{
    "disease_id": "DOID:0110266",
    "recommended_name": {
        "id": "DOID:0110266",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110266",
        "name": "cataract 9 multiple types",
        "description": "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110266",
            "name": "cataract 9 multiple types with or without microcornea",
            "description": ""
        },
        {
            "id": "DOID:0110266",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110266",
            "name": "CTRCT9",
            "description": ""
        },
        {
            "id": "MONDO:0011413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011413",
            "name": "cataract 9 multiple types",
            "description": "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene."
        },
        {
            "id": "MONDO:0011413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011413",
            "name": "CRYAA cataract (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011413",
            "name": "CTRCT9",
            "description": ""
        },
        {
            "id": "MONDO:0011413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011413",
            "name": "cataract (disease) caused by mutation in CRYAA",
            "description": ""
        },
        {
            "id": "MONDO:0011413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011413",
            "name": "cataract 9, multiple types",
            "description": ""
        },
        {
            "id": "MIM:604219",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604219",
            "name": "Cataract 9, multiple types",
            "description": "Cataract 9, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110266"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110266",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110266",
            "categories": []
        },
        {
            "id": "MONDO:0011413",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011413",
            "categories": []
        },
        {
            "id": "MIM:604219",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604219",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q6QU75-1",
            "uniprot_ac": "Q6QU75",
            "uniprot_id": "PITX3_DANRE",
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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": "Pituitary homeobox 3",
                    "type": "recommended"
                },
                {
                    "name": "Bicoid-like homeodomain transcription factor Pitx3",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "bicoid-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 3",
                    "type": "synonym"
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                    "name": "pitx3",
                    "type": "recommended"
                },
                {
                    "name": "pitx3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-196H17.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109716",
                    "type": "synonym"
                }
            ],
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                }
            ]
        },
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            "uniprot_canonical_ac": "P24622-1",
            "uniprot_ac": "P24622",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-crystallin A chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha-crystallin A chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin A chain",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "lens opacity 18",
                    "type": "synonym"
                }
            ],
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                    "name": "Cryaa",
                    "type": "recommended"
                },
                {
                    "name": "Acry-1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Crya1",
                    "type": "synonym"
                },
                {
                    "name": "Cryaa",
                    "type": "synonym"
                },
                {
                    "name": "DAcry-1",
                    "type": "synonym"
                },
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                    "name": "lop18",
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                }
            ]
        },
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                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "Homeobox protein PITX3",
                    "type": "synonym"
                },
                {
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                {
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                    "type": "synonym"
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                    "type": "synonym"
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            ],
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                    "name": "Pitx3",
                    "type": "recommended"
                },
                {
                    "name": "Pitx3",
                    "type": "synonym"
                },
                {
                    "name": "Ptx3",
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                    "type": "synonym"
                },
                {
                    "name": "aphakia",
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                }
            ],
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                    "id": "0110266",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02489-1",
            "uniprot_ac": "P02489",
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            "refseq_ac": "NP_000385",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-crystallin A chain",
                    "type": "recommended"
                },
                {
                    "name": "Heat shock protein beta-4",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family B member 4",
                    "type": "synonym"
                },
                {
                    "name": "HspB4",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin A chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin A chain",
                    "type": "synonym"
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                    "name": "heat shock protein beta-4",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family B member 4",
                    "type": "synonym"
                },
                {
                    "name": "human alphaA-crystallin (CRYA1)",
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                }
            ],
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                {
                    "name": "CRYAA",
                    "type": "recommended"
                },
                {
                    "name": "CRYA1",
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                },
                {
                    "name": "CRYAA",
                    "type": "synonym"
                },
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                    "name": "CTRCT9",
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            ],
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                    "id": "0110266",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110266"
                }
            ]
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Homeobox protein YHP1",
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                    "name": "Yhp1p",
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                }
            ],
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                    "name": "D9461.36",
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                    "id": "0110266",
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            ]
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                }
            ],
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                    "name": "Alpha-crystallin A chain",
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                    "name": "alpha-crystallin A chain",
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                }
            ],
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                    "name": "Cryaa",
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                {
                    "name": "Acry-1",
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                    "name": "3.4.17.1",
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                {
                    "name": "carboxypeptidase A1 (pancreatic)",
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                {
                    "name": "carboxypeptidase A1 preproprotein",
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                    "name": "148460_at",
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                    "name": "Heat shock protein 26",
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                    "name": "CG4183-PB",
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                    "name": "heat shock protein 26, isoform B",
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                    "name": "heat shock protein hsp26",
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                    "name": "26K",
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                }
            ],
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                    "name": "Dmel24.5",
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                    "name": "Dmel_CG13133",
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                    "id": "0110266",
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            ],
            "protein_names": [
                {
                    "name": "Heat shock protein 23",
