{
    "disease_id": "DOID:0060544",
    "recommended_name": {
        "id": "DOID:0060544",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060544",
        "name": "Hermansky-Pudlak syndrome 6",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013558",
            "name": "Hermansky-Pudlak syndrome 6",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene."
        },
        {
            "id": "MONDO:0013558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013558",
            "name": "HPS6 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013558",
            "name": "Hermansky-Pudlak syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0013558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013558",
            "name": "Hermansky-Pudlak syndrome caused by mutation in HPS6",
            "description": ""
        },
        {
            "id": "MONDO:0013558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013558",
            "name": "Hermansky-Pudlak syndrome type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013558",
            "name": "HPS6",
            "description": ""
        },
        {
            "id": "MIM:614075",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614075",
            "name": "Hermansky-Pudlak syndrome 6",
            "description": "Hermansky-Pudlak syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060544"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060544",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060544",
            "categories": []
        },
        {
            "id": "MONDO:0013558",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013558",
            "categories": []
        },
        {
            "id": "MIM:614075",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614075",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BLY7-1",
            "uniprot_ac": "Q8BLY7",
            "uniprot_id": "HPS6_MOUSE",
            "refseq_ac": "NP_789742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-2 complex member HPS6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-2 complex member HPS6",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 6 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ruby-eye protein",
                    "type": "synonym"
                },
                {
                    "name": "Ru",
                    "type": "synonym"
                },
                {
                    "name": "hermansky-Pudlak syndrome 6 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ruby eye",
                    "type": "synonym"
                },
                {
                    "name": "ruby-eye protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps6",
                    "type": "recommended"
                },
                {
                    "name": "5330434M19Rik",
                    "type": "synonym"
                },
                {
                    "name": "BLOC2",
                    "type": "synonym"
                },
                {
                    "name": "Hps6",
                    "type": "synonym"
                },
                {
                    "name": "Ru",
                    "type": "synonym"
                },
                {
                    "name": "ru",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BLY7-1",
            "evidence": [
                {
                    "id": "0060544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86YV9-1",
            "uniprot_ac": "Q86YV9",
            "uniprot_id": "HPS6_HUMAN",
            "refseq_ac": "NP_079023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-2 complex member HPS6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-2 complex member HPS6",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome-6 protein (HPS6)",
                    "type": "synonym"
                },
                {
                    "name": "Ruby-eye protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ru",
                    "type": "synonym"
                },
                {
                    "name": "ruby-eye protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPS6",
                    "type": "recommended"
                },
                {
                    "name": "BLOC2S3",
                    "type": "synonym"
                },
                {
                    "name": "HPS6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86YV9-1",
            "evidence": [
                {
                    "id": "614075",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614075"
                },
                {
                    "id": "0060544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LDH9-1",
            "uniprot_ac": "A0ABK0LDH9",
            "uniprot_id": "A0ABK0LDH9_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "HPS6, biogenesis of lysosomal organelles complex 2 subunit 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps6",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LDH9-1",
            "evidence": [
                {
                    "id": "0060544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060544"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060544"
}