{
    "disease_id": "DOID:0060834",
    "recommended_name": {
        "id": "DOID:0060834",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060834",
        "name": "Griscelli syndrome type 3",
        "description": "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes."
    },
    "synonyms": [
        {
            "id": "DOID:0060834",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060834",
            "name": "GS3",
            "description": ""
        },
        {
            "id": "DOID:0060834",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060834",
            "name": "Griscelli-Prunieras syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012220",
            "name": "Griscelli syndrome type 3",
            "description": "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes."
        },
        {
            "id": "MONDO:0012220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012220",
            "name": "GS3",
            "description": ""
        },
        {
            "id": "MONDO:0012220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012220",
            "name": "Griscelli syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012220",
            "name": "Griscelli-PruniC)ras syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012220",
            "name": "Griscelli-Pruniras syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012220",
            "name": "Griscelli syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012220",
            "name": "hypomelanosis with no immunologic or neurologic manifestations",
            "description": ""
        },
        {
            "id": "MIM:609227",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609227",
            "name": "Griscelli syndrome 3",
            "description": "Griscelli syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060834"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060834",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060834",
            "categories": []
        },
        {
            "id": "MONDO:0012220",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012220",
            "categories": []
        },
        {
            "id": "MIM:609227",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609227",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QFY9-1",
            "uniprot_ac": "A0A8M9QFY9",
            "uniprot_id": "A0A8M9QFY9_DANRE",
            "refseq_ac": "XP_021334596",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanophilin isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "melanophilin isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mlphb",
                    "type": "recommended"
                },
                {
                    "name": "mlphb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QFY9-1",
            "evidence": [
                {
                    "id": "0060834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BGK5-1",
            "uniprot_ac": "A0A8M2BGK5",
            "uniprot_id": "A0A8M2BGK5_DANRE",
            "refseq_ac": "XP_073809160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanophilin a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "melanophilin a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mlpha",
                    "type": "recommended"
                },
                {
                    "name": "mlpha",
                    "type": "synonym"
                },
                {
                    "name": "mlphb",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-186m12.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154096",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BGK5-1",
            "evidence": [
                {
                    "id": "0060834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91V27-1",
            "uniprot_ac": "Q91V27",
            "uniprot_id": "MELPH_MOUSE",
            "refseq_ac": "NP_443748",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanophilin",
                    "type": "recommended"
                },
                {
                    "name": "Exophilin-3",
                    "type": "synonym"
                },
                {
                    "name": "Leaden protein",
                    "type": "synonym"
                },
                {
                    "name": "SlaC2-a",
                    "type": "synonym"
                },
                {
                    "name": "Slp homolog lacking C2 domains a",
                    "type": "synonym"
                },
                {
                    "name": "Synaptotagmin-like protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "exophilin-3",
                    "type": "synonym"
                },
                {
                    "name": "leaden protein",
                    "type": "synonym"
                },
                {
                    "name": "melanophilin",
                    "type": "synonym"
                },
                {
                    "name": "slaC2-a",
                    "type": "synonym"
                },
                {
                    "name": "slp homolog lacking C2 domains a",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-like protein 2a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlph",
                    "type": "recommended"
                },
                {
                    "name": "2210418F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "5031433I09Rik",
                    "type": "synonym"
                },
                {
                    "name": "D1Wsu84e",
                    "type": "synonym"
                },
                {
                    "name": "Ln",
                    "type": "synonym"
                },
                {
                    "name": "Mlph",
                    "type": "synonym"
                },
                {
                    "name": "Slac-2a",
                    "type": "synonym"
                },
                {
                    "name": "Slac2a",
                    "type": "synonym"
                },
                {
                    "name": "l(1)-3Rk",
                    "type": "synonym"
                },
                {
                    "name": "l1Rk3",
                    "type": "synonym"
                },
                {
                    "name": "ln",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91V27-1",
            "evidence": [
                {
                    "id": "0060834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BV36-1",
            "uniprot_ac": "Q9BV36",
            "uniprot_id": "MELPH_HUMAN",
            "refseq_ac": "NP_001035932",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanophilin",
                    "type": "recommended"
                },
                {
                    "name": "Exophilin-3",
                    "type": "synonym"
                },
                {
                    "name": "SlaC2-a",
                    "type": "synonym"
                },
                {
                    "name": "Slp homolog lacking C2 domains a",
                    "type": "synonym"
                },
                {
                    "name": "Synaptotagmin-like protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "exophilin-3",
                    "type": "synonym"
                },
                {
                    "name": "melanophilin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "slp homolog lacking C2 domains a",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-like protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-like protein homologue lacking C2 domains-a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLPH",
                    "type": "recommended"
                },
                {
                    "name": "MLPH",
                    "type": "synonym"
                },
                {
                    "name": "SLAC2-A",
                    "type": "synonym"
                },
                {
                    "name": "SLAC2A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BV36-1",
            "evidence": [
                {
                    "id": "609227",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609227"
                },
                {
                    "id": "0060834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8M0-1",
            "uniprot_ac": "G3V8M0",
            "uniprot_id": "G3V8M0_RAT",
            "refseq_ac": "NP_001419069",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanophilin",
                    "type": "synonym"
                },
                {
                    "name": "melanophilin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlph",
                    "type": "recommended"
                },
                {
                    "name": "Mlph",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V8M0-1",
            "evidence": [
                {
                    "id": "0060834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060834"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060834"
}