{
    "disease_id": "DOID:0111768",
    "recommended_name": {
        "id": "DOID:0111768",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111768",
        "name": "X-linked properdin deficiency",
        "description": "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0111768",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111768",
            "name": "CFPD",
            "description": ""
        },
        {
            "id": "DOID:0111768",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111768",
            "name": "complement factor properdin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010713",
            "name": "properdin deficiency, X-linked",
            "description": "A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease."
        },
        {
            "id": "MONDO:0010713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010713",
            "name": "properdin deficiency, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010713",
            "name": "properdin deficiency, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010713",
            "name": "CFPD",
            "description": ""
        },
        {
            "id": "MONDO:0010713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010713",
            "name": "PFD",
            "description": ""
        },
        {
            "id": "MIM:312060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/312060",
            "name": "Properdin deficiency",
            "description": "Properdin deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111768"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111768",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111768",
            "categories": []
        },
        {
            "id": "MONDO:0010713",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010713",
            "categories": []
        },
        {
            "id": "MIM:312060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/312060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NF67-1",
            "uniprot_ac": "A0A8M1NF67",
            "uniprot_id": "A0A8M1NF67_DANRE",
            "refseq_ac": "NP_001107051",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC100149189 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "complement factor properdin",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC100149189 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:ch73-237c6.1",
                    "type": "recommended"
                },
                {
                    "name": "fj21f04",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-237c6.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj21f04",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NF67-1",
            "evidence": [
                {
                    "id": "0111768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0S697-1",
            "uniprot_ac": "B0S697",
            "uniprot_id": "B0S697_DANRE",
            "refseq_ac": "NP_001153598",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Properdin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Properdin precursor",
                    "type": "synonym"
                },
                {
                    "name": "properdin precursor",
                    "type": "synonym"
                },
                {
                    "name": "zfp",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfp",
                    "type": "recommended"
                },
                {
                    "name": "cfp",
                    "type": "synonym"
                },
                {
                    "name": "ch:af064832",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-22b2.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj10b08",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S697-1",
            "evidence": [
                {
                    "id": "0111768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11680-1",
            "uniprot_ac": "P11680",
            "uniprot_id": "PROP_MOUSE",
            "refseq_ac": "NP_032849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Properdin",
                    "type": "recommended"
                },
                {
                    "name": "Complement factor P",
                    "type": "synonym"
                },
                {
                    "name": "complement factor P",
                    "type": "synonym"
                },
                {
                    "name": "properdin factor, complement",
                    "type": "synonym"
                },
                {
                    "name": "properdin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfp",
                    "type": "recommended"
                },
                {
                    "name": "BCFG",
                    "type": "synonym"
                },
                {
                    "name": "Cfp",
                    "type": "synonym"
                },
                {
                    "name": "Pfc",
                    "type": "synonym"
                }
            ],
            "record_id": "P11680-1",
            "evidence": [
                {
                    "id": "0111768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27918-1",
            "uniprot_ac": "P27918",
            "uniprot_id": "PROP_HUMAN",
            "refseq_ac": "NP_001138724",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Properdin",
                    "type": "recommended"
                },
                {
                    "name": "Complement factor P",
                    "type": "synonym"
                },
                {
                    "name": "complement factor P",
                    "type": "synonym"
                },
                {
                    "name": "properdin P factor, complement",
                    "type": "synonym"
                },
                {
                    "name": "properdin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFP",
                    "type": "recommended"
                },
                {
                    "name": "BFD",
                    "type": "synonym"
                },
                {
                    "name": "CFP",
                    "type": "synonym"
                },
                {
                    "name": "PFC",
                    "type": "synonym"
                },
                {
                    "name": "PFD",
                    "type": "synonym"
                },
                {
                    "name": "PROPERDIN",
                    "type": "synonym"
                }
            ],
            "record_id": "P27918-1",
            "evidence": [
                {
                    "id": "312060",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/312060"
                },
                {
                    "id": "0111768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111768"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABZ3NNK5-1",
            "uniprot_ac": "A0ABZ3NNK5",
            "uniprot_id": "A0ABZ3NNK5_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": "Complement factor properdin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfp",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABZ3NNK5-1",
            "evidence": [
                {
                    "id": "0111768",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111768"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111768"
}