{
    "disease_id": "DOID:0060864",
    "recommended_name": {
        "id": "DOID:0060864",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060864",
        "name": "patterned macular dystrophy 2",
        "description": "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "DOID:0060864",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060864",
            "name": "MDPT2",
            "description": ""
        },
        {
            "id": "DOID:0060864",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060864",
            "name": "butterfly-shaped pigmentary maculary dystrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0012162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012162",
            "name": "patterned macular dystrophy 2",
            "description": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene."
        },
        {
            "id": "MONDO:0012162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012162",
            "name": "CTNNA1 patterned macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012162",
            "name": "MDPT2",
            "description": ""
        },
        {
            "id": "MONDO:0012162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012162",
            "name": "macular dystrophy, patterned, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012162",
            "name": "patterned macular dystrophy caused by mutation in CTNNA1",
            "description": ""
        },
        {
            "id": "MONDO:0012162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012162",
            "name": "patterned macular dystrophy type 2",
            "description": ""
        },
        {
            "id": "MIM:608970",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608970",
            "name": "Macular dystrophy, patterned, 2",
            "description": "Macular dystrophy, patterned, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060864"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060864",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060864",
            "categories": []
        },
        {
            "id": "MONDO:0012162",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012162",
            "categories": []
        },
        {
            "id": "MIM:608970",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608970",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9PVF8-1",
            "uniprot_ac": "Q9PVF8",
            "uniprot_id": "CTNA1_DANRE",
            "refseq_ac": "NP_571531",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha E-catenin",
                    "type": "synonym"
                },
                {
                    "name": "[a]E-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha E-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin-associated protein), alpha 1, 102kDa",
                    "type": "synonym"
                },
                {
                    "name": "catenin alpha-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ctnna1",
                    "type": "recommended"
                },
                {
                    "name": "ctnna1",
                    "type": "synonym"
                },
                {
                    "name": "ctnna",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9PVF8-1",
            "evidence": [
                {
                    "id": "0060864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26231-1",
            "uniprot_ac": "P26231",
            "uniprot_id": "CTNA1_MOUSE",
            "refseq_ac": "NP_033948",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "102 kDa cadherin-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Alpha E-catenin",
                    "type": "synonym"
                },
                {
                    "name": "CAP102",
                    "type": "synonym"
                },
                {
                    "name": "alpha E-catenin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin associated protein",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin associated protein), alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "catenin alpha-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnna1",
                    "type": "recommended"
                },
                {
                    "name": "2010010M04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Catna1",
                    "type": "synonym"
                },
                {
                    "name": "Ctnna1",
                    "type": "synonym"
                }
            ],
            "record_id": "P26231-1",
            "evidence": [
                {
                    "id": "0060864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35221-1",
            "uniprot_ac": "P35221",
            "uniprot_id": "CTNA1_HUMAN",
            "refseq_ac": "NP_001277236",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha E-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-13",
                    "type": "synonym"
                },
                {
                    "name": "alpha-E-catenin",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin-associated protein), alpha 1, 102kDa",
                    "type": "synonym"
                },
                {
                    "name": "catenin alpha-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTNNA1",
                    "type": "recommended"
                },
                {
                    "name": "CAP102",
                    "type": "synonym"
                },
                {
                    "name": "CTNNA1",
                    "type": "synonym"
                },
                {
                    "name": "MDBS2",
                    "type": "synonym"
                },
                {
                    "name": "MDPT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P35221-1",
            "evidence": [
                {
                    "id": "608970",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608970"
                },
                {
                    "id": "0060864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U302-1",
            "uniprot_ac": "Q5U302",
            "uniprot_id": "Q5U302_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnna1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q5U302-1",
            "evidence": [
                {
                    "id": "0060864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060864"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35220-1",
            "uniprot_ac": "P35220",
            "uniprot_id": "CTNA_DROME",
            "refseq_ac": "NP_524219",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin alpha",
                    "type": "recommended"
                },
                {
                    "name": "CG17947-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-alpha-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "a-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha catenin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "alpha catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Cat-PA",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Ctenin",
                    "type": "synonym"
                },
                {
                    "name": "alphaCatenin",
                    "type": "synonym"
                },
                {
                    "name": "dalphacatenin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alpha-Cat",
                    "type": "recommended"
                },
                {
                    "name": "CG17947",
                    "type": "synonym"
                },
                {
                    "name": "CT39986",
                    "type": "synonym"
                },
                {
                    "name": "D-alpha-catenin",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha-Cat",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha-cat",
                    "type": "synonym"
                },
                {
                    "name": "DalphaC",
                    "type": "synonym"
                },
                {
                    "name": "Dalphacat",
                    "type": "synonym"
                },
                {
                    "name": "Dmcatp",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17947",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17947",
                    "type": "synonym"
                },
                {
                    "name": "LD30423p",
                    "type": "synonym"
                },
                {
                    "name": "a-Cat",
                    "type": "synonym"
                },
                {
                    "name": "a-cat",
                    "type": "synonym"
                },
                {
                    "name": "alpha-CAT",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Cat",
                    "type": "synonym"
                },
                {
                    "name": "alpha-catenin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-cat",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ctn",
                    "type": "synonym"
                },
                {
                    "name": "alphaCAT",
                    "type": "synonym"
                },
                {
                    "name": "alphaCatenin",
                    "type": "synonym"
                },
                {
                    "name": "alphaCat",
                    "type": "synonym"
                },
                {
                    "name": "alphacat",
                    "type": "synonym"
                }
            ],
            "record_id": "P35220-1",
            "evidence": [
                {
                    "id": "0060864",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060864"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060864"
}