{
    "disease_id": "DOID:0060486",
    "recommended_name": {
        "id": "DOID:0060486",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060486",
        "name": "Perry syndrome",
        "description": "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060486",
            "name": "parkinsonism with alveolar hypoventilation and mental depression",
            "description": ""
        },
        {
            "id": "MONDO:0008201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008201",
            "name": "Perry syndrome",
            "description": "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression."
        },
        {
            "id": "MONDO:0008201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008201",
            "name": "Parkinsonism with alveolar hypoventilation and mental depression",
            "description": ""
        },
        {
            "id": "MONDO:0008201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008201",
            "name": "Perry syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008201",
            "name": "parkinsonism with alveolar hypoventilation and mental depression",
            "description": ""
        },
        {
            "id": "MIM:168605",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/168605",
            "name": "Perry syndrome",
            "description": "Perry syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060486"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060486",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060486",
            "categories": []
        },
        {
            "id": "MONDO:0008201",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008201",
            "categories": []
        },
        {
            "id": "MIM:168605",
            "database": "MIM",
            "url": "https://www.omim.org/entry/168605",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58FY45-1",
            "uniprot_ac": "A0AC58FY45",
            "uniprot_id": "A0AC58FY45_DANRE",
            "refseq_ac": "XP_073762475",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynactin subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "dynactin subunit 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dctn1a",
                    "type": "recommended"
                },
                {
                    "name": "dctn1a",
                    "type": "synonym"
                },
                {
                    "name": "p150a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58FY45-1",
            "evidence": [
                {
                    "id": "0060486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QFT7-1",
            "uniprot_ac": "A0A8M9QFT7",
            "uniprot_id": "A0A8M9QFT7_DANRE",
            "refseq_ac": "XP_021336434",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynactin subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "dynactin subunit 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dctn1b",
                    "type": "recommended"
                },
                {
                    "name": "dctn1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QFT7-1",
            "evidence": [
                {
                    "id": "0060486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08788-1",
            "uniprot_ac": "O08788",
            "uniprot_id": "DCTN1_MOUSE",
            "refseq_ac": "NP_031861",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynactin subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "150 kDa dynein-associated polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DAP-150",
                    "type": "synonym"
                },
                {
                    "name": "DP-150",
                    "type": "synonym"
                },
                {
                    "name": "dynactin 1, retrograde axonal transport",
                    "type": "synonym"
                },
                {
                    "name": "dynactin subunit 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynactin subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "p150-glued",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dctn1",
                    "type": "recommended"
                },
                {
                    "name": "DAP-150",
                    "type": "synonym"
                },
                {
                    "name": "DP-150",
                    "type": "synonym"
                },
                {
                    "name": "Dctn1",
                    "type": "synonym"
                },
                {
                    "name": "Glued",
                    "type": "synonym"
                },
                {
                    "name": "p150-glued",
                    "type": "synonym"
                },
                {
                    "name": "p150<glued>",
                    "type": "synonym"
                },
                {
                    "name": "p150",
                    "type": "synonym"
                }
            ],
            "record_id": "O08788-1",
            "evidence": [
                {
                    "id": "0060486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14203-1",
            "uniprot_ac": "Q14203",
            "uniprot_id": "DCTN1_HUMAN",
            "refseq_ac": "NP_001128512",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynactin subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "150 kDa dynein-associated polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DAP-150",
                    "type": "synonym"
                },
                {
                    "name": "DP-150",
                    "type": "synonym"
                },
                {
                    "name": "dynactin 1 (p150, glued homolog, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "dynactin subunit 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "p135",
                    "type": "synonym"
                },
                {
                    "name": "p150-glued",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCTN1",
                    "type": "recommended"
                },
                {
                    "name": "DAP-150",
                    "type": "synonym"
                },
                {
                    "name": "DCTN1",
                    "type": "synonym"
                },
                {
                    "name": "DP-150",
                    "type": "synonym"
                },
                {
                    "name": "HMND14",
                    "type": "synonym"
                },
                {
                    "name": "P135",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14203-1",
            "evidence": [
                {
                    "id": "168605",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/168605"
                },
                {
                    "id": "0060486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28023-1",
            "uniprot_ac": "P28023",
            "uniprot_id": "DCTN1_RAT",
            "refseq_ac": "NP_077044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynactin subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "150 kDa dynein-associated polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DAP-150",
