{
    "disease_id": "DOID:0060832",
    "recommended_name": {
        "id": "DOID:0060832",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060832",
        "name": "Griscelli syndrome type 1",
        "description": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060832",
            "name": "GS1",
            "description": ""
        },
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060832",
            "name": "Griscelli syndrome with neurological impairment",
            "description": ""
        },
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060832",
            "name": "Griscelli-Prunieras syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060832",
            "name": "Griscelli syndrome, cutaneous and neurological type",
            "description": ""
        },
        {
            "id": "DOID:0060832",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060832",
            "name": "hypopigmentation-neurologic impairment syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome type 1",
            "description": "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2."
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "GS1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli-PruniC)ras syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli-Pruniras syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "hypopigmentation-neurologic impairment syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "Griscelli syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "name": "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts",
            "description": ""
        },
        {
            "id": "MIM:214450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214450",
            "name": "Griscelli syndrome 1",
            "description": "Griscelli syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060832"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060832",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060832",
            "categories": []
        },
        {
            "id": "MONDO:0008962",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008962",
            "categories": []
        },
        {
            "id": "MIM:214450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/214450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TCA0-1",
            "uniprot_ac": "A0AB32TCA0",
            "uniprot_id": "A0AB32TCA0_DANRE",
            "refseq_ac": "XP_068071029",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-Va",
                    "type": "recommended"
                },
                {
                    "name": "Dilute myosin heavy chain, non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-Va isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myo5aa",
                    "type": "recommended"
                },
                {
                    "name": "myo5aa",
                    "type": "synonym"
                }
            ],
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                    "id": "0060832",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3API9-1",
            "uniprot_ac": "A0A8M3API9",
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            "refseq_ac": "XP_009296049",
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Unconventional myosin-Va isoform X2",
                    "type": "synonym"
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                {
                    "name": "unconventional myosin-Va isoform X2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "myo5ab",
                    "type": "recommended"
                },
                {
                    "name": "myo5ab",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060832",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060832"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99104-1",
            "uniprot_ac": "Q99104",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-Va",
                    "type": "recommended"
                },
                {
                    "name": "Dilute myosin heavy chain, non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "dilute lethal-20J protein",
                    "type": "synonym"
                },
                {
                    "name": "dilute myosin heavy chain, non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "flailer",
                    "type": "synonym"
                },
                {
                    "name": "myosin-Va",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-Va",
                    "type": "synonym"
                }
            ],
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                    "name": "Myo5a",
                    "type": "recommended"
                },
                {
                    "name": "9630007J19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dbv",
                    "type": "synonym"
                },
                {
                    "name": "Dilute",
                    "type": "synonym"
                },
                {
                    "name": "MVa",
                    "type": "synonym"
                },
                {
                    "name": "Myo5a",
                    "type": "synonym"
                },
                {
                    "name": "Myo5",
                    "type": "synonym"
                },
                {
                    "name": "MyoVA",
                    "type": "synonym"
                },
                {
                    "name": "Sev-1",
                    "type": "synonym"
                },
                {
                    "name": "d-120J",
                    "type": "synonym"
                },
                {
                    "name": "d",
                    "type": "synonym"
                },
                {
                    "name": "flail",
                    "type": "synonym"
                },
                {
                    "name": "flr",
                    "type": "synonym"
                }
            ],
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                    "id": "0060832",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060832"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4I1-1",
            "uniprot_ac": "Q9Y4I1",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-Va",
                    "type": "recommended"
                },
                {
                    "name": "Dilute myosin heavy chain, non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 12",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-12",
                    "type": "synonym"
                },
                {
                    "name": "Myoxin",
                    "type": "synonym"
                },
                {
                    "name": "dilute myosin heavy chain, non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin VA (heavy chain 12, myoxin)",
                    "type": "synonym"
                },
                {
                    "name": "myosin V",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide kinase",
                    "type": "synonym"
                },
                {
                    "name": "myosin-12",
                    "type": "synonym"
                },
                {
                    "name": "myosin-Va",
                    "type": "synonym"
                },
                {
                    "name": "myoxin",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-Va isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-Va",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO5A",
                    "type": "recommended"
                },
                {
                    "name": "GS1",
                    "type": "synonym"
                },
                {
                    "name": "MYH12",
                    "type": "synonym"
                },
                {
                    "name": "MYO5A",
                    "type": "synonym"
                },
                {
