{
    "disease_id": "DOID:0060546",
    "recommended_name": {
        "id": "DOID:0060546",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060546",
        "name": "Hermansky-Pudlak syndrome 8",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "Hermansky-Pudlak syndrome 8",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene."
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "BLOC1S3 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "HPS8",
            "description": ""
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "Hermansky-Pudlak syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3",
            "description": ""
        },
        {
            "id": "MONDO:0013560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "name": "Hermansky-Pudlak syndrome type 8",
            "description": ""
        },
        {
            "id": "MIM:614077",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614077",
            "name": "Hermansky-Pudlak syndrome 8",
            "description": "Hermansky-Pudlak syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060546"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060546",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060546",
            "categories": []
        },
        {
            "id": "MONDO:0013560",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013560",
            "categories": []
        },
        {
            "id": "MIM:614077",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614077",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FC96-1",
            "uniprot_ac": "E7FC96",
            "uniprot_id": "E7FC96_DANRE",
            "refseq_ac": "NP_001296460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "palmitoyl-CoA hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC406830 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bloc1s3",
                    "type": "recommended"
                },
                {
                    "name": "ppt2a.3",
                    "type": "recommended"
                },
                {
                    "name": "ppt2a.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc23c11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi06h07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114034",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55413",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FC96-1",
            "evidence": [
                {
                    "id": "0060546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U5M8-1",
            "uniprot_ac": "Q5U5M8",
            "uniprot_id": "BL1S3_MOUSE",
            "refseq_ac": "NP_808360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Bloc-1 complex component",
                    "type": "synonym"
                },
                {
                    "name": "Bloc1 subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Reduced pigmentation protein",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex-1, subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "reduced pigmentation protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bloc1s3",
                    "type": "recommended"
                },
                {
                    "name": "Bloc1s3",
                    "type": "synonym"
                },
                {
                    "name": "Blos3",
                    "type": "synonym"
                },
                {
                    "name": "E230011O18",
                    "type": "synonym"
                },
                {
                    "name": "Rp",
                    "type": "synonym"
                },
                {
                    "name": "rp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U5M8-1",
            "evidence": [
                {
                    "id": "0060546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6QNY0-1",
            "uniprot_ac": "Q6QNY0",
            "uniprot_id": "BL1S3_HUMAN",
            "refseq_ac": "NP_997715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex-1, subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "reduced pigmentation, mouse, homolog of",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BLOC1S3",
                    "type": "recommended"
                },
                {
                    "name": "BLOC1S3",
                    "type": "synonym"
                },
                {
                    "name": "BLOS3",
                    "type": "synonym"
                },
                {
                    "name": "HPS8",
                    "type": "synonym"
                },
                {
                    "name": "RP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6QNY0-1",
            "evidence": [
                {
                    "id": "614077",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614077"
                },
                {
                    "id": "0060546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L6C9-1",
            "uniprot_ac": "A0ABK0L6C9",
            "uniprot_id": "A0ABK0L6C9_RAT",
            "refseq_ac": "NP_001388177",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex-1, subunit 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bloc1s3",
                    "type": "recommended"
                },
                {
                    "name": "Bloc1s3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L6C9-1",
            "evidence": [
                {
                    "id": "0060546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JNV4-1",
            "uniprot_ac": "A8JNV4",
            "uniprot_id": "BL1S3_DROME",
            "refseq_ac": "NP_001097640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Blos3-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG34255-PA",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1, subunit 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Blos3",
                    "type": "recommended"
                },
                {
                    "name": "BLOS3",
                    "type": "synonym"
                },
                {
                    "name": "Blos3",
                    "type": "synonym"
                },
                {
                    "name": "CG34255",
                    "type": "synonym"
                },
                {
                    "name": "Dm Blos3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34255",
                    "type": "synonym"
                },
                {
                    "name": "NP_001097640",
                    "type": "synonym"
                },
                {
                    "name": "blos3",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JNV4-1",
            "evidence": [
                {
                    "id": "0060546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060546"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060546"
}