{
    "disease_id": "DOID:0060944",
    "recommended_name": {
        "id": "DOID:0060944",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060944",
        "name": "episodic kinesigenic dyskinesia 3",
        "description": "A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0859380",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859380",
            "name": "episodic kinesigenic dyskinesia 3",
            "description": ""
        },
        {
            "id": "MIM:620245",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620245",
            "name": "Episodic kinesigenic dyskinesia 3",
            "description": "Episodic kinesigenic dyskinesia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060944"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060944",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060944",
            "categories": []
        },
        {
            "id": "MONDO:0859380",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859380",
            "categories": []
        },
        {
            "id": "MIM:620245",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620245",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6GQT5-1",
            "uniprot_ac": "Q6GQT5",
            "uniprot_id": "T151A_MOUSE",
            "refseq_ac": "NP_001001885",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 151A",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 151A",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 151",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem151a",
                    "type": "recommended"
                },
                {
                    "name": "Gm30627",
                    "type": "synonym"
                },
                {
                    "name": "Gm961",
                    "type": "synonym"
                },
                {
                    "name": "Tmem151a",
                    "type": "synonym"
                },
                {
                    "name": "Tmem151",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6GQT5-1",
            "evidence": [
                {
                    "id": "0060944",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060944"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N4L1-1",
            "uniprot_ac": "Q8N4L1",
            "uniprot_id": "T151A_HUMAN",
            "refseq_ac": "NP_694998",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 151A",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 151A",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 151",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM151A",
                    "type": "recommended"
                },
                {
                    "name": "DYT36",
                    "type": "synonym"
                },
                {
                    "name": "EKD3",
                    "type": "synonym"
                },
                {
                    "name": "TMEM151A",
                    "type": "synonym"
                },
                {
                    "name": "TMEM151",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N4L1-1",
            "evidence": [
                {
                    "id": "620245",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620245"
                },
                {
                    "id": "0060944",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060944"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RAG0-1",
            "uniprot_ac": "M0RAG0",
            "uniprot_id": "M0RAG0_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": "Transmembrane protein 151A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem151a",
                    "type": "recommended"
                }
            ],
            "record_id": "M0RAG0-1",
            "evidence": [
                {
                    "id": "0060944",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060944"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060944"
}