{
    "disease_id": "DOID:0080986",
    "recommended_name": {
        "id": "DOID:0080986",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080986",
        "name": "Ehlers-Danlos syndrome periodontal type 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0020684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020684",
            "name": "Ehlers-Danlos syndrome, periodontal type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020684",
            "name": "EDSPD1",
            "description": ""
        },
        {
            "id": "MIM:130080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/130080",
            "name": "Ehlers-Danlos syndrome, periodontal type, 1",
            "description": "Ehlers-Danlos syndrome, periodontal type, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080986"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080986",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080986",
            "categories": []
        },
        {
            "id": "MONDO:0020684",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020684",
            "categories": []
        },
        {
            "id": "MIM:130080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/130080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CG16-1",
            "uniprot_ac": "Q8CG16",
            "uniprot_id": "C1RA_MOUSE",
            "refseq_ac": "NP_075632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C1r-A subcomponent",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.41",
                    "type": "synonym"
                },
                {
                    "name": "Complement component 1 subcomponent r-A",
                    "type": "synonym"
                },
                {
                    "name": "complement C1r-A subcomponent precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C1r-A subcomponent",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 subcomponent r-A",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1, r-A subcomponent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1ra",
                    "type": "recommended"
                },
                {
                    "name": "C1ra",
                    "type": "synonym"
                },
                {
                    "name": "C1r",
                    "type": "synonym"
                },
                {
                    "name": "mC1rA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CG16-1",
            "evidence": [
                {
                    "id": "0080986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CFG9-1",
            "uniprot_ac": "Q8CFG9",
            "uniprot_id": "C1RB_MOUSE",
            "refseq_ac": "NP_001106827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C1r-B subcomponent",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.41",
                    "type": "synonym"
                },
                {
                    "name": "Complement component 1 subcomponent r-B",
                    "type": "synonym"
                },
                {
                    "name": "complement C1r-B subcomponent precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C1r-B subcomponent",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 subcomponent r-B",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1, r-B subcomponent",
                    "type": "synonym"
                },
                {
                    "name": "complement component C1rb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1rb",
                    "type": "recommended"
                },
                {
                    "name": "667277",
                    "type": "synonym"
                },
                {
                    "name": "C1rb",
                    "type": "synonym"
                },
                {
                    "name": "C1r",
                    "type": "synonym"
                },
                {
                    "name": "Gm8551",
                    "type": "synonym"
                },
                {
                    "name": "mC1rB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFG9-1",
            "evidence": [
                {
                    "id": "0080986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00736-1",
            "uniprot_ac": "P00736",
            "uniprot_id": "C1R_HUMAN",
            "refseq_ac": "NP_001724",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C1r subcomponent",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.41",
                    "type": "synonym"
                },
                {
                    "name": "Complement C1r subcomponent chain A",
                    "type": "synonym"
                },
                {
                    "name": "Complement C1r subcomponent chain B",
                    "type": "synonym"
                },
                {
                    "name": "Complement component 1 subcomponent r",
                    "type": "synonym"
                },
                {
                    "name": "complement C1r subcomponent isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement C1r subcomponent",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1, r subcomponent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1R",
                    "type": "recommended"
                },
                {
                    "name": "C1R",
                    "type": "synonym"
                },
                {
                    "name": "EDS8",
                    "type": "synonym"
                },
                {
                    "name": "EDSPD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P00736-1",
            "evidence": [
                {
                    "id": "130080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/130080"
                },
                {
                    "id": "0080986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080986"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080986"
}