                    "type": "recommended"
                },
                {
                    "name": "CG4463-PB",
                    "type": "synonym"
                },
                {
                    "name": "Hsp 23",
                    "type": "synonym"
                },
                {
                    "name": "Hsp23-PB",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 23, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "heat-shock protein 23",
                    "type": "synonym"
                },
                {
                    "name": "protein 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsp23",
                    "type": "recommended"
                },
                {
                    "name": "22",
                    "type": "synonym"
                },
                {
                    "name": "23",
                    "type": "synonym"
                },
                {
                    "name": "CG4463",
                    "type": "synonym"
                },
                {
                    "name": "DmHSP23",
                    "type": "synonym"
                },
                {
                    "name": "DmHsp23",
                    "type": "synonym"
                },
                {
                    "name": "Dmel20.6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4463",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4463",
                    "type": "synonym"
                },
                {
                    "name": "HSP23/IAP",
                    "type": "synonym"
                },
                {
                    "name": "HSP23",
                    "type": "synonym"
                },
                {
                    "name": "Hsp-23",
                    "type": "synonym"
                },
                {
                    "name": "Hsp23",
                    "type": "synonym"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "hsp 22K",
                    "type": "synonym"
                },
                {
                    "name": "hsp 23K",
                    "type": "synonym"
                },
                {
                    "name": "hsp 23",
                    "type": "synonym"
                },
                {
                    "name": "hsp-23",
                    "type": "synonym"
                },
                {
                    "name": "hsp23/22",
                    "type": "synonym"
                },
                {
                    "name": "hsp23",
                    "type": "synonym"
                },
                {
                    "name": "small hsp locus 67B",
                    "type": "synonym"
                }
            ],
            "record_id": "P02516-1",
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                {
                    "id": "0110266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22979-1",
            "uniprot_ac": "P22979",
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            "refseq_ac": "NP_523994",
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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": "Heat shock protein 67B3",
                    "type": "recommended"
                },
                {
                    "name": "CG4190-PA",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 18 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Hsp67Bc-PA",
                    "type": "synonym"
                },
                {
                    "name": "gene 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock gene 67Bc",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsp67Bc",
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                },
                {
                    "name": "CG4190",
                    "type": "synonym"
                },
                {
                    "name": "Dm-HSP67Bc",
                    "type": "synonym"
                },
                {
                    "name": "Dmel18.0",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4190",
                    "type": "synonym"
                },
                {
                    "name": "HSP67BC",
                    "type": "synonym"
                },
                {
                    "name": "HSP67Bc",
                    "type": "synonym"
                },
                {
                    "name": "HSP67",
                    "type": "synonym"
                },
                {
                    "name": "HSPB8",
                    "type": "synonym"
                },
                {
                    "name": "Hsp-G3",
                    "type": "synonym"
                },
                {
                    "name": "Hsp67BC",
                    "type": "synonym"
                },
                {
                    "name": "Hsp67Bc",
                    "type": "synonym"
                },
                {
                    "name": "HspB8",
                    "type": "synonym"
                },
                {
                    "name": "Hspg3",
                    "type": "synonym"
                },
                {
                    "name": "gene 3",
                    "type": "synonym"
                },
                {
                    "name": "gene-3",
                    "type": "synonym"
                },
                {
                    "name": "gene3",
                    "type": "synonym"
                },
                {
                    "name": "gene5",
                    "type": "synonym"
                },
                {
                    "name": "hsp67Bc",
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                },
                {
                    "name": "hsp67B",
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                },
                {
                    "name": "hsp67bc",
                    "type": "synonym"
                },
                {
                    "name": "small hsp locus 67B",
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                }
            ],
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                {
                    "id": "0110266",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82147-1",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                {
                    "name": "Protein lethal(2)essential for life",
                    "type": "recommended"
                },
                {
                    "name": "CG4533-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein Efl21",
                    "type": "synonym"
                },
                {
                    "name": "l(2)efl-PC",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) essential for life, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) essential for life",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)essential for life",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(2)efl",
                    "type": "recommended"
                },
                {
                    "name": "CG4533",
                    "type": "synonym"
                },
                {
                    "name": "CryAB",
                    "type": "synonym"
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                {
                    "name": "Cryab",
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                {
                    "name": "Dmel19.8",
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                {
                    "name": "Dmel\\CG4533",
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                {
                    "name": "Dmel_CG4533",
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                },
                {
                    "name": "L(2)EFL",
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                },
                {
                    "name": "L(2)efl",
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                },
                {
                    "name": "dCRYAB",
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                },
                {
                    "name": "dCryAB",
                    "type": "synonym"
                },
                {
                    "name": "el(2)13-1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)13-1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)59Fa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)Efl",
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                },
                {
                    "name": "l(2)efl",
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                }
            ],
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                {
                    "id": "0110266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02515-1",
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                }
            ],
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                {
                    "name": "Heat shock protein 22",
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                {
                    "name": "CG4460-PB",
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                {
                    "name": "Hsp22-PB",
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                },
                {
                    "name": "heat shock protein 22, isoform B",
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                },
                {
                    "name": "heat shock protein 22",
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                {
                    "name": "heat shock protein hsp22",
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                {
                    "name": "heat-shock protein 22",
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            ],
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                    "name": "Hsp22",
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                    "name": "22",
