{
    "disease_id": "DOID:0110657",
    "recommended_name": {
        "id": "DOID:0110657",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110657",
        "name": "congenital myasthenic syndrome 8",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p."
    },
    "synonyms": [
        {
            "id": "DOID:0110657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110657",
            "name": "congenital myasthenic syndrome 8 with pre- and postsynaptic defects",
            "description": ""
        },
        {
            "id": "DOID:0110657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110657",
            "name": "CMS8",
            "description": ""
        },
        {
            "id": "DOID:0110657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110657",
            "name": "congenital myasthenic syndrome due to agrin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "congenital myasthenic syndrome 8",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene."
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "AGRN congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "CMS8",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "congenital myasthenic syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "congenital myasthenic syndrome caused by mutation in AGRN",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "congenital myasthenic syndrome type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "myasthenic syndrome, congenital, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "name": "myasthenic syndrome, congenital, 8",
            "description": ""
        },
        {
            "id": "MIM:615120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615120",
            "name": "Myasthenic syndrome, congenital, 8",
            "description": "Myasthenic syndrome, congenital, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110657"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110657",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110657",
            "categories": []
        },
        {
            "id": "MONDO:0014052",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014052",
            "categories": []
        },
        {
            "id": "MIM:615120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PKT2-1",
            "uniprot_ac": "A0A8M9PKT2",
            "uniprot_id": "A0A8M9PKT2_DANRE",
            "refseq_ac": "XP_021325504",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Agrin",
                    "type": "recommended"
                },
                {
                    "name": "agrin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "agrn",
                    "type": "recommended"
                },
                {
                    "name": "agrn",
                    "type": "synonym"
                },
                {
                    "name": "hm:gc12",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu553",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb57e07",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PKT2-1",
            "evidence": [
                {
                    "id": "0110657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110657"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2ASQ1-1",
            "uniprot_ac": "A2ASQ1",
            "uniprot_id": "AGRIN_MOUSE",
            "refseq_ac": "NP_001355955",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Agrin",
                    "type": "recommended"
                },
                {
                    "name": "agrin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agrn",
                    "type": "recommended"
                },
                {
                    "name": "Agrin",
                    "type": "synonym"
                },
                {
                    "name": "Agrn",
                    "type": "synonym"
                },
                {
                    "name": "nmf380",
                    "type": "synonym"
                }
            ],
            "record_id": "A2ASQ1-1",
            "evidence": [
                {
                    "id": "0110657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110657"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00468-1",
            "uniprot_ac": "O00468",
            "uniprot_id": "AGRIN_HUMAN",
            "refseq_ac": "NP_940978",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Agrin",
                    "type": "recommended"
                },
                {
                    "name": "agrin isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "agrin proteoglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGRN",
                    "type": "recommended"
                },
                {
                    "name": "AGRIN",
                    "type": "synonym"
                },
                {
                    "name": "AGRN",
                    "type": "synonym"
                },
                {
                    "name": "CMS8",
                    "type": "synonym"
                },
                {
                    "name": "CMSPPD",
                    "type": "synonym"
                }
            ],
            "record_id": "O00468-1",
            "evidence": [
                {
                    "id": "615120",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615120"
                },
                {
                    "id": "0110657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110657"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25304-1",
            "uniprot_ac": "P25304",
            "uniprot_id": "AGRIN_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": "Agrin",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Agrn",
                    "type": "recommended"
                },
                {
                    "name": "Agrin",
                    "type": "synonym"
                }
            ],
            "record_id": "P25304-1",
            "evidence": [
                {
                    "id": "0110657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110657"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00151-1",
            "uniprot_ac": "O00151",
            "uniprot_id": "PDLI1_HUMAN",
            "refseq_ac": "NP_066272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ and LIM domain protein 1",
                    "type": "recommended"
                },
                {
                    "name": "C-terminal LIM domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Elfin",
                    "type": "synonym"
                },
                {
                    "name": "LIM domain protein CLP-36",
                    "type": "synonym"
                },
                {
                    "name": "PDZ and LIM domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "carboxyl terminal LIM domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "elfin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 112",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDLIM1",
                    "type": "recommended"
                },
                {
                    "name": "CLIM1",
                    "type": "synonym"
                },
                {
                    "name": "CLP-36",
                    "type": "synonym"
                },
                {
                    "name": "CLP36",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-112",
                    "type": "synonym"
                },
                {
                    "name": "PDLIM1",
                    "type": "synonym"
                },
                {
                    "name": "hCLIM1",
                    "type": "synonym"
                }
            ],
            "record_id": "O00151-1",
            "evidence": [
                {
                    "id": "0110657",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110657"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110657"
}