{
    "disease_id": "DOID:0110673",
    "recommended_name": {
        "id": "DOID:0110673",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110673",
        "name": "congenital myasthenic syndrome 19",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110673",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110673",
            "name": "CMS19",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "congenital myasthenic syndrome 19",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene."
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "CMS19",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "COL13A1 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "congenital myasthenic syndrome caused by mutation in COL13A1",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "congenital myasthenic syndrome type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "myasthenic syndrome, congenital, 19",
            "description": ""
        },
        {
            "id": "MONDO:0014745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "name": "myasthenic syndrome, congenital, type 19",
            "description": ""
        },
        {
            "id": "MIM:616720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616720",
            "name": "Myasthenic syndrome, congenital, 19",
            "description": "Myasthenic syndrome, congenital, 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110673"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110673",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110673",
            "categories": []
        },
        {
            "id": "MONDO:0014745",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014745",
            "categories": []
        },
        {
            "id": "MIM:616720",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616720",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R1N9-1",
            "uniprot_ac": "Q9R1N9",
            "uniprot_id": "CODA1_MOUSE",
            "refseq_ac": "NP_031757",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XIII) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-1(XIII) chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XIII) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type XIII, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "type XIII collagen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col13a1",
                    "type": "recommended"
                },
                {
                    "name": "Col13a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1N9-1",
            "evidence": [
                {
                    "id": "0110673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TAT6-1",
            "uniprot_ac": "Q5TAT6",
            "uniprot_id": "CODA1_HUMAN",
            "refseq_ac": "NP_001123575",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XIII) chain",
                    "type": "recommended"
                },
                {
                    "name": "COLXIIIA1",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XIII) chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XIII) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XIII, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL13A1",
                    "type": "recommended"
                },
                {
                    "name": "CMS19",
                    "type": "synonym"
                },
                {
                    "name": "COL13A1",
                    "type": "synonym"
                },
                {
                    "name": "COLXIIIA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TAT6-1",
            "evidence": [
                {
                    "id": "616720",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616720"
                },
                {
                    "id": "0110673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GBH4-1",
            "uniprot_ac": "A0A8I6GBH4",
            "uniprot_id": "A0A8I6GBH4_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": "Collagen type XIII alpha 1 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col13a1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GBH4-1",
            "evidence": [
                {
                    "id": "0110673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63276-1",
            "uniprot_ac": "Q63276",
            "uniprot_id": "BAAT_RAT",
            "refseq_ac": "NP_058996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bile acid-CoA:amino acid N-acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.65",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.27",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "BACAT",
                    "type": "synonym"
                },
                {
                    "name": "BAT",
                    "type": "synonym"
                },
                {
                    "name": "Bile acid-CoA thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "Choloyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Glycine N-choloyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Kan-1",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain fatty-acyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-CoA thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-CoA:amino acid N-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-Coenzyme A dehydrogenase: amino acid n-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "bile acid-Coenzyme A: amino acid N-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "choloyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "glycine N-choloyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty-acyl-CoA hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Baat",
                    "type": "recommended"
                },
                {
                    "name": "Baat",
                    "type": "synonym"
                },
                {
                    "name": "kan-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63276-1",
            "evidence": [
                {
                    "id": "0110673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z0K8-1",
            "uniprot_ac": "B7Z0K8",
            "uniprot_id": "COLL1_DROME",
            "refseq_ac": "NP_001138061",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha chain CG42342",
                    "type": "recommended"
                },
                {
                    "name": "CG42342-PD",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG11769",
                    "type": "recommended"
                },
                {
                    "name": "CG14888",
                    "type": "recommended"
                },
                {
                    "name": "CG14889",
                    "type": "recommended"
                },
                {
                    "name": "CG14890",
                    "type": "recommended"
                },
                {
                    "name": "CG42243",
                    "type": "recommended"
                },
                {
                    "name": "CG11769",
                    "type": "synonym"
                },
                {
                    "name": "CG14888",
                    "type": "synonym"
                },
                {
                    "name": "CG14889",
                    "type": "synonym"
                },
                {
                    "name": "CG14890",
                    "type": "synonym"
                },
                {
                    "name": "CG42243",
                    "type": "synonym"
                },
                {
                    "name": "CG42342",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42342",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42342",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z0K8-1",
            "evidence": [
                {
                    "id": "0110673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110673"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110673"
}