{
    "disease_id": "DOID:0080625",
    "recommended_name": {
        "id": "DOID:0080625",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080625",
        "name": "severe congenital neutropenia 1",
        "description": "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0042490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042490",
            "name": "neutropenia, severe congenital, 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0042490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042490",
            "name": "neutropenia, severe congenital 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0042490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042490",
            "name": "neutropenia, severe congenital, 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0042490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042490",
            "name": "SCN1",
            "description": ""
        },
        {
            "id": "MIM:202700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/202700",
            "name": "Neutropenia, severe congenital 1, autosomal dominant",
            "description": "Neutropenia, severe congenital 1, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080625"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080625",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080625",
            "categories": []
        },
        {
            "id": "MONDO:0042490",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0042490",
            "categories": []
        },
        {
            "id": "MIM:202700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/202700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UP87-1",
            "uniprot_ac": "Q3UP87",
            "uniprot_id": "ELNE_MOUSE",
            "refseq_ac": "NP_056594",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutrophil elastase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.37",
                    "type": "synonym"
                },
                {
                    "name": "Elastase-2",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte elastase",
                    "type": "synonym"
                },
                {
                    "name": "elastase 2, neutrophil",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte elastase",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil elastase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elane",
                    "type": "recommended"
                },
                {
                    "name": "Ela2",
                    "type": "synonym"
                },
                {
                    "name": "Elane",
                    "type": "synonym"
                },
                {
                    "name": "F430011M15Rik",
                    "type": "synonym"
                },
                {
                    "name": "NE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UP87-1",
            "evidence": [
                {
                    "id": "0080625",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080625"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08246-1",
            "uniprot_ac": "P08246",
            "uniprot_id": "ELNE_HUMAN",
            "refseq_ac": "NP_001963",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutrophil elastase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.37",
                    "type": "synonym"
                },
                {
                    "name": "Bone marrow serine protease",
                    "type": "synonym"
                },
                {
                    "name": "Elastase-2",
                    "type": "synonym"
                },
                {
                    "name": "HLE",
                    "type": "synonym"
                },
                {
                    "name": "Human leukocyte elastase",
                    "type": "synonym"
                },
                {
                    "name": "Medullasin",
                    "type": "synonym"
                },
                {
                    "name": "PMN elastase",
                    "type": "synonym"
                },
                {
                    "name": "bone marrow serine protease",
                    "type": "synonym"
                },
                {
                    "name": "elastase 2, neutrophil",
                    "type": "synonym"
                },
                {
                    "name": "elastase-2",
                    "type": "synonym"
                },
                {
                    "name": "granulocyte-derived elastase",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte elastase",
                    "type": "synonym"
                },
                {
                    "name": "medullasin",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil elastase preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "polymorphonuclear elastase",
                    "type": "synonym"
                },
                {
                    "name": "polymorphonuclear leukocyte elastase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELANE",
                    "type": "recommended"
                },
                {
                    "name": "ELA2",
                    "type": "synonym"
                },
                {
                    "name": "ELANE",
                    "type": "synonym"
                },
                {
                    "name": "GE",
                    "type": "synonym"
                },
                {
                    "name": "HLE",
                    "type": "synonym"
                },
                {
                    "name": "HNE",
                    "type": "synonym"
                },
                {
                    "name": "NE",
                    "type": "synonym"
                },
                {
                    "name": "PMN-E",
                    "type": "synonym"
                },
                {
                    "name": "SCN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08246-1",
            "evidence": [
                {
                    "id": "202700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/202700"
                },
                {
                    "id": "0080625",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080625"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A488-1",
            "uniprot_ac": "D4A488",
            "uniprot_id": "D4A488_RAT",
            "refseq_ac": "NP_001100237",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastase, neutrophil expressed",
                    "type": "synonym"
                },
                {
                    "name": "elastase 2, neutrophil",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil elastase precursor",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil elastase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elane",
                    "type": "recommended"
                },
                {
                    "name": "Ela2",
                    "type": "synonym"
                },
                {
                    "name": "Elane",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A488-1",
            "evidence": [
                {
                    "id": "0080625",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080625"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJH5-1",
            "uniprot_ac": "Q9JJH5",
            "uniprot_id": "F262_RAT",
            "refseq_ac": "NP_001029136",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2",
                    "type": "recommended"
                },
                {
                    "name": "6-Phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 (heart)",
                    "type": "synonym"
                },
                {
                    "name": "6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "6PF-2-K/Fru-2,6-P2ASE heart-type isozyme",
                    "type": "synonym"
                },
                {
                    "name": "6PF-2-K/Fru-2,6-P2ase 2",
                    "type": "synonym"
                },
                {
                    "name": "6PF-2-K/Fru-2,6-P2ase heart-type isozyme",
                    "type": "synonym"
                },
                {
                    "name": "PFK-2/FBPase-2",
                    "type": "synonym"
                },
                {
                    "name": "PFK/FBPase 2",
                    "type": "synonym"
                },
                {
                    "name": "RH2K",
                    "type": "synonym"
                },
                {
                    "name": "fructose 6-phosphate 2-kinase/fructose 2,6-bisphosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pfkfb2",
                    "type": "recommended"
                },
                {
                    "name": "PFK-2",
                    "type": "synonym"
                },
                {
                    "name": "Pfkfb2",
                    "type": "synonym"
                },
                {
                    "name": "RH2K",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJH5-1",
            "evidence": [
                {
                    "id": "0080625",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080625"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080625"
}