{
    "disease_id": "DOID:0050419",
    "recommended_name": {
        "id": "DOID:0050419",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050419",
        "name": "complement factor I deficiency",
        "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency."
    },
    "synonyms": [
        {
            "id": "DOID:0050419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050419",
            "name": "C3 INACTIVATOR DEFICIENCY",
            "description": ""
        },
        {
            "id": "DOID:0050419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050419",
            "name": "COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY",
            "description": ""
        },
        {
            "id": "MONDO:0012594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012594",
            "name": "complement factor I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012594",
            "name": "C3 inactivator deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012594",
            "name": "complement component 3 inactivator deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012594",
            "name": "complement factor I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012594",
            "name": "CFID",
            "description": ""
        },
        {
            "id": "MIM:610984",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610984",
            "name": "Complement factor I deficiency",
            "description": "Complement factor I deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050419"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050419",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050419",
            "categories": []
        },
        {
            "id": "MONDO:0012594",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012594",
            "categories": []
        },
        {
            "id": "MIM:610984",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610984",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61129-1",
            "uniprot_ac": "Q61129",
            "uniprot_id": "CFAI_MOUSE",
            "refseq_ac": "NP_031712",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement factor I",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.45",
                    "type": "synonym"
                },
                {
                    "name": "C3B/C4B inactivator",
                    "type": "synonym"
                },
                {
                    "name": "complement factor I isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement factor I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfi",
                    "type": "recommended"
                },
                {
                    "name": "Cfi",
                    "type": "synonym"
                },
                {
                    "name": "If",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61129-1",
            "evidence": [
                {
                    "id": "0050419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05156-1",
            "uniprot_ac": "P05156",
            "uniprot_id": "CFAI_HUMAN",
            "refseq_ac": "NP_001317964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement factor I",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.45",
                    "type": "synonym"
                },
                {
                    "name": "C3B/C4B inactivator",
                    "type": "synonym"
                },
                {
                    "name": "C3b-inactivator",
                    "type": "synonym"
                },
                {
                    "name": "Konglutinogen-activating factor",
                    "type": "synonym"
                },
                {
                    "name": "complement component I",
                    "type": "synonym"
                },
                {
                    "name": "complement control protein factor I",
                    "type": "synonym"
                },
                {
                    "name": "complement factor I heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "complement factor I isoform 3 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "light chain of factor I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFI",
                    "type": "recommended"
                },
                {
                    "name": "AHUS3",
                    "type": "synonym"
                },
                {
                    "name": "ARMD13",
                    "type": "synonym"
                },
                {
                    "name": "C3BINA",
                    "type": "synonym"
                },
                {
                    "name": "C3b-INA",
                    "type": "synonym"
                },
                {
                    "name": "CFI",
                    "type": "synonym"
                },
                {
                    "name": "FI",
                    "type": "synonym"
                },
                {
                    "name": "IF",
                    "type": "synonym"
                },
                {
                    "name": "KAF",
                    "type": "synonym"
                }
            ],
            "record_id": "P05156-1",
            "evidence": [
                {
                    "id": "610984",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610984"
                },
                {
                    "id": "0050419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WUW3-1",
            "uniprot_ac": "Q9WUW3",
            "uniprot_id": "CFAI_RAT",
            "refseq_ac": "NP_077071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement factor I",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.45",
                    "type": "synonym"
                },
                {
                    "name": "C3B/C4B inactivator",
                    "type": "synonym"
                },
                {
                    "name": "complement factor I precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfi",
                    "type": "recommended"
                },
                {
                    "name": "Cfi",
                    "type": "synonym"
                },
                {
                    "name": "FI",
                    "type": "synonym"
                },
                {
                    "name": "If",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUW3-1",
            "evidence": [
                {
                    "id": "0050419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050419"
}