{
    "disease_id": "DOID:0060539",
    "recommended_name": {
        "id": "DOID:0060539",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060539",
        "name": "Hermansky-Pudlak syndrome 1",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "Hermansky-Pudlak syndrome 1",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene."
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "HPS1 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "Hermansky-Pudlak syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "Hermansky-Pudlak syndrome caused by mutation in HPS1",
            "description": ""
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "Hermansky-Pudlak syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "name": "HPS1",
            "description": ""
        },
        {
            "id": "MIM:203300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203300",
            "name": "Hermansky-Pudlak syndrome 1",
            "description": "Hermansky-Pudlak syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060539"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060539",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060539",
            "categories": []
        },
        {
            "id": "MONDO:0008748",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008748",
            "categories": []
        },
        {
            "id": "MIM:203300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N8E1-1",
            "uniprot_ac": "A0A8M1N8E1",
            "uniprot_id": "A0A8M1N8E1_DANRE",
            "refseq_ac": "NP_001032777",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "synonym"
                },
                {
                    "name": "DKEYP-34H12.4",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hps1",
                    "type": "recommended"
                },
                {
                    "name": "hps1",
                    "type": "synonym"
                },
                {
                    "name": "im:7143944",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123240",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N8E1-1",
            "evidence": [
                {
                    "id": "0060539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AM99-1",
            "uniprot_ac": "A0A8M3AM99",
            "uniprot_id": "A0A8M3AM99_DANRE",
            "refseq_ac": "XP_009294540",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "ap3d1",
                    "type": "recommended"
                },
                {
                    "name": "ap3d1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-129c21.6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj51g01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AM99-1",
            "evidence": [
                {
                    "id": "0060539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08983-1",
            "uniprot_ac": "O08983",
            "uniprot_id": "HPS1_MOUSE",
            "refseq_ac": "NP_062297",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-3 complex member HPS1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "hermansky-Pudlak syndrome 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "pale ear",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps1",
                    "type": "recommended"
                },
                {
                    "name": "6030422N11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ep",
                    "type": "synonym"
                },
                {
                    "name": "Gm21361",
                    "type": "synonym"
                },
                {
                    "name": "Hps1",
                    "type": "synonym"
                },
                {
                    "name": "Hps",
                    "type": "synonym"
                },
                {
                    "name": "ep",
                    "type": "synonym"
                }
            ],
            "record_id": "O08983-1",
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                {
                    "id": "0060539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERI2-1",
            "uniprot_ac": "Q9ERI2",
            "uniprot_id": "RB27A_MOUSE",
            "refseq_ac": "NP_001288159",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-27A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ashen",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-27A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab27a",
                    "type": "recommended"
                },
                {
                    "name": "2210402C08Rik",
                    "type": "synonym"
                },
                {
                    "name": "2410003M20Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933437C11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rab27a",
                    "type": "synonym"
                },
                {
                    "name": "ash",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERI2-1",
            "evidence": [
                {
                    "id": "0060539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54774-1",
            "uniprot_ac": "O54774",
            "uniprot_id": "AP3D1_MOUSE",
            "refseq_ac": "NP_031486",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit delta-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-3 complex subunit delta-1 isoform 1",
                    "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 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",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap3d1",
                    "type": "recommended"
                },
                {
                    "name": "Ap3d1",
                    "type": "synonym"
                },
                {
                    "name": "Ap3d",
                    "type": "synonym"
                },
                {
                    "name": "Bolvr",
                    "type": "synonym"
                },
                {
                    "name": "mBLVR1",
                    "type": "synonym"
                },
                {
                    "name": "mh",
                    "type": "synonym"
                },
                {
                    "name": "mocha",
                    "type": "synonym"
                }
            ],
            "record_id": "O54774-1",
            "evidence": [
                {
                    "id": "0060539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92902-1",
            "uniprot_ac": "Q92902",
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            "refseq_ac": "NP_000186",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-3 complex member HPS1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPS1",
                    "type": "recommended"
                },
                {
                    "name": "BLOC3S1",
                    "type": "synonym"
                },
                {
                    "name": "HPS1",
                    "type": "synonym"
                },
                {
                    "name": "HPS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92902-1",
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                {
                    "id": "203300",
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                },
                {
                    "id": "0060539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00203-1",
            "uniprot_ac": "O00203",
            "uniprot_id": "AP3B1_HUMAN",
            "refseq_ac": "NP_001258698",
            "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 beta-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-3 complex beta-3A subunit",
                    "type": "synonym"
                },
                {
                    "name": "AP-3 complex subunit beta-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-3 subunit beta-1",
                    "type": "synonym"
                },
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-3 subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 3 beta 1 subunit",
                    "type": "synonym"
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                {
                    "name": "beta-3A-adaptin",
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                },
                {
                    "name": "clathrin assembly protein complex 3 beta-1 large chain",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "AP3B1",
                    "type": "recommended"
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                {
                    "name": "ADTB3A",
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                },
                {
                    "name": "ADTB3",
                    "type": "synonym"
                },
                {
                    "name": "AP3B1",
                    "type": "synonym"
                },
                {
                    "name": "HPS2",
                    "type": "synonym"
                },
                {
                    "name": "HPS",
                    "type": "synonym"
                },
                {
                    "name": "PE",
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                }
            ],
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                {
                    "id": "203300",
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                    "url": "https://www.omim.org/entry/203300"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08951-1",
            "uniprot_ac": "Q08951",
            "uniprot_id": "AP3D_YEAST",
            "refseq_ac": "NP_015129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "Adaptor-related protein complex 3 subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "Apl5p",
                    "type": "synonym"
                },
                {
                    "name": "Delta-adaptin 3",
                    "type": "synonym"
                },
                {
                    "name": "Delta-adaptin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "APL5",
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                {
                    "name": "APL5",
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                },
                {
                    "name": "YKS4",
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                    "id": "0060539",
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                }
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            "uniprot_canonical_ac": "A0A8I6AEI1-1",
            "uniprot_ac": "A0A8I6AEI1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "BLOC-3 complex member HPS1",
                    "type": "synonym"
                },
                {
                    "name": "HPS1, biogenesis of lysosomal organelles complex 3 subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 1 homolog",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hps1",
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                {
                    "name": "Hps1",
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                    "name": "Hps",
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                    "id": "0060539",
