{
    "disease_id": "DOID:0060863",
    "recommended_name": {
        "id": "DOID:0060863",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060863",
        "name": "patterned macular dystrophy",
        "description": "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped."
    },
    "synonyms": [
        {
            "id": "DOID:0060863",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060863",
            "name": "patterned dystrophy of retinal pigment epithelium",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "patterned macular dystrophy 1",
            "description": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene."
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "MDPT1",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "PRPH2 patterned macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "macular dystrophy, butterfly-shaped pigmentary",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "macular dystrophy, patterned, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "patterned macular dystrophy caused by mutation in PRPH2",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "patterned macular dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "butterfly-shaped pigment dystrophy of the fovea",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "macular dystrophy, patterned, 1",
            "description": ""
        },
        {
            "id": "MIM:169150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/169150",
            "name": "Macular dystrophy, patterned, 1",
            "description": "Macular dystrophy, patterned, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060864",
            "label": "patterned macular dystrophy 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060865",
            "label": "patterned macular dystrophy 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060866",
            "label": "patterned macular dystrophy 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060865",
        "DOID:0060864",
        "DOID:0060863",
        "DOID:0060866"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060863",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060863",
            "categories": []
        },
        {
            "id": "MONDO:0008210",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "categories": []
        },
        {
            "id": "MIM:169150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/169150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A9JRB3-1",
            "uniprot_ac": "A9JRB3",
            "uniprot_id": "HTR1B_DANRE",
            "refseq_ac": "NP_001104652",
            "glycoprotein": "no",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Serine protease HTRA1B",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "High-temperature requirement A serine peptidase 1B",
                    "type": "synonym"
                },
                {
                    "name": "high-temperature requirement A serine peptidase 1B",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA1B precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "htra1b",
                    "type": "recommended"
                },
                {
                    "name": "htra1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:172061",
                    "type": "synonym"
                }
            ],
            "record_id": "A9JRB3-1",
            "evidence": [
                {
                    "id": "0060863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6GMI0-1",
            "uniprot_ac": "Q6GMI0",
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                {
                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Serine protease HTRA1A",
                    "type": "recommended"
                },
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                    "name": "3.4.21.-",
                    "type": "synonym"
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                {
                    "name": "High-temperature requirement A serine peptidase 1A",
                    "type": "synonym"
                },
                {
                    "name": "HtrA serine peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 11",
                    "type": "synonym"
                },
                {
                    "name": "high-temperature requirement A serine peptidase 1A",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 11",
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                    "type": "synonym"
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                {
                    "name": "serine protease HTRA1A",
                    "type": "synonym"
                }
            ],
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                    "name": "htra1a",
                    "type": "recommended"
                },
                {
                    "name": "htra1a",
                    "type": "synonym"
                },
                {
                    "name": "htra1",
                    "type": "synonym"
                },
                {
                    "name": "prss11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92029",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R118-1",
            "uniprot_ac": "Q9R118",
            "uniprot_id": "HTRA1_MOUSE",
            "refseq_ac": "NP_062510",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease HTRA1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "High-temperature requirement A serine peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 11",
                    "type": "synonym"
                },
                {
                    "name": "high-temperature requirement A serine peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor binding protein 5 protease",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 11 (Igf binding)",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 11",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Htra1",
                    "type": "recommended"
                },
                {
                    "name": "HTRA",
                    "type": "synonym"
                },
                {
                    "name": "Htra1",
                    "type": "synonym"
                },
                {
                    "name": "Htra",
                    "type": "synonym"
                },
                {
                    "name": "L56",
                    "type": "synonym"
                },
                {
                    "name": "Prss11",
                    "type": "synonym"
                },
                {
                    "name": "RSPP11",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15499-1",
            "uniprot_ac": "P15499",
            "uniprot_id": "PRPH2_MOUSE",
            "refseq_ac": "NP_032964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripherin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "peripherin-2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration 2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration, slow (retinitis pigmentosa 7)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prph2",
                    "type": "recommended"
                },
                {
                    "name": "AOFMD",
                    "type": "synonym"
                },
                {
                    "name": "AVMD",
                    "type": "synonym"
                },
                {
                    "name": "Nmf193",
                    "type": "synonym"
                },
                {
                    "name": "PRPH",
                    "type": "synonym"
                },
                {
                    "name": "Prph2",
                    "type": "synonym"
                },
                {
                    "name": "RP7",
                    "type": "synonym"
                },
                {
                    "name": "Rd-2",
                    "type": "synonym"
                },
                {
                    "name": "Rd2",
                    "type": "synonym"
                },
                {
                    "name": "Rds",
                    "type": "synonym"
                },
                {
                    "name": "Tspan22",
                    "type": "synonym"
                },
                {
                    "name": "rds",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23942-1",
            "uniprot_ac": "P23942",
            "uniprot_id": "PRPH2_HUMAN",
            "refseq_ac": "NP_000313",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Peripherin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin-22",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-22",
                    "type": "synonym"
                },
                {
                    "name": "choroidal dystrophy, central areolar 2",
                    "type": "synonym"
                },
                {
                    "name": "peripherin 2 (retinal degeneration, slow)",
                    "type": "synonym"
                },
                {
                    "name": "peripherin 2, homolog of mouse",
                    "type": "synonym"
                },
                {
                    "name": "peripherin, photoreceptor type",
                    "type": "synonym"
                },
                {
                    "name": "peripherin-2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal peripherin",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-22",
                    "type": "synonym"
                },
                {
                    "name": "tspan-22",
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                }
            ],
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                    "name": "PRPH2",
                    "type": "recommended"
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                    "name": "AOFMD",
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                {
                    "name": "AVMD",
                    "type": "synonym"
                },
                {
                    "name": "CACD2",
                    "type": "synonym"
                },
                {
                    "name": "DS",
                    "type": "synonym"
                },
                {
                    "name": "MDBS1",
                    "type": "synonym"
