{
    "disease_id": "DOID:0060545",
    "recommended_name": {
        "id": "DOID:0060545",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060545",
        "name": "Hermansky-Pudlak syndrome 7",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3."
    },
    "synonyms": [
        {
            "id": "MONDO:0013559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013559",
            "name": "Hermansky-Pudlak syndrome 7",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene."
        },
        {
            "id": "MONDO:0013559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013559",
            "name": "DTNBP1 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013559",
            "name": "HPS7",
            "description": ""
        },
        {
            "id": "MONDO:0013559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013559",
            "name": "Hermansky-Pudlak syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0013559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013559",
            "name": "Hermansky-Pudlak syndrome caused by mutation in DTNBP1",
            "description": ""
        },
        {
            "id": "MONDO:0013559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013559",
            "name": "Hermansky-Pudlak syndrome type 7",
            "description": ""
        },
        {
            "id": "MIM:614076",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614076",
            "name": "Hermansky-Pudlak syndrome 7",
            "description": "Hermansky-Pudlak syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060545"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060545",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060545",
            "categories": []
        },
        {
            "id": "MONDO:0013559",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013559",
            "categories": []
        },
        {
            "id": "MIM:614076",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614076",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZWE6-1",
            "uniprot_ac": "Q7ZWE6",
            "uniprot_id": "DTB1A_DANRE",
            "refseq_ac": "NP_957428",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysbindin-A",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 8-A",
                    "type": "synonym"
                },
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 8-A",
                    "type": "synonym"
                },
                {
                    "name": "Dystrobrevin-binding protein 1-A",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 8-A",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin-A",
                    "type": "synonym"
                },
                {
                    "name": "dystrobrevin binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dystrobrevin-binding protein 1-A",
                    "type": "synonym"
                },
                {
                    "name": "hps7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dtnbp1a",
                    "type": "recommended"
                },
                {
                    "name": "bloc1s8",
                    "type": "synonym"
                },
                {
                    "name": "dtnbp1a",
                    "type": "synonym"
                },
                {
                    "name": "dtnbp1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56462",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZWE6-1",
            "evidence": [
                {
                    "id": "0060545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WZ8-1",
            "uniprot_ac": "Q91WZ8",
            "uniprot_id": "DTBP1_MOUSE",
            "refseq_ac": "NP_080048",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysbindin",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Dysbindin-1",
                    "type": "synonym"
                },
                {
                    "name": "Dystrobrevin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HPS7 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 7 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin-1",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin",
                    "type": "synonym"
                },
                {
                    "name": "hermansky-Pudlak syndrome 7 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "sandy",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dtnbp1",
                    "type": "recommended"
                },
                {
                    "name": "5430437B18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bloc1s8",
                    "type": "synonym"
                },
                {
                    "name": "Dtnbp1",
                    "type": "synonym"
                },
                {
                    "name": "Sdy",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin",
                    "type": "synonym"
                },
                {
                    "name": "sdy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WZ8-1",
            "evidence": [
                {
                    "id": "0060545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EV8-1",
            "uniprot_ac": "Q96EV8",
            "uniprot_id": "DTBP1_HUMAN",
            "refseq_ac": "NP_001258596",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysbindin",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Dysbindin-1",
                    "type": "synonym"
                },
                {
                    "name": "Dystrobrevin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HPS7 protein",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosomal organelles complex-1, subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin isoform C",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DTNBP1",
                    "type": "recommended"
                },
                {
                    "name": "BLOC1S8",
                    "type": "synonym"
                },
                {
                    "name": "DBND",
                    "type": "synonym"
                },
                {
                    "name": "DTNBP1",
                    "type": "synonym"
                },
                {
                    "name": "HPS7",
                    "type": "synonym"
                },
                {
                    "name": "My031",
                    "type": "synonym"
                },
                {
                    "name": "SDY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EV8-1",
            "evidence": [
                {
                    "id": "614076",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614076"
                },
                {
                    "id": "0060545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M834-1",
            "uniprot_ac": "Q5M834",
            "uniprot_id": "DTBP1_RAT",
            "refseq_ac": "NP_001032753",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysbindin",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Dysbindin-1",
                    "type": "synonym"
                },
                {
                    "name": "Dystrobrevin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "distrobrevin binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin-1",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dtnbp1",
                    "type": "recommended"
                },
                {
                    "name": "Bloc1s8",
                    "type": "synonym"
                },
                {
                    "name": "Dtnbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M834-1",
            "evidence": [
                {
                    "id": "0060545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVT5-1",
            "uniprot_ac": "Q9VVT5",
            "uniprot_id": "DTBP1_DROME",
            "refseq_ac": "NP_001262023",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dysbindin protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "CG6856-PB",
                    "type": "synonym"
                },
                {
                    "name": "Dysb-PB",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin ortholog",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dysb",
                    "type": "recommended"
                },
                {
                    "name": "CG6856",
                    "type": "synonym"
                },
                {
                    "name": "Ddysb",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6856",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6856",
                    "type": "synonym"
                },
                {
                    "name": "Dysb",
                    "type": "synonym"
                },
                {
                    "name": "NP_649064",
                    "type": "synonym"
                },
                {
                    "name": "dysbindin",
                    "type": "synonym"
                },
                {
                    "name": "dysb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVT5-1",
            "evidence": [
                {
                    "id": "0060545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060545"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060545"
}