{
    "disease_id": "DOID:0110675",
    "recommended_name": {
        "id": "DOID:0110675",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110675",
        "name": "congenital myasthenic syndrome 11",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "CMS Ie",
            "description": ""
        },
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "CMS11",
            "description": ""
        },
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "CMS1E",
            "description": ""
        },
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "congenital myasthenic syndrome 1e",
            "description": ""
        },
        {
            "id": "DOID:0110675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "name": "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "congenital myasthenic syndrome 11",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene."
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "CMS11",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "RAPSN congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "congenital myasthenic syndrome caused by mutation in RAPSN",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "congenital myasthenic syndrome type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "Cms Ie",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "name": "myasthenic syndrome, congenital, Ie",
            "description": ""
        },
        {
            "id": "MIM:616326",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616326",
            "name": "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency",
            "description": "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110675"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110675",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110675",
            "categories": []
        },
        {
            "id": "MONDO:0014588",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014588",
            "categories": []
        },
        {
            "id": "MIM:616326",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616326",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P12672-1",
            "uniprot_ac": "P12672",
            "uniprot_id": "RAPSN_MOUSE",
            "refseq_ac": "NP_033049",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "43 kDa receptor-associated protein of the synapse",
                    "type": "recommended"
                },
                {
                    "name": "43 kDa postsynaptic protein",
                    "type": "synonym"
                },
                {
                    "name": "43 kDa receptor-associated protein of the synapse isoform a",
                    "type": "synonym"
                },
                {
                    "name": "43 kDa receptor-associated protein of the synapse",
                    "type": "synonym"
                },
                {
                    "name": "43kDa acetylcholine receptor-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Acetylcholine receptor-associated 43 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "RAPsyn",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor-associated 43 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "receptor-associated protein of the synapse, 43 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rapsn",
                    "type": "recommended"
                },
                {
                    "name": "43kDa",
                    "type": "synonym"
                },
                {
                    "name": "Nraps",
                    "type": "synonym"
                },
                {
                    "name": "Rapsn",
                    "type": "synonym"
                },
                {
                    "name": "Raps",
                    "type": "synonym"
                },
                {
                    "name": "rapsyn",
                    "type": "synonym"
                }
            ],
            "record_id": "P12672-1",
            "evidence": [
                {
                    "id": "0110675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13702-1",
            "uniprot_ac": "Q13702",
            "uniprot_id": "RAPSN_HUMAN",
            "refseq_ac": "NP_005046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "43 kDa receptor-associated protein of the synapse",
                    "type": "recommended"
                },
                {
                    "name": "43 kDa postsynaptic protein",
                    "type": "synonym"
                },
                {
                    "name": "43 kDa receptor-associated protein of the synapse isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "43 kDa receptor-associated protein of the synapse",
                    "type": "synonym"
                },
                {
                    "name": "43 kda postsynaptic protein",
                    "type": "synonym"
                },
                {
                    "name": "Acetylcholine receptor-associated 43 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "RAPsyn",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 205",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor-associated 43 kda protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAPSN",
                    "type": "recommended"
                },
                {
                    "name": "CMS11",
                    "type": "synonym"
                },
                {
                    "name": "CMS4C",
                    "type": "synonym"
                },
                {
                    "name": "FADS",
                    "type": "synonym"
                },
                {
                    "name": "RAPSN",
                    "type": "synonym"
                },
                {
                    "name": "RAPSYN",
                    "type": "synonym"
                },
                {
                    "name": "RNF205",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13702-1",
            "evidence": [
                {
                    "id": "616326",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616326"
                },
                {
                    "id": "0110675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K9X2-1",
            "uniprot_ac": "A0A0G2K9X2",
            "uniprot_id": "A0A0G2K9X2_RAT",
            "refseq_ac": "NP_001386657",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "43 kDa receptor-associated protein of the synapse",
                    "type": "recommended"
                },
                {
                    "name": "43 kDa postsynaptic protein",
                    "type": "synonym"
                },
                {
                    "name": "43 kDa receptor-associated protein of the synapse isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "43 kDa receptor-associated protein of the synapse",
                    "type": "synonym"
                },
                {
                    "name": "Acetylcholine receptor-associated 43 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor-associated 46K protein",
                    "type": "synonym"
                },
                {
                    "name": "receptor-associated protein of the synapse, 43 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rapsn",
                    "type": "recommended"
                },
                {
                    "name": "Rapsn",
                    "type": "synonym"
                },
                {
                    "name": "rapsyn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K9X2-1",
            "evidence": [
                {
                    "id": "0110675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110675"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110675"
}