{
    "disease_id": "DOID:0070639",
    "recommended_name": {
        "id": "DOID:0070639",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070639",
        "name": "mirror movements 3",
        "description": "A congenital mirror movement disorder that has_material_basis_in homozygous mutation in the DNAL4 gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014478",
            "name": "mirror movements 3",
            "description": "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene."
        },
        {
            "id": "MONDO:0014478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014478",
            "name": "DNAL4 familial congenital mirror movements",
            "description": ""
        },
        {
            "id": "MONDO:0014478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014478",
            "name": "familial congenital mirror movements caused by mutation in DNAL4",
            "description": ""
        },
        {
            "id": "MONDO:0014478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014478",
            "name": "mirror movements 3",
            "description": ""
        },
        {
            "id": "MONDO:0014478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014478",
            "name": "mirror movements type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014478",
            "name": "MRMV3",
            "description": ""
        },
        {
            "id": "MIM:616059",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616059",
            "name": "Mirror movements 3",
            "description": "Mirror movements 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070639"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070639",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070639",
            "categories": []
        },
        {
            "id": "MONDO:0014478",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014478",
            "categories": []
        },
        {
            "id": "MIM:616059",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616059",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DCM4-1",
            "uniprot_ac": "Q9DCM4",
            "uniprot_id": "DNAL4_MOUSE",
            "refseq_ac": "NP_059498",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal light chain 4",
                    "type": "recommended"
                },
                {
                    "name": "dynein axonemal light chain 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein light chain 4, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axon, light chain 4",
                    "type": "synonym"
                },
                {
                    "name": "outer arm dynein light chain 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnal4",
                    "type": "recommended"
                },
                {
                    "name": "D15Ertd424e",
                    "type": "synonym"
                },
                {
                    "name": "Dnal4",
                    "type": "synonym"
                },
                {
                    "name": "Dnalc4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCM4-1",
            "evidence": [
                {
                    "id": "0070639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96015-1",
            "uniprot_ac": "O96015",
            "uniprot_id": "DNAL4_HUMAN",
            "refseq_ac": "NP_005731",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal light chain 4",
                    "type": "recommended"
                },
                {
                    "name": "dynein axonemal light chain 4",
                    "type": "synonym"
                },
                {
                    "name": "dynein light chain, outer arm 4",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, light polypeptide 4",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-inducing gene 27",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-inducing protein 27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAL4",
                    "type": "recommended"
                },
                {
                    "name": "DNAL4",
                    "type": "synonym"
                },
                {
                    "name": "MRMV3",
                    "type": "synonym"
                },
                {
                    "name": "PIG27",
                    "type": "synonym"
                }
            ],
            "record_id": "O96015-1",
            "evidence": [
                {
                    "id": "616059",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616059"
                },
                {
                    "id": "0070639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A5P7-1",
            "uniprot_ac": "A0A8I6A5P7",
            "uniprot_id": "A0A8I6A5P7_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": "Dynein light chain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnal4",
                    "type": "recommended"
                },
                {
                    "name": "Dnal4-ps1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A5P7-1",
            "evidence": [
                {
                    "id": "0070639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25122-1",
            "uniprot_ac": "P25122",
            "uniprot_id": "KCNC1_RAT",
            "refseq_ac": "NP_036988",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel KCNC1",
                    "type": "recommended"
                },
                {
                    "name": "NGK2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel gene 1 (alternative splicing product described in Luneau et al 1991)",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 1",
                    "type": "synonym"
                },
                {
                    "name": "RAW2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated Shaw-related subfamily C, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage gated channel, Shaw-related subfamily, member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnc1",
                    "type": "recommended"
                },
                {
                    "name": "KShIIIB",
                    "type": "synonym"
                },
                {
                    "name": "Kcnc1",
                    "type": "synonym"
                },
                {
                    "name": "Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "Kv4",
                    "type": "synonym"
                },
                {
                    "name": "NGK2-KV4",
                    "type": "synonym"
                }
            ],
            "record_id": "P25122-1",
            "evidence": [
                {
                    "id": "0070639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z8T9-1",
            "uniprot_ac": "A1Z8T9",
            "uniprot_id": "A1Z8T9_DROME",
            "refseq_ac": "NP_001163124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein light chain",
                    "type": "recommended"
                },
                {
                    "name": "CG8407-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG8407",
                    "type": "recommended"
                },
                {
                    "name": "CG8407",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8407",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8407",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z8T9-1",
            "evidence": [
                {
                    "id": "0070639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070639"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070639"
}