{
    "disease_id": "DOID:0060540",
    "recommended_name": {
        "id": "DOID:0060540",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060540",
        "name": "Hermansky-Pudlak syndrome 2",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky-Pudlak syndrome 2",
            "description": "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "AP3B1 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "HPS-2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "HPS2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky-Pudlak syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky-Pudlak syndrome caused by mutation in AP3B1",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky-Pudlak syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Hermansky Pudlak syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "name": "Platelet defects and oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MIM:608233",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608233",
            "name": "Hermansky-Pudlak syndrome 2",
            "description": "Hermansky-Pudlak syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060540"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060540",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060540",
            "categories": []
        },
        {
            "id": "MONDO:0011997",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011997",
            "categories": []
        },
        {
            "id": "MIM:608233",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608233",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0AC58ICB1",
            "uniprot_id": "A0AC58ICB1_DANRE",
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            "glycoprotein": "yes",
            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "AP-3 complex subunit beta-1 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ap3b1a",
                    "type": "recommended"
                },
                {
                    "name": "ap3b1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58ICB1-1",
            "evidence": [
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                    "id": "0060540",
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                }
            ]
        },
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            "uniprot_ac": "A0A8M3AM99",
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            "refseq_ac": "XP_009294540",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "AP-3 complex subunit delta-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-3 complex subunit delta-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "AP-3 complex subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 3 subunit delta-1",
                    "type": "synonym"
                },
                {
                    "name": "Delta-adaptin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ap3d1",
                    "type": "recommended"
                },
                {
                    "name": "ap3d1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-129c21.6",
                    "type": "synonym"
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                {
                    "name": "wu:fj51g01",
                    "type": "synonym"
                }
            ],
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                    "id": "0060540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060540"
                }
            ]
        },
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "AP-3 complex subunit beta-1",
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                },
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                    "name": "Adaptor-related protein complex 3 subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Beta-3A-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 3 beta-1 large chain",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-3 beta-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-3 subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 3 subunit beta-1",
                    "type": "synonym"
                },
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                    "name": "adaptor-related protein complex AP-3 beta 1 subunit",
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                {
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                },
                {
                    "name": "clathrin assembly protein complex 3 beta-1 large chain",
                    "type": "synonym"
                },
                {
                    "name": "recombination induced mutation 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap3b1",
                    "type": "recommended"
                },
                {
                    "name": "AP-3",
                    "type": "synonym"
                },
                {
                    "name": "Ap3b1",
                    "type": "synonym"
                },
                {
                    "name": "Hps2",
                    "type": "synonym"
                },
                {
                    "name": "beta3A",
                    "type": "synonym"
                },
                {
                    "name": "pearl",
                    "type": "synonym"
                },
                {
                    "name": "pe",
                    "type": "synonym"
                },
                {
                    "name": "rim2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1T1-1",
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                    "id": "0060540",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54774-1",
            "uniprot_ac": "O54774",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit delta-1",
                    "type": "recommended"
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                {
                    "name": "AP-3 complex subunit delta-1 isoform 1",
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                },
                {
                    "name": "AP-3 complex subunit delta-1",
                    "type": "synonym"
                },
                {
                    "name": "AP-3 complex subunit delta",
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                },
                {
                    "name": "Adaptor-related protein complex 3 subunit delta-1",
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                },
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                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 3 subunit delta-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 3 subunit delta-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 3, delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-3, delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "delta-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "mBLVR1",
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                }
            ],
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                {
                    "name": "Ap3d1",
                    "type": "recommended"
                },
                {
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                },
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                    "name": "Ap3d",
                    "type": "synonym"
                },
                {
                    "name": "Bolvr",
                    "type": "synonym"
                },
                {
                    "name": "mBLVR1",
                    "type": "synonym"
                },
                {
                    "name": "mh",
                    "type": "synonym"
                },
                {
                    "name": "mocha",
                    "type": "synonym"
                }
            ],
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                    "id": "0060540",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00203-1",
            "uniprot_ac": "O00203",
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            "refseq_ac": "NP_001258698",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "AP-3 complex subunit beta-1",
                    "type": "recommended"
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                    "name": "AP-3 complex beta-3A subunit",
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                },
                {
                    "name": "AP-3 complex subunit beta-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-3 subunit beta-1",
                    "type": "synonym"
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                {
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                    "type": "synonym"
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                {
                    "name": "Beta-3A-adaptin",
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                {
                    "name": "Clathrin assembly protein complex 3 beta-1 large chain",
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                    "name": "adaptor protein complex AP-3 subunit beta-1",
                    "type": "synonym"
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                {
                    "name": "adaptor related protein complex 3 beta 1 subunit",
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                {
                    "name": "clathrin assembly protein complex 3 beta-1 large chain",
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            ],
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                    "name": "AP3B1",
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                {
                    "name": "ADTB3A",
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                },
