{
    "disease_id": "DOID:0060542",
    "recommended_name": {
        "id": "DOID:0060542",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060542",
        "name": "Hermansky-Pudlak syndrome 4",
        "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0013556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013556",
            "name": "Hermansky-Pudlak syndrome 4",
            "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene."
        },
        {
            "id": "MONDO:0013556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013556",
            "name": "HPS4 Hermansky-Pudlak syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013556",
            "name": "Hermansky-Pudlak syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0013556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013556",
            "name": "Hermansky-Pudlak syndrome caused by mutation in HPS4",
            "description": ""
        },
        {
            "id": "MONDO:0013556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013556",
            "name": "Hermansky-Pudlak syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013556",
            "name": "HPS4",
            "description": ""
        },
        {
            "id": "MIM:614073",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614073",
            "name": "Hermansky-Pudlak syndrome 4",
            "description": "Hermansky-Pudlak syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060542"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060542",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060542",
            "categories": []
        },
        {
            "id": "MONDO:0013556",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013556",
            "categories": []
        },
        {
            "id": "MIM:614073",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614073",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99KG7-1",
            "uniprot_ac": "Q99KG7",
            "uniprot_id": "HPS4_MOUSE",
            "refseq_ac": "NP_619587",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-3 complex member HPS4",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-3 complex member HPS4",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 4 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Le protein",
                    "type": "synonym"
                },
                {
                    "name": "Light-ear protein",
                    "type": "synonym"
                },
                {
                    "name": "hermansky-Pudlak syndrome 4 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "light ear",
                    "type": "synonym"
                },
                {
                    "name": "light-ear protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps4",
                    "type": "recommended"
                },
                {
                    "name": "2010205O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-3",
                    "type": "synonym"
                },
                {
                    "name": "C130020P05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hps4",
                    "type": "synonym"
                },
                {
                    "name": "Le",
                    "type": "synonym"
                },
                {
                    "name": "le",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1667",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99KG7-1",
            "evidence": [
                {
                    "id": "0060542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQG7-1",
            "uniprot_ac": "Q9NQG7",
            "uniprot_id": "HPS4_HUMAN",
            "refseq_ac": "NP_071364",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BLOC-3 complex member HPS4",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-3 complex member HPS4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-3 complex member HPS4",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "Light-ear protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "light-ear protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPS4",
                    "type": "recommended"
                },
                {
                    "name": "BLOC3S2",
                    "type": "synonym"
                },
                {
                    "name": "HPS4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1667",
                    "type": "synonym"
                },
                {
                    "name": "LE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQG7-1",
            "evidence": [
                {
                    "id": "614073",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614073"
                },
                {
                    "id": "0060542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8YPH6-1",
            "uniprot_ac": "A0A8J8YPH6",
            "uniprot_id": "A0A8J8YPH6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "HPS4, biogenesis of lysosomal organelles complex 3 subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hps4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8J8YPH6-1",
            "evidence": [
                {
                    "id": "0060542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAX8-1",
            "uniprot_ac": "A1ZAX8",
            "uniprot_id": "A1ZAX8_DROME",
            "refseq_ac": "NP_611246",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4966-PA",
                    "type": "synonym"
                },
                {
                    "name": "HPS4-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 4 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Hermansky-Pudlak syndrome 4, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPS4",
                    "type": "recommended"
                },
                {
                    "name": "CG4966",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4966",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4966",
                    "type": "synonym"
                },
                {
                    "name": "HPS4",
                    "type": "synonym"
                },
                {
                    "name": "NP_725707",
                    "type": "synonym"
                },
                {
                    "name": "dHPS4",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAX8-1",
            "evidence": [
                {
                    "id": "0060542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060542"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060542"
}