                    "name": "MYO5",
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                },
                {
                    "name": "MYR12",
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                }
            ],
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                },
                {
                    "id": "0060832",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060832"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32492-1",
            "uniprot_ac": "P32492",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Myosin-4",
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                    "name": "SWI5-dependent HO expression protein 1",
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                }
            ],
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                    "name": "MYO4",
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                    "name": "FUN22",
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                },
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060832"
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            ]
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            "uniprot_canonical_ac": "P19524-1",
            "uniprot_ac": "P19524",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Myosin-2",
                    "type": "recommended"
                },
                {
                    "name": "Cell division control protein 66",
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                },
                {
                    "name": "Class V unconventional myosin MYO2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin V MYO2",
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                    "name": "Type V myosin heavy chain MYO2",
                    "type": "synonym"
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                    "name": "myosin 2",
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                }
            ],
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                    "name": "MYO2",
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                    "name": "CDC66",
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                },
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                    "name": "MYO2",
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                    "name": "O6167",
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                    "id": "0060832",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060832"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9QYF3-1",
            "uniprot_ac": "Q9QYF3",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Unconventional myosin-Va",
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                },
                {
                    "name": "Dilute myosin heavy chain, non-muscle",
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                {
                    "name": "dilute myosin heavy chain, non-muscle",
                    "type": "synonym"
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                    "name": "dilute-opisthotonus",
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                {
                    "name": "myosin 5a",
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                    "name": "myosin-Va",
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                    "name": "unconventional myosin-Va isoform 2",
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                    "name": "unconventional myosin-Va",
                    "type": "synonym"
                }
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                    "name": "Myo5a",
                    "type": "recommended"
                },
                {
                    "name": "Dop",
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                },
                {
                    "name": "Myh12",
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                    "name": "Myo5a",
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                }
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                    "id": "0060832",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060832"
                }
            ]
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            "uniprot_canonical_ac": "A1Z6Z8-1",
            "uniprot_ac": "A1Z6Z8",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                }
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                    "name": "5.6.1.8",
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                    "name": "CG2146-PC",
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                    "name": "Dilute class unconventional myosin, isoform C",
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                    "name": "Myosin5",
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                {
                    "name": "MyosinV",
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                {
                    "name": "didum-PC",
                    "type": "synonym"
                },
                {
                    "name": "dilute class unconventional myosin, isoform C",
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                {
                    "name": "myosin V",
                    "type": "synonym"
                },
                {
                    "name": "myosin-5",
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                {
                    "name": "myosin-V",
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                    "name": "shorty",
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                    "name": "didum",
                    "type": "recommended"
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                    "name": "43CD",
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                {
                    "name": "CG2146",
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                    "name": "Didum",
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                {
                    "name": "DmV",
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                {
                    "name": "Dmel\\CG2146",
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                {
                    "name": "Dmel_CG2146",
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                    "name": "M5",
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                    "name": "MYOV",
                    "type": "synonym"
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                    "name": "Myo1C",
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                },
                {
                    "name": "Myo5",
                    "type": "synonym"
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                {
                    "name": "MyoV43CD",
                    "type": "synonym"
                },
                {
                    "name": "MyoV",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs14c05",
                    "type": "synonym"
                },
                {
                    "name": "NMC7",
                    "type": "synonym"
                },
                {
                    "name": "didum",
                    "type": "synonym"
                },
                {
                    "name": "dmM5",
                    "type": "synonym"
                },
                {
                    "name": "myoV",
                    "type": "synonym"
                },
                {
                    "name": "soy",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060832",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060832"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060832"
}