{
    "disease_id": "DOID:0060541",
    "recommended_name": {
        "id": "DOID:0060541",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060541",
        "name": "Hermansky-Pudlak syndrome 3",
        "description": "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013555",
            "name": "Hermansky-Pudlak syndrome 3",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene."
        },
        {
            "id": "MONDO:0013555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013555",
            "name": "HPS3 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013555",
            "name": "Hermansky-Pudlak syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013555",
            "name": "Hermansky-Pudlak syndrome caused by mutation in HPS3",
            "description": ""
        },
        {
            "id": "MONDO:0013555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013555",
            "name": "Hermansky-Pudlak syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013555",
            "name": "HPS3",
            "description": ""
        },
        {
            "id": "MIM:614072",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614072",
            "name": "Hermansky-Pudlak syndrome 3",
            "description": "Hermansky-Pudlak syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060541"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060541",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060541",
            "categories": []
        },
        {
            "id": "MONDO:0013555",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013555",
            "categories": []
        },
        {
            "id": "MIM:614072",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614072",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IZE2-1",
            "uniprot_ac": "A0A0R4IZE2",
            "uniprot_id": "A0A0R4IZE2_DANRE",
            "refseq_ac": "NP_001180471",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-2 complex member HPS3",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hps3",
                    "type": "recommended"
                },
                {
                    "name": "hps3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152969",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IZE2-1",
            "evidence": [
                {
                    "id": "0060541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91VB4-1",
            "uniprot_ac": "Q91VB4",
            "uniprot_id": "HPS3_MOUSE",
            "refseq_ac": "NP_001139795",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-2 complex member HPS3",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-2 complex member HPS3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-2 complex member HPS3",
                    "type": "synonym"
                },
                {
                    "name": "Cocoa protein",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 3 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "cocoa protein",
                    "type": "synonym"
                },
                {
                    "name": "hermansky-Pudlak syndrome 3 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps3",
                    "type": "recommended"
                },
                {
                    "name": "Coa",
                    "type": "synonym"
                },
                {
                    "name": "Hps3",
                    "type": "synonym"
                },
                {
                    "name": "coa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VB4-1",
            "evidence": [
                {
                    "id": "0060541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969F9-1",
            "uniprot_ac": "Q969F9",
            "uniprot_id": "HPS3_HUMAN",
            "refseq_ac": "NP_001295187",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-2 complex member HPS3",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-2 complex member HPS3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-2 complex member HPS3",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 3 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPS3",
                    "type": "recommended"
                },
                {
                    "name": "BLOC2S1",
                    "type": "synonym"
                },
                {
                    "name": "HPS3",
                    "type": "synonym"
                },
                {
                    "name": "SUTAL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969F9-1",
            "evidence": [
                {
                    "id": "614072",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614072"
                },
                {
                    "id": "0060541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGG8-1",
            "uniprot_ac": "D3ZGG8",
            "uniprot_id": "D3ZGG8_RAT",
            "refseq_ac": "NP_001101134",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hermansky-Pudlak syndrome 3 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-2 complex member HPS3",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 3 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps3",
                    "type": "recommended"
                },
                {
                    "name": "Hps3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGG8-1",
            "evidence": [
                {
                    "id": "0060541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNX0-1",
            "uniprot_ac": "Q9VNX0",
            "uniprot_id": "Q9VNX0_DROME",
            "refseq_ac": "NP_001262199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14562-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NP_649372",
                    "type": "recommended"
                },
                {
                    "name": "CG14562",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14562",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14562",
                    "type": "synonym"
                },
                {
                    "name": "HPS3",
                    "type": "synonym"
                },
                {
                    "name": "NP_649372",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.241",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNX0-1",
            "evidence": [
                {
                    "id": "0060541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060541"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060541"
}