                    "type": "synonym"
                },
                {
                    "name": "Drpr",
                    "type": "synonym"
                },
                {
                    "name": "Megf10",
                    "type": "synonym"
                },
                {
                    "name": "drpr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0A0-1",
            "evidence": [
                {
                    "id": "0111333",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111333"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111333"
}