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                {
                    "name": "PRPH2",
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                },
                {
                    "name": "PRPH",
                    "type": "synonym"
                },
                {
                    "name": "RDS",
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                },
                {
                    "name": "RP7",
                    "type": "synonym"
                },
                {
                    "name": "TSPAN22",
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                {
                    "name": "rd2",
                    "type": "synonym"
                }
            ],
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                    "id": "169150",
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                    "url": "https://www.omim.org/entry/169150"
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                {
                    "id": "0060863",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53920-1",
            "uniprot_ac": "P53920",
            "uniprot_id": "NM111_YEAST",
            "refseq_ac": "NP_014276",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pro-apoptotic serine protease NMA111",
                    "type": "recommended"
                },
                {
                    "name": "111 kDa nuclear mediator of apoptosis",
                    "type": "synonym"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Nma111p",
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                    "name": "NMA111",
                    "type": "recommended"
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                    "name": "N1897",
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                    "name": "NMA111",
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                {
                    "name": "YNM3",
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                {
                    "id": "0060863",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
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        {
            "uniprot_canonical_ac": "Q9QZK5-1",
            "uniprot_ac": "Q9QZK5",
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                    "taxid": 10116,
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                }
            ],
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                    "name": "Serine protease HTRA1",
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                {
                    "name": "High-temperature requirement A serine peptidase 1",
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                    "name": "Serine protease 11",
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                {
                    "name": "high-temperature requirement A serine peptidase 1",
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                {
                    "name": "protease serine 11",
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                    "name": "protease, serine, 11 (Igf binding)",
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                    "name": "serine protease 11",
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                    "name": "serine protease HTRA1 precursor",
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                {
                    "name": "serine protease HTRA1",
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            ],
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                    "name": "Htra1",
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                {
                    "name": "Htra1",
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                {
                    "name": "Htra",
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                    "name": "Prss11",
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                    "id": "0060863",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17438-1",
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                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                    "name": "Peripherin-2",
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                {
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                {
                    "name": "peripherin-2",
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                {
                    "name": "retinal degeneration slow protein",
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                {
                    "name": "retinal degeneration, slow",
                    "type": "synonym"
                }
            ],
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                    "name": "Prph2",
                    "type": "recommended"
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                {
                    "name": "Prph2",
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                },
                {
                    "name": "RSRDS",
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                {
                    "name": "Rds",
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            ],
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                {
                    "id": "0060863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9VFJ3-1",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease HTRA2, mitochondrial",
                    "type": "recommended"
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                {
                    "name": "3.4.21.108",
                    "type": "synonym"
                },
                {
                    "name": "CG8464-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmHtrA2",
                    "type": "synonym"
                },
                {
                    "name": "HTRA2-related serine protease, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "High temperature requirement protein A2",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2-PB",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2",
                    "type": "synonym"
                },
                {
                    "name": "Omi stress-regulated endoprotease",
                    "type": "synonym"
                },
                {
                    "name": "dOmi",
                    "type": "synonym"
                },
                {
                    "name": "high temperature requirement A2",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "HtrA2",
                    "type": "recommended"
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                    "name": "CG8464",
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                {
                    "name": "DmHtrA2",
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                {
                    "name": "Dmel\\CG8464",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8464",
                    "type": "synonym"
                },
                {
                    "name": "HTRA2",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2/Omi",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2",
                    "type": "synonym"
                },
                {
                    "name": "Omi/HtrA2",
                    "type": "synonym"
                },
                {
                    "name": "Omi",
                    "type": "synonym"
                },
                {
                    "name": "dOmi",
                    "type": "synonym"
                },
                {
                    "name": "domi",
                    "type": "synonym"
                },
                {
                    "name": "htrA2/omi",
                    "type": "synonym"
                },
                {
                    "name": "htrA2",
                    "type": "synonym"
                },
                {
                    "name": "omi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFJ3-1",
            "evidence": [
                {
                    "id": "0060863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92743-1",
            "uniprot_ac": "Q92743",
            "uniprot_id": "HTRA1_HUMAN",
            "refseq_ac": "NP_002766",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease HTRA1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "High-temperature requirement A serine peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP5-protease",
                    "type": "synonym"
                },
                {
                    "name": "L56",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 11",
                    "type": "synonym"
                },
                {
                    "name": "high-temperature requirement A serine peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 11 (IGF binding)",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HTRA1",
                    "type": "recommended"
                },
                {
                    "name": "ARMD7",
                    "type": "synonym"
                },
                {
                    "name": "CADASIL2",
                    "type": "synonym"
                },
                {
                    "name": "CARASIL2",
                    "type": "synonym"
                },
                {
                    "name": "CARASIL",
                    "type": "synonym"
                },
                {
                    "name": "HTRA1",
                    "type": "synonym"
                },
                {
                    "name": "HTRA",
                    "type": "synonym"
                },
                {
                    "name": "HtrA",
                    "type": "synonym"
                },
                {
                    "name": "L56",
                    "type": "synonym"
                },
                {
                    "name": "ORF480",
                    "type": "synonym"
                },
                {
                    "name": "PRSS11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92743-1",
            "evidence": [
                {
                    "id": "0060863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060863"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060863"
}