{
    "disease_id": "DOID:0110661",
    "recommended_name": {
        "id": "DOID:0110661",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110661",
        "name": "congenital myasthenic syndrome 20",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110661",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110661",
            "name": "CMS20",
            "description": ""
        },
        {
            "id": "DOID:0110661",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110661",
            "name": "congenital myasthenic syndrome 20 presynaptic",
            "description": ""
        },
        {
            "id": "MONDO:0014939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014939",
            "name": "congenital myasthenic syndrome 20",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene."
        },
        {
            "id": "MONDO:0014939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014939",
            "name": "CMS20",
            "description": ""
        },
        {
            "id": "MONDO:0014939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014939",
            "name": "SLC5A7 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014939",
            "name": "congenital myasthenic syndrome caused by mutation in SLC5A7",
            "description": ""
        },
        {
            "id": "MONDO:0014939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014939",
            "name": "congenital myasthenic syndrome type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014939",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014939",
            "name": "myasthenic syndrome, congenital, 20, presynaptic",
            "description": ""
        },
        {
            "id": "MIM:617143",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617143",
            "name": "Myasthenic syndrome, congenital, 20, presynaptic",
            "description": "Myasthenic syndrome, congenital, 20, presynaptic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110661"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110661",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110661",
            "categories": []
        },
        {
            "id": "MONDO:0014939",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014939",
            "categories": []
        },
        {
            "id": "MIM:617143",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617143",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6Q2-1",
            "uniprot_ac": "A0ACD6B6Q2",
            "uniprot_id": "A0ACD6B6Q2_DANRE",
            "refseq_ac": "XP_021332411",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 7",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc5a7a",
                    "type": "recommended"
                },
                {
                    "name": "slc5a7a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6Q2-1",
            "evidence": [
                {
                    "id": "0110661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGY9-1",
            "uniprot_ac": "Q8BGY9",
            "uniprot_id": "SC5A7_MOUSE",
            "refseq_ac": "NP_071308",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CHT",
                    "type": "synonym"
                },
                {
                    "name": "Hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 7",
                    "type": "synonym"
                },
                {
                    "name": "hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a7",
                    "type": "recommended"
                },
                {
                    "name": "CHT1",
                    "type": "synonym"
                },
                {
                    "name": "Cht1",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGY9-1",
            "evidence": [
                {
                    "id": "0110661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZV3-1",
            "uniprot_ac": "Q9GZV3",
            "uniprot_id": "SC5A7_HUMAN",
            "refseq_ac": "NP_001291934",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CHT",
                    "type": "synonym"
                },
                {
                    "name": "Hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "Motor neuronopathy, distal hereditary, type VIIA",
                    "type": "synonym"
                },
                {
                    "name": "Motor neuronopathy, distal hereditary, with vocal cord paresis",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 7",
                    "type": "synonym"
                },
                {
                    "name": "hCHT1",
                    "type": "synonym"
                },
                {
                    "name": "hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/choline cotransporter), member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC5A7",
                    "type": "recommended"
                },
                {
                    "name": "CHT1",
                    "type": "synonym"
                },
                {
                    "name": "CHT",
                    "type": "synonym"
                },
                {
                    "name": "CMS20",
                    "type": "synonym"
                },
                {
                    "name": "DHMNVP",
                    "type": "synonym"
                },
                {
                    "name": "HMN7A",
                    "type": "synonym"
                },
                {
                    "name": "HMND7",
                    "type": "synonym"
                },
                {
                    "name": "SLC5A7",
                    "type": "synonym"
                },
                {
                    "name": "hCHT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZV3-1",
            "evidence": [
                {
                    "id": "617143",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617143"
                },
                {
                    "id": "0110661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JMD7-1",
            "uniprot_ac": "Q9JMD7",
            "uniprot_id": "SC5A7_RAT",
            "refseq_ac": "NP_445973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CHT",
                    "type": "synonym"
                },
                {
                    "name": "Hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 7",
                    "type": "synonym"
                },
                {
                    "name": "hemicholinium-3-sensitive choline transporter",
                    "type": "synonym"
                },
                {
                    "name": "high affinity choline transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "rCHT1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (choline transporter), member 7",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/choline cotransporter), member 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a7",
                    "type": "recommended"
                },
                {
                    "name": "Cht1",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a7",
                    "type": "synonym"
                },
                {
                    "name": "rCHT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JMD7-1",
            "evidence": [
                {
                    "id": "0110661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110661"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE46-1",
            "uniprot_ac": "Q9VE46",
            "uniprot_id": "SC5A7_DROME",
            "refseq_ac": "NP_650743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "High-affinity choline transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG7708-PA",
                    "type": "synonym"
                },
                {
                    "name": "ChT-PA",
                    "type": "synonym"
                },
                {
                    "name": "choline transporter, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ChT",
                    "type": "recommended"
                },
                {
                    "name": "CG7708",
                    "type": "synonym"
                },
                {
                    "name": "ChT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7708",
                    "type": "synonym"
                },
                {
                    "name": "dSLC5A15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE46-1",
            "evidence": [
                {
                    "id": "0110661",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110661"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110661"
}