                {
                    "name": "ADTB3",
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                },
                {
                    "name": "AP3B1",
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                {
                    "name": "HPS2",
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                },
                {
                    "name": "HPS",
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                {
                    "name": "PE",
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                }
            ],
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                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "AP-3 complex subunit beta",
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                    "name": "AP-3 complex subunit beta",
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                {
                    "name": "Adaptor-related protein complex 3 subunit beta",
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                {
                    "name": "Beta-3-adaptin",
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                {
                    "name": "Clathrin assembly protein complex 3 beta large chain",
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                    "name": "Clathrin assembly protein large beta chain",
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                    "name": "APL6",
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            ],
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                }
            ],
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                {
                    "name": "Olfactory receptor",
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                {
                    "name": "olfactory receptor 1117",
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                {
                    "name": "olfactory receptor Olr1117",
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                {
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                    "name": "Or7g23",
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                    "name": "Or7g23",
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                {
                    "name": "Adaptor-related protein complex 3 subunit delta-1",
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                    "name": "Delta-adaptin",
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                    "name": "adaptor-related protein complex 3, delta 1 subunit",
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                    "name": "adaptor-related protein complex 3, delta subunit",
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                }
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                    "type": "recommended"
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                    "name": "Ap3d",
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                    "id": "0060540",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060540"
                }
            ]
        },
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            "uniprot_ac": "Q9W4K1",
            "uniprot_id": "Q9W4K1_DROME",
            "refseq_ac": "NP_001162664",
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                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "AP-3 complex subunit beta",
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                    "name": "CG11427-PD",
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                {
                    "name": "adaptor protein complex 3, beta subunit",
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                {
                    "name": "rb-PD",
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                {
                    "name": "ruby, isoform D",
                    "type": "synonym"
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                {
                    "name": "ruby",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rb",
                    "type": "recommended"
                },
                {
                    "name": "AP-3beta",
                    "type": "synonym"
                },
                {
                    "name": "CG11427",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11427",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11427",
                    "type": "synonym"
                },
                {
                    "name": "Rb",
                    "type": "synonym"
                },
                {
                    "name": "apl6",
                    "type": "synonym"
                },
                {
                    "name": "beta3",
                    "type": "synonym"
                },
                {
                    "name": "cg11427",
                    "type": "synonym"
                },
                {
                    "name": "rb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4K1-1",
            "evidence": [
                {
                    "id": "0060540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54362-1",
            "uniprot_ac": "P54362",
            "uniprot_id": "AP3D_DROME",
            "refseq_ac": "NP_524785",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "AP-3, delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "CG10986-PB",
                    "type": "synonym"
                },
                {
                    "name": "Delta adaptin subunit of AP-3",
                    "type": "synonym"
                },
                {
                    "name": "Delta-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Garnet protein",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex 3, delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "g-PB",
                    "type": "synonym"
                },
                {
                    "name": "garnet, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "garnet",
                    "type": "synonym"
                },
                {
                    "name": "lethal(1)Mc19",
                    "type": "synonym"
                },
                {
                    "name": "salmon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "g",
                    "type": "recommended"
                },
                {
                    "name": "AP-3delta",
                    "type": "synonym"
                },
                {
                    "name": "AP3delta",
                    "type": "synonym"
                },
                {
                    "name": "CG10986",
                    "type": "synonym"
                },
                {
                    "name": "CG11197",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10986",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10986",
                    "type": "synonym"
                },
                {
                    "name": "apl5",
                    "type": "synonym"
                },
                {
                    "name": "cg11197",
                    "type": "synonym"
                },
                {
                    "name": "delta",
                    "type": "synonym"
                },
                {
                    "name": "g",
                    "type": "synonym"
                },
                {
                    "name": "l(1)Mc19",
                    "type": "synonym"
                }
            ],
            "record_id": "P54362-1",
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                {
                    "id": "0060540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14617-1",
            "uniprot_ac": "O14617",
            "uniprot_id": "AP3D1_HUMAN",
            "refseq_ac": "NP_001248755",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit delta-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-3 complex delta subunit, partial CDS",
                    "type": "synonym"
                },
                {
                    "name": "AP-3 complex subunit delta-1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "AP-3 complex subunit delta-1",
                    "type": "synonym"
                },
                {
                    "name": "AP-3 complex subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 3 subunit delta-1",
                    "type": "synonym"
                },
                {
                    "name": "Delta-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 3 subunit delta-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 3 delta 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "delta adaptin",
                    "type": "synonym"
                },
                {
                    "name": "subunit of putative vesicle coat adaptor complex AP-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP3D1",
                    "type": "recommended"
                },
                {
                    "name": "ADTD",
                    "type": "synonym"
                },
                {
                    "name": "AP3D1",
                    "type": "synonym"
                },
                {
                    "name": "HPS10",
                    "type": "synonym"
                },
                {
                    "name": "PRO0039",
                    "type": "synonym"
                },
                {
                    "name": "hBLVR",
                    "type": "synonym"
                }
            ],
            "record_id": "O14617-1",
            "evidence": [
                {
                    "id": "0060540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060540"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060540"
}