{
    "disease_id": "DOID:0080960",
    "recommended_name": {
        "id": "DOID:0080960",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080960",
        "name": "amelogenesis imperfecta type 2A6",
        "description": "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0080960",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080960",
            "name": "Amelogenesis imperfecta, hypomaturation type, IIA6",
            "description": ""
        },
        {
            "id": "MONDO:0014971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014971",
            "name": "amelogenesis imperfecta, hypomaturation type, IIa6",
            "description": ""
        },
        {
            "id": "MONDO:0014971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014971",
            "name": "AI2A6",
            "description": ""
        },
        {
            "id": "MONDO:0014971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014971",
            "name": "amelogenesis imperfecta, hypomaturation type, IIa6",
            "description": ""
        },
        {
            "id": "MONDO:0014971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014971",
            "name": "amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6",
            "description": ""
        },
        {
            "id": "MIM:617217",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617217",
            "name": "Amelogenesis imperfecta, hypomaturation type, 2A6",
            "description": "Amelogenesis imperfecta, hypomaturation type, 2A6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080960"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080960",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080960",
            "categories": []
        },
        {
            "id": "MONDO:0014971",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014971",
            "categories": []
        },
        {
            "id": "MIM:617217",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617217",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BFQ3-1",
            "uniprot_ac": "Q8BFQ3",
            "uniprot_id": "GPR68_MOUSE",
            "refseq_ac": "NP_001171144",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor 68",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor 68",
                    "type": "synonym"
                },
                {
                    "name": "Ovarian cancer G protein-coupled receptor 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ovarian cancer G-protein coupled receptor 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ovarian cancer G-protein coupled receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosylphosphorylcholine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpr68",
                    "type": "recommended"
                },
                {
                    "name": "Gpr68",
                    "type": "synonym"
                },
                {
                    "name": "Ogr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BFQ3-1",
            "evidence": [
                {
                    "id": "0080960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080960"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15743-1",
            "uniprot_ac": "Q15743",
            "uniprot_id": "GPR68_HUMAN",
            "refseq_ac": "NP_001171147",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor 68",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 12A",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 12A",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 68",
                    "type": "synonym"
                },
                {
                    "name": "GPR12A",
                    "type": "synonym"
                },
                {
                    "name": "OGR-1",
                    "type": "synonym"
                },
                {
                    "name": "Ovarian cancer G protein-coupled receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "ovarian cancer G protein-coupled receptor, 1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosylphosphorylcholine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPR68",
                    "type": "recommended"
                },
                {
                    "name": "AI2A6",
                    "type": "synonym"
                },
                {
                    "name": "GPR12A",
                    "type": "synonym"
                },
                {
                    "name": "GPR68",
                    "type": "synonym"
                },
                {
                    "name": "OGR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15743-1",
            "evidence": [
                {
                    "id": "617217",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617217"
                },
                {
                    "id": "0080960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080960"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZSW1-1",
            "uniprot_ac": "D3ZSW1",
            "uniprot_id": "D3ZSW1_RAT",
            "refseq_ac": "NP_001101519",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor 68",
                    "type": "synonym"
                },
                {
                    "name": "ovarian cancer G-protein coupled receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpr68",
                    "type": "recommended"
                },
                {
                    "name": "Gpr68",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZSW1-1",
            "evidence": [
                {
                    "id": "0080960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080960"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080960"
}