{
    "disease_id": "DOID:0060301",
    "recommended_name": {
        "id": "DOID:0060301",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060301",
        "name": "type I complement component 8 deficiency",
        "description": "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes."
    },
    "synonyms": [
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "type I complement component 8 deficiency",
            "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene."
        },
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "C8 deficiency, type I",
            "description": ""
        },
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "C8A classic complement early component deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "classic complement early component deficiency caused by mutation in C8A",
            "description": ""
        },
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "C8 deficiency type I",
            "description": ""
        },
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "C81 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "C8D1",
            "description": ""
        },
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "complement component 8 deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "complement component 8 deficiency type I",
            "description": ""
        },
        {
            "id": "MONDO:0013422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "name": "complement component 8 deficiency, type I",
            "description": ""
        },
        {
            "id": "MIM:613790",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613790",
            "name": "Complement component 8 deficiency, 1",
            "description": "Complement component 8 deficiency, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060301"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060301",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060301",
            "categories": []
        },
        {
            "id": "MONDO:0013422",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013422",
            "categories": []
        },
        {
            "id": "MIM:613790",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613790",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K182-1",
            "uniprot_ac": "Q8K182",
            "uniprot_id": "CO8A_MOUSE",
            "refseq_ac": "NP_666260",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C8 alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "Complement component 8 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 alpha chain isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C8a",
                    "type": "recommended"
                },
                {
                    "name": "C8a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K182-1",
            "evidence": [
                {
                    "id": "0060301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07357-1",
            "uniprot_ac": "P07357",
            "uniprot_id": "CO8A_HUMAN",
            "refseq_ac": "NP_000553",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component C8 alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "Complement component 8 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 alpha chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C8A",
                    "type": "recommended"
                },
                {
                    "name": "C8A",
                    "type": "synonym"
                }
            ],
            "record_id": "P07357-1",
            "evidence": [
                {
                    "id": "613790",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613790"
                },
                {
                    "id": "0060301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZWD6-1",
            "uniprot_ac": "D3ZWD6",
            "uniprot_id": "D3ZWD6_RAT",
            "refseq_ac": "NP_001100140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C8 alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "complement component 8, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 alpha chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component C8 alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C8a",
                    "type": "recommended"
                },
                {
                    "name": "C8a",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZWD6-1",
            "evidence": [
                {
                    "id": "0060301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060301"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060301"
}