{
    "disease_id": "DOID:0060543",
    "recommended_name": {
        "id": "DOID:0060543",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060543",
        "name": "Hermansky-Pudlak syndrome 5",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14."
    },
    "synonyms": [
        {
            "id": "MONDO:0013557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013557",
            "name": "Hermansky-Pudlak syndrome 5",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene."
        },
        {
            "id": "MONDO:0013557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013557",
            "name": "HPS5 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013557",
            "name": "Hermansky-Pudlak syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0013557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013557",
            "name": "Hermansky-Pudlak syndrome caused by mutation in HPS5",
            "description": ""
        },
        {
            "id": "MONDO:0013557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013557",
            "name": "Hermansky-Pudlak syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013557",
            "name": "HPS5",
            "description": ""
        },
        {
            "id": "MIM:614074",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614074",
            "name": "Hermansky-Pudlak syndrome 5",
            "description": "Hermansky-Pudlak syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060543"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060543",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060543",
            "categories": []
        },
        {
            "id": "MONDO:0013557",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013557",
            "categories": []
        },
        {
            "id": "MIM:614074",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614074",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6NLH0-1",
            "uniprot_ac": "F6NLH0",
            "uniprot_id": "F6NLH0_DANRE",
            "refseq_ac": "NP_001083008",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hermansky-Pudlak syndrome 5 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-2 complex member HPS5",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 5",
                    "type": "synonym"
                },
                {
                    "name": "snow white",
                    "type": "synonym"
                },
                {
                    "name": "snw",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hps5",
                    "type": "recommended"
                },
                {
                    "name": "hps5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162420",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NLH0-1",
            "evidence": [
                {
                    "id": "0060543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59438-1",
            "uniprot_ac": "P59438",
            "uniprot_id": "HPS5_MOUSE",
            "refseq_ac": "NP_001005247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-2 complex member HPS5",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-2 complex member HPS5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-2 complex member HPS5",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 5 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ru2",
                    "type": "synonym"
                },
                {
                    "name": "Ruby-eye protein 2",
                    "type": "synonym"
                },
                {
                    "name": "hermansky-Pudlak syndrome 5 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ruby eye 2",
                    "type": "synonym"
                },
                {
                    "name": "ruby-eye protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps5",
                    "type": "recommended"
                },
                {
                    "name": "Hps5",
                    "type": "synonym"
                },
                {
                    "name": "Ru2",
                    "type": "synonym"
                },
                {
                    "name": "haze",
                    "type": "synonym"
                },
                {
                    "name": "hz",
                    "type": "synonym"
                },
                {
                    "name": "maroon",
                    "type": "synonym"
                },
                {
                    "name": "mr",
                    "type": "synonym"
                },
                {
                    "name": "ru-2",
                    "type": "synonym"
                },
                {
                    "name": "ru2",
                    "type": "synonym"
                }
            ],
            "record_id": "P59438-1",
            "evidence": [
                {
                    "id": "0060543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UPZ3-1",
            "uniprot_ac": "Q9UPZ3",
            "uniprot_id": "HPS5_HUMAN",
            "refseq_ac": "NP_009147",
            "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 HPS5",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-integrin-binding protein 63",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-2 complex member HPS5 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-2 complex member HPS5",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "Ru2",
                    "type": "synonym"
                },
                {
                    "name": "Ruby-eye protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "alpha integrin binding protein 63",
                    "type": "synonym"
                },
                {
                    "name": "ruby-eye protein 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPS5",
                    "type": "recommended"
                },
                {
                    "name": "AIBP63",
                    "type": "synonym"
                },
                {
                    "name": "BLOC2S2",
                    "type": "synonym"
                },
                {
                    "name": "HPS5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1017",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UPZ3-1",
            "evidence": [
                {
                    "id": "614074",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614074"
                },
                {
                    "id": "0060543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LS35-1",
            "uniprot_ac": "F1LS35",
            "uniprot_id": "F1LS35_RAT",
            "refseq_ac": "NP_001129084",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hermansky-Pudlak syndrome 5 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-2 complex member HPS5",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps5",
                    "type": "recommended"
                },
                {
                    "name": "Aa2-028",
                    "type": "synonym"
                },
                {
                    "name": "Ab1-018",
                    "type": "synonym"
                },
                {
                    "name": "Hps5",
                    "type": "synonym"
                },
                {
                    "name": "Saa4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LS35-1",
            "evidence": [
                {
                    "id": "0060543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060543"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHN9-1",
            "uniprot_ac": "Q9VHN9",
            "uniprot_id": "HPS5_DROME",
            "refseq_ac": "NP_001303455",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-2 complex member HPS5 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG9770-PB",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 5 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein pink",
                    "type": "synonym"
                },
                {
                    "name": "dHPS5",
                    "type": "synonym"
                },
                {
                    "name": "drosophila Hermansky-Pudlak syndrome 5 subunit",
                    "type": "synonym"
                },
                {
                    "name": "p-PB",
                    "type": "synonym"
                },
                {
                    "name": "pink, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "pink-peach",
                    "type": "synonym"
                },
                {
                    "name": "sunburst",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "p",
                    "type": "recommended"
                },
                {
                    "name": "CG9770",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9770",
                    "type": "synonym"
                },
                {
                    "name": "HPS5",
                    "type": "synonym"
                },
                {
                    "name": "NP_649810",
                    "type": "synonym"
                },
                {
                    "name": "dHPS5",
                    "type": "synonym"
                },
                {
                    "name": "p",
                    "type": "synonym"
                },
                {
                    "name": "snb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHN9-1",
            "evidence": [
                {
                    "id": "0060543",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060543"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060543"
}