                    "type": "synonym"
                },
                {
                    "name": "DP-150",
                    "type": "synonym"
                },
                {
                    "name": "dynactin 1",
                    "type": "synonym"
                },
                {
                    "name": "dynactin subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "p150-glued",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C4h2orf81",
                    "type": "recommended"
                },
                {
                    "name": "Dctn1",
                    "type": "recommended"
                },
                {
                    "name": "C4h2orf81",
                    "type": "synonym"
                },
                {
                    "name": "Dctn1",
                    "type": "synonym"
                },
                {
                    "name": "LOC500227",
                    "type": "synonym"
                }
            ],
            "record_id": "P28023-1",
            "evidence": [
                {
                    "id": "0060486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19357-1",
            "uniprot_ac": "P19357",
            "uniprot_id": "GLUT4_RAT",
            "refseq_ac": "NP_036883",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 4",
                    "type": "recommended"
                },
                {
                    "name": "GLUT-4",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter 4, insuline-responsive",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter type 4, insulin-responsive",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter 4 insulin-responsive",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter type 4, insulin-responsive",
                    "type": "synonym"
                },
                {
                    "name": "insulin responsive glucose transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2 (facilitated glucose transporter), member 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc2a4",
                    "type": "recommended"
                },
                {
                    "name": "Glut4",
                    "type": "synonym"
                },
                {
                    "name": "Slc2a4",
                    "type": "synonym"
                }
            ],
            "record_id": "P19357-1",
            "evidence": [
                {
                    "id": "0060486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13496-1",
            "uniprot_ac": "P13496",
            "uniprot_id": "DCTN1_DROME",
            "refseq_ac": "NP_524061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynactin subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "150 kDa dynein-associated polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "CG9206-PA",
                    "type": "synonym"
                },
                {
                    "name": "DAP-150",
                    "type": "synonym"
                },
                {
                    "name": "DCTN1-p150-PA",
                    "type": "synonym"
                },
                {
                    "name": "DP-150",
                    "type": "synonym"
                },
                {
                    "name": "Dynactin 1 subunit p150",
                    "type": "synonym"
                },
                {
                    "name": "Dynactin1 p150 A",
                    "type": "synonym"
                },
                {
                    "name": "Protein glued",
                    "type": "synonym"
                },
                {
                    "name": "dynactin 1, p150 subunit",
                    "type": "synonym"
                },
                {
                    "name": "dynactin P150",
                    "type": "synonym"
                },
                {
                    "name": "dynactin",
                    "type": "synonym"
                },
                {
                    "name": "p150-Glued",
                    "type": "synonym"
                },
                {
                    "name": "p150[glued]",
                    "type": "synonym"
                },
                {
                    "name": "p150glued",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCTN1-p150",
                    "type": "recommended"
                },
                {
                    "name": "CG9206",
                    "type": "synonym"
                },
                {
                    "name": "DCTN-P",
                    "type": "synonym"
                },
                {
                    "name": "DCTN1-p150",
                    "type": "synonym"
                },
                {
                    "name": "DCTN1",
                    "type": "synonym"
                },
                {
                    "name": "DCTN",
                    "type": "synonym"
                },
                {
                    "name": "DYNA_DROME",
                    "type": "synonym"
                },
                {
                    "name": "Dctn 1-p150",
                    "type": "synonym"
                },
                {
                    "name": "Dctn1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9206",
                    "type": "synonym"
                },
                {
                    "name": "FCP-D",
                    "type": "synonym"
                },
                {
                    "name": "Glued",
                    "type": "synonym"
                },
                {
                    "name": "Glu",
                    "type": "synonym"
                },
                {
                    "name": "Gl",
                    "type": "synonym"
                },
                {
                    "name": "P150A",
                    "type": "synonym"
                },
                {
                    "name": "P150[Glued]",
                    "type": "synonym"
                },
                {
                    "name": "P150",
                    "type": "synonym"
                },
                {
                    "name": "glued/p150",
                    "type": "synonym"
                },
                {
                    "name": "gl",
                    "type": "synonym"
                },
                {
                    "name": "p150/Glued",
                    "type": "synonym"
                },
                {
                    "name": "p150/glued",
                    "type": "synonym"
                },
                {
                    "name": "p150[Glued]",
                    "type": "synonym"
                },
                {
                    "name": "p150[glued]",
                    "type": "synonym"
                },
                {
                    "name": "p150",
                    "type": "synonym"
                },
                {
                    "name": "t1",
                    "type": "synonym"
                }
            ],
            "record_id": "P13496-1",
            "evidence": [
                {
                    "id": "0060486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060486"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060486"
}