{
    "disease_id": "DOID:0112132",
    "recommended_name": {
        "id": "DOID:0112132",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112132",
        "name": "severe congenital neutropenia 5",
        "description": "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112132",
            "name": "SCN5",
            "description": ""
        },
        {
            "id": "DOID:0112132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112132",
            "name": "VPS45 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112132",
            "name": "congenital neutropenia-myelofibrosis-nephromegaly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112132",
            "name": "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "congenital neutropenia-myelofibrosis-nephromegaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "vps45 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "SCN5",
            "description": ""
        },
        {
            "id": "MONDO:0014118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "name": "neutropenia, severe congenital, 5, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615285",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615285",
            "name": "Neutropenia, severe congenital 5, autosomal recessive",
            "description": "Neutropenia, severe congenital 5, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112132"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112132",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112132",
            "categories": []
        },
        {
            "id": "MONDO:0014118",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014118",
            "categories": []
        },
        {
            "id": "MIM:615285",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615285",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A8E7N5-1",
            "uniprot_ac": "A8E7N5",
            "uniprot_id": "A8E7N5_DANRE",
            "refseq_ac": "NP_001243585",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 45",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps45",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-200h23.3",
                    "type": "synonym"
                },
                {
                    "name": "vps45",
                    "type": "synonym"
                }
            ],
            "record_id": "A8E7N5-1",
            "evidence": [
                {
                    "id": "0112132",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112132"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97390-1",
            "uniprot_ac": "P97390",
            "uniprot_id": "VPS45_MOUSE",
            "refseq_ac": "NP_038869",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 45",
                    "type": "recommended"
                },
                {
                    "name": "mVps45",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting protein 45",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps45",
                    "type": "recommended"
                },
                {
                    "name": "Vps45a",
                    "type": "synonym"
                },
                {
                    "name": "Vps45",
                    "type": "synonym"
                },
                {
                    "name": "mVps45",
                    "type": "synonym"
                }
            ],
            "record_id": "P97390-1",
            "evidence": [
                {
                    "id": "0112132",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112132"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRW7-1",
            "uniprot_ac": "Q9NRW7",
            "uniprot_id": "VPS45_HUMAN",
            "refseq_ac": "NP_001266282",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 45",
                    "type": "recommended"
                },
                {
                    "name": "h-VPS45",
                    "type": "synonym"
                },
                {
                    "name": "hlVps45",
                    "type": "synonym"
                },
                {
                    "name": "leucocyte vacuolar protein sorting 45",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 45A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 45 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS45",
                    "type": "recommended"
                },
                {
                    "name": "H1VPS45",
                    "type": "synonym"
                },
                {
                    "name": "H1",
                    "type": "synonym"
                },
                {
                    "name": "SCN5",
                    "type": "synonym"
                },
                {
                    "name": "VPS45A",
                    "type": "synonym"
                },
                {
                    "name": "VPS45B",
                    "type": "synonym"
                },
                {
                    "name": "VPS45",
                    "type": "synonym"
                },
                {
                    "name": "VPS54A",
                    "type": "synonym"
                },
                {
                    "name": "VSP45A",
                    "type": "synonym"
                },
                {
                    "name": "VSP45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRW7-1",
            "evidence": [
                {
                    "id": "615285",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615285"
                },
                {
                    "id": "0112132",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112132"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38932-1",
            "uniprot_ac": "P38932",
            "uniprot_id": "VPS45_YEAST",
            "refseq_ac": "NP_011420",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 45",
                    "type": "recommended"
                },
                {
                    "name": "Vps45p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS45",
                    "type": "recommended"
                },
                {
                    "name": "STT10",
                    "type": "synonym"
                },
                {
                    "name": "VPL28",
                    "type": "synonym"
                },
                {
                    "name": "VPS45",
                    "type": "synonym"
                }
            ],
            "record_id": "P38932-1",
            "evidence": [
                {
                    "id": "0112132",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112132"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08700-1",
            "uniprot_ac": "O08700",
            "uniprot_id": "VPS45_RAT",
            "refseq_ac": "NP_742069",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 45",
                    "type": "recommended"
                },
                {
                    "name": "rVps45",
                    "type": "synonym"
                },
                {
                    "name": "rvps45",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 45",
                    "type": "synonym"
                },
                {
                    "name": "vesicular transport protein rvps45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps45",
                    "type": "recommended"
                },
                {
                    "name": "Vps45a",
                    "type": "synonym"
                },
                {
                    "name": "Vps45",
                    "type": "synonym"
                },
                {
                    "name": "Vsp45a",
                    "type": "synonym"
                }
            ],
            "record_id": "O08700-1",
            "evidence": [
                {
                    "id": "0112132",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112132"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHB5-1",
            "uniprot_ac": "Q9VHB5",
            "uniprot_id": "Q9VHB5_DROME",
            "refseq_ac": "NP_649909",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 45",
                    "type": "recommended"
                },
                {
                    "name": "CG8228-PA",
                    "type": "synonym"
                },
                {
                    "name": "Vps45-PA",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps45",
                    "type": "recommended"
                },
                {
                    "name": "CG8228",
                    "type": "synonym"
                },
                {
                    "name": "DmVps45",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8228",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8228",
                    "type": "synonym"
                },
                {
                    "name": "MENE (3R)-C",
                    "type": "synonym"
                },
                {
                    "name": "MENE(3R)-C",
                    "type": "synonym"
                },
                {
                    "name": "VPS45",
                    "type": "synonym"
                },
                {
                    "name": "Vps45p",
                    "type": "synonym"
                },
                {
                    "name": "Vps45",
                    "type": "synonym"
                },
                {
                    "name": "dVps45",
                    "type": "synonym"
                },
                {
                    "name": "vps45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHB5-1",
            "evidence": [
                {
                    "id": "0112132",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112132"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112132"
}