{
    "disease_id": "DOID:0112131",
    "recommended_name": {
        "id": "DOID:0112131",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112131",
        "name": "severe congenital neutropenia 2",
        "description": "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112131",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112131",
            "name": "SCN2",
            "description": ""
        },
        {
            "id": "MONDO:0013139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013139",
            "name": "neutropenia, severe congenital, 2, autosomal dominant",
            "description": "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene."
        },
        {
            "id": "MONDO:0013139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013139",
            "name": "GFI1 autosomal dominant severe congenital neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0013139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013139",
            "name": "autosomal dominant severe congenital neutropenia caused by mutation in GFI1",
            "description": ""
        },
        {
            "id": "MONDO:0013139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013139",
            "name": "neutropenia, severe congenital 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013139",
            "name": "neutropenia, severe congenital, 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013139",
            "name": "SCN2",
            "description": ""
        },
        {
            "id": "MIM:613107",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613107",
            "name": "Neutropenia, severe congenital 2, autosomal dominant",
            "description": "Neutropenia, severe congenital 2, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112131"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112131",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112131",
            "categories": []
        },
        {
            "id": "MONDO:0013139",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013139",
            "categories": []
        },
        {
            "id": "MIM:613107",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613107",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U1L7-1",
            "uniprot_ac": "A0AB32U1L7",
            "uniprot_id": "A0AB32U1L7_DANRE",
            "refseq_ac": "XP_068080241",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth factor independent 1A transcription repressor a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independent 1A transcription repressor a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gfi1aa",
                    "type": "recommended"
                },
                {
                    "name": "gfi1.1",
                    "type": "synonym"
                },
                {
                    "name": "gfi1aa",
                    "type": "synonym"
                },
                {
                    "name": "gfi1a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113277",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U1L7-1",
            "evidence": [
                {
                    "id": "0112131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70338-1",
            "uniprot_ac": "P70338",
            "uniprot_id": "GFI1_MOUSE",
            "refseq_ac": "NP_034408",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein Gfi-1",
                    "type": "recommended"
                },
                {
                    "name": "Growth factor independent protein 1",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independent protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfi1",
                    "type": "recommended"
                },
                {
                    "name": "Gfi-1",
                    "type": "synonym"
                },
                {
                    "name": "Gfi1",
                    "type": "synonym"
                },
                {
                    "name": "Pal-1",
                    "type": "synonym"
                },
                {
                    "name": "Pal1",
                    "type": "synonym"
                }
            ],
            "record_id": "P70338-1",
            "evidence": [
                {
                    "id": "0112131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99684-1",
            "uniprot_ac": "Q99684",
            "uniprot_id": "GFI1_HUMAN",
            "refseq_ac": "NP_001120687",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein Gfi-1",
                    "type": "recommended"
                },
                {
                    "name": "Growth factor independent protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 163",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independence-1",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independent 1 transcription repressor",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independent protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 163",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GFI1",
                    "type": "recommended"
                },
                {
                    "name": "GFI-1",
                    "type": "synonym"
                },
                {
                    "name": "GFI1A",
                    "type": "synonym"
                },
                {
                    "name": "GFI1",
                    "type": "synonym"
                },
                {
                    "name": "SCN2",
                    "type": "synonym"
                },
                {
                    "name": "ZNF163",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99684-1",
            "evidence": [
                {
                    "id": "613107",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613107"
                },
                {
                    "id": "0112131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07120-1",
            "uniprot_ac": "Q07120",
            "uniprot_id": "GFI1_RAT",
            "refseq_ac": "NP_036698",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein Gfi-1",
                    "type": "recommended"
                },
                {
                    "name": "Growth factor independent protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Growth factor independent-1",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independent 1 transcription repressor",
                    "type": "synonym"
                },
                {
                    "name": "growth factor independent protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Gfi-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gfi1",
                    "type": "recommended"
                },
                {
                    "name": "Gfi-1",
                    "type": "synonym"
                },
                {
                    "name": "Gfi1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07120-1",
            "evidence": [
                {
                    "id": "0112131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM77-1",
            "uniprot_ac": "Q9VM77",
            "uniprot_id": "Q9VM77_DROME",
            "refseq_ac": "NP_001285692",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31632-PB",
                    "type": "synonym"
                },
                {
                    "name": "Senseless-2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Senseless-2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sens-2-PB",
                    "type": "synonym"
                },
                {
                    "name": "senseless-2, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sens-2",
                    "type": "recommended"
                },
                {
                    "name": "CG11243",
                    "type": "synonym"
                },
                {
                    "name": "CG17373",
                    "type": "synonym"
                },
                {
                    "name": "CG31632",
                    "type": "synonym"
                },
                {
                    "name": "D.m Sens-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31632",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31632",
                    "type": "synonym"
                },
                {
                    "name": "Sens-2",
                    "type": "synonym"
                },
                {
                    "name": "sens-2",
                    "type": "synonym"
                },
                {
                    "name": "sens2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM77-1",
            "evidence": [
                {
                    "id": "0112131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BTC0-4",
            "uniprot_ac": "Q9BTC0",
            "uniprot_id": "DIDO1_HUMAN",
            "refseq_ac": "NP_001180298",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Death-inducer obliterator 1",
                    "type": "recommended"
                },
                {
                    "name": "DATF-1",
                    "type": "synonym"
                },
                {
                    "name": "DIO-1",
                    "type": "synonym"
                },
                {
                    "name": "Death-associated transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "death-associated transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "death-inducer obliterator 1 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "hDido1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DIDO1",
                    "type": "recommended"
                },
                {
                    "name": "BYE1",
                    "type": "synonym"
                },
                {
                    "name": "C20orf158",
                    "type": "synonym"
                },
                {
                    "name": "DATF-1",
                    "type": "synonym"
                },
                {
                    "name": "DATF1",
                    "type": "synonym"
                },
                {
                    "name": "DIDO1",
                    "type": "synonym"
                },
                {
                    "name": "DIDO2",
                    "type": "synonym"
                },
                {
                    "name": "DIDO3",
                    "type": "synonym"
                },
                {
                    "name": "DIO-1",
                    "type": "synonym"
                },
                {
                    "name": "DIO1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0333",
                    "type": "synonym"
                },
                {
                    "name": "dJ885L7.8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BTC0-4",
            "evidence": [
                {
                    "id": "0112131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112131"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112131"
}