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                }
            ]
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                    "name": "Rattus norvegicus",
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "AP-3 complex subunit delta-1",
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                },
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                    "name": "AP-3 complex subunit delta-1",
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                {
                    "name": "AP-3 complex subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 3 subunit delta-1",
                    "type": "synonym"
                },
                {
                    "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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                    "name": "Ap3d1",
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                {
                    "name": "Ap3d1",
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                },
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                    "name": "Ap3d",
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                }
            ],
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                {
                    "id": "0060539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23640-1",
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            "uniprot_id": "RB27A_RAT",
            "refseq_ac": "NP_059013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-27A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Ram",
                    "type": "synonym"
                },
                {
                    "name": "Rab-27",
                    "type": "synonym"
                },
                {
                    "name": "Ram p25",
                    "type": "synonym"
                },
                {
                    "name": "low Mr GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "rab-27",
                    "type": "synonym"
                },
                {
                    "name": "ram p25",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-27A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab27a",
                    "type": "recommended"
                },
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                    "name": "Rab27a",
                    "type": "synonym"
                },
                {
                    "name": "Rab27",
                    "type": "synonym"
                },
                {
                    "name": "ram",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060539",
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                }
            ]
        },
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                {
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                    "name": "AP-3, delta subunit",
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                    "name": "Delta adaptin subunit of AP-3",
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                {
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                {
                    "name": "garnet, isoform B",
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                {
                    "name": "garnet",
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                {
                    "name": "lethal(1)Mc19",
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                {
                    "name": "salmon",
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            ],
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                    "name": "g",
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                {
                    "name": "AP-3delta",
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                },
                {
                    "name": "AP3delta",
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                {
                    "name": "CG10986",
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                    "name": "CG11197",
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                {
                    "name": "Dmel\\CG10986",
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                {
                    "name": "Dmel_CG10986",
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                {
                    "name": "apl5",
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                {
                    "name": "cg11197",
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                {
                    "name": "delta",
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                {
                    "name": "g",
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                {
                    "name": "l(1)Mc19",
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            ],
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                    "id": "0060539",
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                }
            ]
        },
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            "uniprot_canonical_ac": "O76901-1",
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                    "name": "Drosophila melanogaster",
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                }
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                    "name": "CG14791-PB",
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                {
                    "name": "Rab27, isoform B",
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                {
                    "name": "Rab27-PB",
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            ],
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                    "name": "18543235",
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                {
                    "name": "AAF45634",
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                {
                    "name": "AAF45635",
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                {
                    "name": "CG14791",
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                {
                    "name": "DmRab27",
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                {
                    "name": "Dmel\\CG14791",
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                {
                    "name": "Dmel_CG14791",
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                {
                    "name": "EG:80H7.4",
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                {
                    "name": "O76901",
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                {
                    "name": "Rab27",
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                {
                    "name": "dm-Rab27",
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                {
                    "name": "rab27",
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                    "id": "0060539",
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        },
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            "uniprot_canonical_ac": "O14617-1",
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                    "name": "Homo sapiens",
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                    "name": "AP-3 complex delta subunit, partial CDS",
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                {
                    "name": "AP-3 complex subunit delta-1 isoform 3",
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                {
                    "name": "AP-3 complex subunit delta-1",
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                {
                    "name": "AP-3 complex subunit delta",
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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": "adapter-related protein complex 3 subunit delta-1",
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                {
                    "name": "adaptor related protein complex 3 delta 1 subunit",
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                {
                    "name": "delta adaptin",
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                {
                    "name": "subunit of putative vesicle coat adaptor complex AP-3",
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            ],
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                    "name": "AP3D1",
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                    "name": "ADTD",
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                {
                    "name": "AP3D1",
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                {
                    "name": "HPS10",
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                {
                    "name": "PRO0039",
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                {
                    "name": "hBLVR",
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                    "id": "0060539",
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                }
            ]
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            "uniprot_canonical_ac": "P51159-1",
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                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Ras-related protein Rab-27A",
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                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Ram",
                    "type": "synonym"
                },
                {
                    "name": "Rab-27",
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                {
                    "name": "mutant Ras-related protein Rab-27A",
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                {
                    "name": "rab-27",
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                },
                {
                    "name": "ras-related protein Rab-27A",
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                }
            ],
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                    "name": "RAB27A",
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                {
                    "name": "GS2",
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                },
                {
                    "name": "HsT18676",
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                {
                    "name": "RAB27A",
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                {
                    "name": "RAB27",
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                {
                    "name": "RAM",
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                {
                    "id": "0060539",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060539"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060539"
}