{
    "disease_id": "DOID:0080978",
    "recommended_name": {
        "id": "DOID:0080978",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080978",
        "name": "arthrogryposis multiplex congenita-1",
        "description": "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0060486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060486",
            "name": "arthrogryposis multiplex congenita 1, neurogenic, with myelin defect",
            "description": ""
        },
        {
            "id": "MONDO:0060486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060486",
            "name": "arthrogryposis multiplex congenita, neurogenic, with myelin defect",
            "description": ""
        },
        {
            "id": "MONDO:0060486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060486",
            "name": "AMCNMY",
            "description": ""
        },
        {
            "id": "MIM:617468",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617468",
            "name": "Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect",
            "description": "Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080978"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080978",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080978",
            "categories": []
        },
        {
            "id": "MONDO:0060486",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060486",
            "categories": []
        },
        {
            "id": "MIM:617468",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617468",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K1S1-1",
            "uniprot_ac": "Q8K1S1",
            "uniprot_id": "LGI4_MOUSE",
            "refseq_ac": "NP_653139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat LGI family member 4",
                    "type": "recommended"
                },
                {
                    "name": "LGI1-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich glioma-inactivated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma inactivated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat LGI family member 4 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgi4",
                    "type": "recommended"
                },
                {
                    "name": "Lgi4",
                    "type": "synonym"
                },
                {
                    "name": "Lgil3",
                    "type": "synonym"
                },
                {
                    "name": "clp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1S1-1",
            "evidence": [
                {
                    "id": "0080978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080978"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N135-1",
            "uniprot_ac": "Q8N135",
            "uniprot_id": "LGI4_HUMAN",
            "refseq_ac": "NP_644813",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat LGI family member 4",
                    "type": "recommended"
                },
                {
                    "name": "LGI1-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich glioma-inactivated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma-inactivated gene 4",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma-inactivated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat LGI family member 4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LGI4",
                    "type": "recommended"
                },
                {
                    "name": "AMC1",
                    "type": "synonym"
                },
                {
                    "name": "AMCNMY",
                    "type": "synonym"
                },
                {
                    "name": "LGI4",
                    "type": "synonym"
                },
                {
                    "name": "LGIL3",
                    "type": "synonym"
                },
                {
                    "name": "PRO21485",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N135-1",
            "evidence": [
                {
                    "id": "617468",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617468"
                },
                {
                    "id": "0080978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080978"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0KWR0-1",
            "uniprot_ac": "A0ABK0KWR0",
            "uniprot_id": "A0ABK0KWR0_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat LGI family, member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgi4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0KWR0-1",
            "evidence": [
                {
                    "id": "0080978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080978"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080978"
}