{
    "disease_id": "DOID:0110667",
    "recommended_name": {
        "id": "DOID:0110667",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110667",
        "name": "congenital myasthenic syndrome 5",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110667",
            "name": "CMS Ic",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110667",
            "name": "CMS5",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110667",
            "name": "EAD",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110667",
            "name": "Engel congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110667",
            "name": "congenital myasthenic syndrome Engel type",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110667",
            "name": "congenital myasthenic syndrome type Ic",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110667",
            "name": "end plate acetylcholinesterase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome 5",
            "description": "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "CMS5",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "COLQ congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "EAD",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "Engel congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome caused by mutation in COLQ",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "myasthenic syndrome, congenital, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "Cms Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "myasthenic syndrome, congenital, 5",
            "description": ""
        },
        {
            "id": "MIM:603034",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603034",
            "name": "Myasthenic syndrome, congenital, 5",
            "description": "Myasthenic syndrome, congenital, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110667"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110667",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110667",
            "categories": []
        },
        {
            "id": "MONDO:0011281",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "categories": []
        },
        {
            "id": "MIM:603034",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603034",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q7Y1-1",
            "uniprot_ac": "F1Q7Y1",
            "uniprot_id": "F1Q7Y1_DANRE",
            "refseq_ac": "XP_005158029",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholinesterase collagenic tail peptide isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase collagenic tail peptide isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "colq",
                    "type": "recommended"
                },
                {
                    "name": "colq",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q7Y1-1",
            "evidence": [
                {
                    "id": "0110667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1Q7R8-1",
            "uniprot_ac": "A0A8M1Q7R8",
            "uniprot_id": "A0A8M1Q7R8_DANRE",
            "refseq_ac": "XP_001343145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein wu:fc38h03",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein wu:fc38h03",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wu:fc38h03",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1Q7R8-1",
            "evidence": [
                {
                    "id": "0110667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35348-1",
            "uniprot_ac": "O35348",
            "uniprot_id": "COLQ_MOUSE",
            "refseq_ac": "NP_034067",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholinesterase collagenic tail peptide",
                    "type": "recommended"
                },
                {
                    "name": "AChE Q subunit",
                    "type": "synonym"
                },
                {
                    "name": "Acetylcholinesterase-associated collagen",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase collagenic tail peptide precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase collagenic tail peptide",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase-associated collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Colq",
                    "type": "recommended"
                },
                {
                    "name": "A130034K24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Colq",
                    "type": "synonym"
                }
            ],
            "record_id": "O35348-1",
            "evidence": [
                {
                    "id": "0110667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y215-1",
            "uniprot_ac": "Q9Y215",
            "uniprot_id": "COLQ_HUMAN",
            "refseq_ac": "NP_005668",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholinesterase collagenic tail peptide",
                    "type": "recommended"
                },
                {
                    "name": "AChE Q subunit",
                    "type": "synonym"
                },
                {
                    "name": "Acetylcholinesterase-associated collagen",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase collagenic tail peptide isoform I precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase collagenic tail peptide",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase-associated collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase",
                    "type": "synonym"
                },
                {
                    "name": "collagenic tail of endplate acetylcholinesterase",
                    "type": "synonym"
                },
                {
                    "name": "single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COLQ",
                    "type": "recommended"
                },
                {
                    "name": "CMS5",
                    "type": "synonym"
                },
                {
                    "name": "COLQ",
                    "type": "synonym"
                },
                {
                    "name": "EAD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y215-1",
            "evidence": [
                {
                    "id": "603034",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603034"
                },
                {
                    "id": "0110667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35167-1",
            "uniprot_ac": "O35167",
            "uniprot_id": "COLQ_RAT",
            "refseq_ac": "NP_062147",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholinesterase collagenic tail peptide",
                    "type": "recommended"
                },
                {
                    "name": "AChE Q subunit",
                    "type": "synonym"
                },
                {
                    "name": "Acetylcholinesterase-associated collagen",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase collagenic tail peptide precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase collagenic tail peptide",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholinesterase-associated collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Colq",
                    "type": "recommended"
                },
                {
                    "name": "Colq",
                    "type": "synonym"
                }
            ],
            "record_id": "O35167-1",
            "evidence": [
                {
                    "id": "0110667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88677-1",
            "uniprot_ac": "O88677",
            "uniprot_id": "BTG3_RAT",
            "refseq_ac": "NP_062163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein BTG3",
                    "type": "recommended"
                },
                {
                    "name": "B-cell translocation gene 3",
                    "type": "synonym"
                },
                {
                    "name": "BTG family member 3",
                    "type": "synonym"
                },
                {
                    "name": "BTG family, member 3",
                    "type": "synonym"
                },
                {
                    "name": "protein BTG3",
                    "type": "synonym"
                },
                {
                    "name": "rBTG3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Btg3",
                    "type": "recommended"
                },
                {
                    "name": "Btg3",
                    "type": "synonym"
                }
            ],
            "record_id": "O88677-1",
            "evidence": [
                {
                    "id": "0110667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110667"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P2C8-1",
            "uniprot_ac": "Q6P2C8",
            "uniprot_id": "MED27_HUMAN",
            "refseq_ac": "NP_001240810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 27",
                    "type": "recommended"
                },
                {
                    "name": "CRSP complex subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 27",
                    "type": "synonym"
                },
                {
                    "name": "P37 TRAP/SMCC/PC2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional coactivator CRSP34",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 27 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 27",
                    "type": "synonym"
                },
                {
                    "name": "p37 TRAP/SMCC/PC2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator CRSP34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED27",
                    "type": "recommended"
                },
                {
                    "name": "CRAP34",
                    "type": "synonym"
                },
                {
                    "name": "CRSP34",
                    "type": "synonym"
                },
                {
                    "name": "CRSP8",
                    "type": "synonym"
                },
                {
                    "name": "MED27",
                    "type": "synonym"
                },
                {
                    "name": "MED3",
                    "type": "synonym"
                },
                {
                    "name": "NEDSCAC",
                    "type": "synonym"
                },
                {
                    "name": "TRAP37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P2C8-1",
            "evidence": [
                {
                    "id": "0110667",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110667"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110667"
}