{
    "disease_id": "DOID:0060865",
    "recommended_name": {
        "id": "DOID:0060865",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060865",
        "name": "patterned macular dystrophy 3",
        "description": "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060865",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060865",
            "name": "MDPT3",
            "description": ""
        },
        {
            "id": "DOID:0060865",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060865",
            "name": "Martinique crinkled retinal pigment epitheliopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "name": "patterned macular dystrophy 3",
            "description": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene."
        },
        {
            "id": "MONDO:0014920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "name": "MAPKAPK3 patterned macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "name": "MCRPE",
            "description": ""
        },
        {
            "id": "MONDO:0014920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "name": "MDPT3",
            "description": ""
        },
        {
            "id": "MONDO:0014920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "name": "Martinique crinkled retinal pigment epitheliopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "name": "macular dystrophy, patterned, 3",
            "description": ""
        },
        {
            "id": "MONDO:0014920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "name": "macular dystrophy, patterned, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "name": "patterned macular dystrophy caused by mutation in MAPKAPK3",
            "description": ""
        },
        {
            "id": "MONDO:0014920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "name": "patterned macular dystrophy type 3",
            "description": ""
        },
        {
            "id": "MIM:617111",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617111",
            "name": "Macular dystrophy, patterned, 3",
            "description": "Macular dystrophy, patterned, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060865"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060865",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060865",
            "categories": []
        },
        {
            "id": "MONDO:0014920",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014920",
            "categories": []
        },
        {
            "id": "MIM:617111",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617111",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UMW7-1",
            "uniprot_ac": "Q3UMW7",
            "uniprot_id": "MAPK3_MOUSE",
            "refseq_ac": "NP_001303620",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "MAP kinase-activated protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase-activated protein kinase 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase-activated protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPK-activated protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP-K3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK-3",
                    "type": "synonym"
                },
                {
                    "name": "MK-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mapkapk3",
                    "type": "recommended"
                },
                {
                    "name": "3PK",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP-K3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP3",
                    "type": "synonym"
                },
                {
                    "name": "MK-3",
                    "type": "synonym"
                },
                {
                    "name": "MK3",
                    "type": "synonym"
                },
                {
                    "name": "MapkKapk3",
                    "type": "synonym"
                },
                {
                    "name": "Mapkapk3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UMW7-1",
            "evidence": [
                {
                    "id": "0060865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16644-1",
            "uniprot_ac": "Q16644",
            "uniprot_id": "MAPK3_HUMAN",
            "refseq_ac": "NP_001230854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "MAP kinase-activated protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "3pK",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome 3p kinase",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase-activated protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPK-activated protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP-K3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK-3",
                    "type": "synonym"
                },
                {
                    "name": "MK-3",
                    "type": "synonym"
                },
                {
                    "name": "chromosome 3p kinase",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase-activated protein kinase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAPKAPK3",
                    "type": "recommended"
                },
                {
                    "name": "3PK",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP-K3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK-3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK3",
                    "type": "synonym"
                },
                {
                    "name": "MDPT3",
                    "type": "synonym"
                },
                {
                    "name": "MK-3",
                    "type": "synonym"
                },
                {
                    "name": "MK3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16644-1",
            "evidence": [
                {
                    "id": "617111",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617111"
                },
                {
                    "id": "0060865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66H84-1",
            "uniprot_ac": "Q66H84",
            "uniprot_id": "MAPK3_RAT",
            "refseq_ac": "NP_001012127",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MAP kinase-activated protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase-activated protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPK-activated protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP-K3",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK-3",
                    "type": "synonym"
                },
                {
                    "name": "MK-3",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase-activated protein kinase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mapkapk3",
                    "type": "recommended"
                },
                {
                    "name": "MAPKAP-K3",
                    "type": "synonym"
                },
                {
                    "name": "MK-3",
                    "type": "synonym"
                },
                {
                    "name": "Mapkapk3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66H84-1",
            "evidence": [
                {
                    "id": "0060865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49071-1",
            "uniprot_ac": "P49071",
            "uniprot_id": "MAPK2_DROME",
            "refseq_ac": "NP_001188547",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "MAP kinase-activated protein kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG3086-PE",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase activated protein kinase-2",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase activated protein-kinase-2, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase-activated protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "MAPK-activated protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK-2",
                    "type": "synonym"
                },
                {
                    "name": "MAPk-Ak2-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAPk-Ak2",
                    "type": "recommended"
                },
                {
                    "name": "CG3086",
                    "type": "synonym"
                },
                {
                    "name": "DmMAPKAPK-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3086",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3086",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAPK-2",
                    "type": "synonym"
                },
                {
                    "name": "MAPKAP",
                    "type": "synonym"
                },
                {
                    "name": "MAPk-Ak2",
                    "type": "synonym"
                },
                {
                    "name": "MK2",
                    "type": "synonym"
                },
                {
                    "name": "dMK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49071-1",
            "evidence": [
                {
                    "id": "0060865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060865"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060865"
}