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                {
                    "name": "CG32041",
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                {
                    "name": "CG4460",
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                {
                    "name": "DmHsp22",
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                {
                    "name": "Dmel20.8",
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                {
                    "name": "Dmel\\CG4460",
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                {
                    "name": "EP(3)3247",
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                {
                    "name": "HSP22",
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                },
                {
                    "name": "Hsp22",
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                },
                {
                    "name": "anon-WO0118547.50",
                    "type": "synonym"
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                {
                    "name": "anon-WO0140519.138",
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                {
                    "name": "dHSP22",
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                {
                    "name": "dHsp22",
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                {
                    "name": "hsp22",
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                {
                    "name": "small hsp locus 67B",
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                }
            ],
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                    "id": "0110266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110266"
                }
            ]
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        {
            "uniprot_canonical_ac": "P05812-1",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Heat shock protein 67B1",
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                {
                    "name": "Hsp67Ba-PA",
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                    "name": "gene 1",
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                {
                    "name": "heat shock gene 67Ba",
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                {
                    "name": "heat shock protein family B (small) member 1",
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            ],
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                {
                    "name": "Hsp67Ba",
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                {
                    "name": "CG4167",
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                {
                    "name": "DROHSP1",
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                {
                    "name": "DROHSP",
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                {
                    "name": "DmHsp67",
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                {
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                {
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                {
                    "name": "HSP67BA",
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                {
                    "name": "Hsp-G1",
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                {
                    "name": "Hsp67Ba",
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                    "name": "gene 1",
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                    "name": "gene1",
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                {
                    "name": "hsp67Ba",
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                {
                    "name": "small hsp locus 67B",
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            ],
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                    "id": "0110266",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110266"
                }
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        {
            "uniprot_canonical_ac": "O18400-1",
            "uniprot_ac": "O18400",
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                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox homolog Ptx1",
                    "type": "recommended"
                },
                {
                    "name": "CG1447-PA",
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                },
                {
                    "name": "D-PTX1",
                    "type": "synonym"
                },
                {
                    "name": "Ptx1, isoform A",
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                },
                {
                    "name": "Ptx1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptx1",
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                {
                    "name": "CG1447",
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                },
                {
                    "name": "D-Ptx1",
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                },
                {
                    "name": "Dmel\\CG1447",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1447",
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                },
                {
                    "name": "Ptx1",
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                {
                    "name": "Ptx",
                    "type": "synonym"
                },
                {
                    "name": "ptx1",
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            "record_id": "O18400-1",
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                {
                    "id": "0110266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KZI7-1",
            "uniprot_ac": "Q7KZI7",
            "uniprot_id": "MARK2_HUMAN",
            "refseq_ac": "NP_001156768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase MARK2",
                    "type": "recommended"
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                {
                    "name": "2.7.11.1",
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                {
                    "name": "2.7.11.26",
                    "type": "synonym"
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                {
                    "name": "ELKL motif kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "EMK-1",
                    "type": "synonym"
                },
                {
                    "name": "MAP/microtubule affinity-regulating kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "PAR1 homolog b",
                    "type": "synonym"
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                {
                    "name": "PAR1 homolog",
                    "type": "synonym"
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                {
                    "name": "Par-1b",
                    "type": "synonym"
                },
                {
                    "name": "Par1b",
                    "type": "synonym"
                },
                {
                    "name": "Ser/Thr protein kinase PAR-1B",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase EMK",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MARK2 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MARK2",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 117",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MARK2",
                    "type": "recommended"
                },
                {
                    "name": "EMK-1",
                    "type": "synonym"
                },
                {
                    "name": "EMK1",
                    "type": "synonym"
                },
                {
                    "name": "MARK2",
                    "type": "synonym"
                },
                {
                    "name": "MRD76",
                    "type": "synonym"
                },
                {
                    "name": "PAR-1",
                    "type": "synonym"
                },
                {
                    "name": "Par-1b",
                    "type": "synonym"
                },
                {
                    "name": "Par1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KZI7-1",
            "evidence": [
                {
                    "id": "0110266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110266"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75364-1",
            "uniprot_ac": "O75364",
            "uniprot_id": "PITX3_HUMAN",
            "refseq_ac": "NP_005020",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 3",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PITX3",
                    "type": "recommended"
                },
                {
                    "name": "ASGD1",
                    "type": "synonym"
                },
                {
                    "name": "ASMD",
                    "type": "synonym"
                },
                {
                    "name": "ASOD",
                    "type": "synonym"
                },
                {
                    "name": "CTPP4",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT11",
                    "type": "synonym"
                },
                {
                    "name": "PITX3",
                    "type": "synonym"
                },
                {
                    "name": "PTX3",
                    "type": "synonym"
                }
            ],
            "record_id": "O75364-1",
            "evidence": [
                {
                    "id": "0110266",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110266"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110266"
}
