{
    "disease_id": "DOID:0110658",
    "recommended_name": {
        "id": "DOID:0110658",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110658",
        "name": "congenital myasthenic syndrome 15",
        "description": "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110658",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110658",
            "name": "CMS15",
            "description": ""
        },
        {
            "id": "DOID:0110658",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110658",
            "name": "congenital myasthenic syndrome 15 without tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "congenital myasthenic syndrome 15",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene."
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "ALG14 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "CMS15",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "congenital myasthenic syndrome caused by mutation in ALG14",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "congenital myasthenic syndrome type 15",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "myasthenic syndrome, congenital, 15, without tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "myasthenic syndrome, congenital, type 15",
            "description": ""
        },
        {
            "id": "MONDO:0014542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "name": "myasthenic syndrome, congenital, 15",
            "description": ""
        },
        {
            "id": "MIM:616227",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616227",
            "name": "Myasthenic syndrome, congenital, 15",
            "description": "Myasthenic syndrome, congenital, 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110658"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110658",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110658",
            "categories": []
        },
        {
            "id": "MONDO:0014542",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014542",
            "categories": []
        },
        {
            "id": "MIM:616227",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616227",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D081-1",
            "uniprot_ac": "Q9D081",
            "uniprot_id": "ALG14_MOUSE",
            "refseq_ac": "NP_077140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14",
                    "type": "recommended"
                },
                {
                    "name": "Asparagine-linked glycosylation 14 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 14 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg14",
                    "type": "recommended"
                },
                {
                    "name": "5430428G01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Alg14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D081-1",
            "evidence": [
                {
                    "id": "0110658",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110658"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96F25-1",
            "uniprot_ac": "Q96F25",
            "uniprot_id": "ALG14_HUMAN",
            "refseq_ac": "NP_001292171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14",
                    "type": "recommended"
                },
                {
                    "name": "Asparagine-linked glycosylation 14 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG14",
                    "type": "recommended"
                },
                {
                    "name": "ALG14",
                    "type": "synonym"
                },
                {
                    "name": "CMS15",
                    "type": "synonym"
                },
                {
                    "name": "IDDEBF",
                    "type": "synonym"
                },
                {
                    "name": "MEPCA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96F25-1",
            "evidence": [
                {
                    "id": "0014542",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014542"
                },
                {
                    "id": "616227",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616227"
                },
                {
                    "id": "ALG14",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG14/#!details"
                },
                {
                    "id": "0110658",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110658"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38242-1",
            "uniprot_ac": "P38242",
            "uniprot_id": "ALG14_YEAST",
            "refseq_ac": "NP_009626",
            "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": "UDP-N-acetylglucosamine transferase subunit ALG14",
                    "type": "recommended"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 14",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase anchoring subunit ALG14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG14",
                    "type": "recommended"
                },
                {
                    "name": "ALG14",
                    "type": "synonym"
                },
                {
                    "name": "YBR0711",
                    "type": "synonym"
                }
            ],
            "record_id": "P38242-1",
            "evidence": [
                {
                    "id": "0110658",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110658"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY85-1",
            "uniprot_ac": "Q6AY85",
            "uniprot_id": "ALG14_RAT",
            "refseq_ac": "NP_001014198",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14",
                    "type": "recommended"
                },
                {
                    "name": "Asparagine-linked glycosylation 14 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 14 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg14",
                    "type": "recommended"
                },
                {
                    "name": "Alg14",
                    "type": "synonym"
                },
                {
                    "name": "RGD1312003",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY85-1",
            "evidence": [
                {
                    "id": "0110658",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110658"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXU7-1",
            "uniprot_ac": "Q9VXU7",
            "uniprot_id": "Q9VXU7_DROME",
            "refseq_ac": "NP_573031",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine transferase subunit ALG14",
                    "type": "recommended"
                },
                {
                    "name": "ALG14, UDP-N-acetylglucosaminyltransferase subunit",
                    "type": "synonym"
                },
                {
                    "name": "Alg14-PA",
                    "type": "synonym"
                },
                {
                    "name": "B-1,4N-acglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "CG6308-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg14",
                    "type": "recommended"
                },
                {
                    "name": "ALG14",
                    "type": "synonym"
                },
                {
                    "name": "Alg14",
                    "type": "synonym"
                },
                {
                    "name": "CG6308",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6308",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6308",
                    "type": "synonym"
                },
                {
                    "name": "dAlg14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXU7-1",
            "evidence": [
                {
                    "id": "0110658",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110658"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110658"
}