{
    "disease_id": "DOID:0060547",
    "recommended_name": {
        "id": "DOID:0060547",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060547",
        "name": "Hermansky-Pudlak syndrome 9",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0013606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013606",
            "name": "Hermansky-Pudlak syndrome 9",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene."
        },
        {
            "id": "MONDO:0013606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013606",
            "name": "BLOC1S6 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013606",
            "name": "HPS9",
            "description": ""
        },
        {
            "id": "MONDO:0013606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013606",
            "name": "Hermansky-Pudlak syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0013606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013606",
            "name": "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6",
            "description": ""
        },
        {
            "id": "MONDO:0013606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013606",
            "name": "Hermansky-Pudlak syndrome type 9",
            "description": ""
        },
        {
            "id": "MIM:614171",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614171",
            "name": "Hermansky-Pudlak syndrome 9",
            "description": "Hermansky-Pudlak syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060547"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060547",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060547",
            "categories": []
        },
        {
            "id": "MONDO:0013606",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013606",
            "categories": []
        },
        {
            "id": "MIM:614171",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614171",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QGH2-1",
            "uniprot_ac": "E9QGH2",
            "uniprot_id": "E9QGH2_DANRE",
            "refseq_ac": "NP_001074166",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "pallidin homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bloc1s6",
                    "type": "recommended"
                },
                {
                    "name": "bloc1s6",
                    "type": "synonym"
                },
                {
                    "name": "pldn",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158718",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QGH2-1",
            "evidence": [
                {
                    "id": "0060547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0C0-1",
            "uniprot_ac": "Q9R0C0",
            "uniprot_id": "BL1S6_MOUSE",
            "refseq_ac": "NP_062762",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Pallid protein",
                    "type": "synonym"
                },
                {
                    "name": "Pallidin",
                    "type": "synonym"
                },
                {
                    "name": "Syntaxin 13-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of organelles complex-1, subunit 6, pallidin",
                    "type": "synonym"
                },
                {
                    "name": "pallid protein",
                    "type": "synonym"
                },
                {
                    "name": "pallidin",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 13 binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 13-interacting protein pallid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bloc1s6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1",
                    "type": "synonym"
                },
                {
                    "name": "Bloc1s6",
                    "type": "synonym"
                },
                {
                    "name": "Hps9",
                    "type": "synonym"
                },
                {
                    "name": "P2",
                    "type": "synonym"
                },
                {
                    "name": "Pa",
                    "type": "synonym"
                },
                {
                    "name": "Pldn",
                    "type": "synonym"
                },
                {
                    "name": "Stx13bp1",
                    "type": "synonym"
                },
                {
                    "name": "pa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0C0-1",
            "evidence": [
                {
                    "id": "0060547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UL45-1",
            "uniprot_ac": "Q9UL45",
            "uniprot_id": "BL1S6_HUMAN",
            "refseq_ac": "NP_036520",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-1 subunit pallidin",
                    "type": "synonym"
                },
                {
                    "name": "Pallid protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pallidin",
                    "type": "synonym"
                },
                {
                    "name": "Syntaxin 13-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosomal organelles complex-1, subunit 5, pallidin",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosomal organelles complex-1, subunit 6, pallidin",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "pallid protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 13 binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 13-interacting protein pallid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BLOC1S6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC1S6",
                    "type": "synonym"
                },
                {
                    "name": "BLOS6",
                    "type": "synonym"
                },
                {
                    "name": "HPS9",
                    "type": "synonym"
                },
                {
                    "name": "PALLID",
                    "type": "synonym"
                },
                {
                    "name": "PA",
                    "type": "synonym"
                },
                {
                    "name": "PLDN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UL45-1",
            "evidence": [
                {
                    "id": "614171",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614171"
                },
                {
                    "id": "0060547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8A6-1",
            "uniprot_ac": "Q4V8A6",
            "uniprot_id": "BL1S6_RAT",
            "refseq_ac": "NP_001020885",
            "glycoprotein": "yes",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Pallid protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pallidin",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosomal organelles complex-1, subunit 6, pallidin",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "pallid protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "pallidin homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bloc1s6",
                    "type": "recommended"
                },
                {
                    "name": "Bloc1s6",
                    "type": "synonym"
                },
                {
                    "name": "Pldn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8A6-1",
            "evidence": [
                {
                    "id": "0060547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060547"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTM0-1",
            "uniprot_ac": "Q9VTM0",
            "uniprot_id": "BL1S6_DROME",
            "refseq_ac": "NP_648494",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "CG14133-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pallid protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pldn-PB",
                    "type": "synonym"
                },
                {
                    "name": "pallidin ortholog",
                    "type": "synonym"
                },
                {
                    "name": "pallidin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pldn",
                    "type": "recommended"
                },
                {
                    "name": "CG14133",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14133",
                    "type": "synonym"
                },
                {
                    "name": "NP_648494",
                    "type": "synonym"
                },
                {
                    "name": "Pallidin",
                    "type": "synonym"
                },
                {
                    "name": "Pldn",
                    "type": "synonym"
                },
                {
                    "name": "pallidin",
                    "type": "synonym"
                },
                {
                    "name": "pldn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTM0-1",
            "evidence": [
                {
                    "id": "0060547",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060547"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060547"
}