{
    "disease_id": "DOID:0110247",
    "recommended_name": {
        "id": "DOID:0110247",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110247",
        "name": "cataract 36",
        "description": "A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33."
    },
    "synonyms": [
        {
            "id": "DOID:0110247",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110247",
            "name": "CATC4",
            "description": ""
        },
        {
            "id": "DOID:0110247",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110247",
            "name": "CTRCT36",
            "description": ""
        },
        {
            "id": "DOID:0110247",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110247",
            "name": "autosomal recessive congenital cataract 4",
            "description": ""
        },
        {
            "id": "MONDO:0013484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013484",
            "name": "cataract 36",
            "description": "Any cataract in which the cause of the disease is a mutation in the TDRD7 gene."
        },
        {
            "id": "MONDO:0013484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013484",
            "name": "CATC4",
            "description": ""
        },
        {
            "id": "MONDO:0013484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013484",
            "name": "CTRCT36",
            "description": ""
        },
        {
            "id": "MONDO:0013484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013484",
            "name": "TDRD7 cataract (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013484",
            "name": "cataract (disease) caused by mutation in TDRD7",
            "description": ""
        },
        {
            "id": "MONDO:0013484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013484",
            "name": "cataract 36",
            "description": ""
        },
        {
            "id": "MONDO:0013484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013484",
            "name": "cataract type 36",
            "description": ""
        },
        {
            "id": "MIM:613887",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613887",
            "name": "Cataract 36",
            "description": "Cataract 36"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110247"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110247",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110247",
            "categories": []
        },
        {
            "id": "MONDO:0013484",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013484",
            "categories": []
        },
        {
            "id": "MIM:613887",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613887",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A6NAF9-1",
            "uniprot_ac": "A6NAF9",
            "uniprot_id": "TRD7A_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tudor domain-containing protein 7A",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "tdrd7a",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-288h2.2",
                    "type": "synonym"
                },
                {
                    "name": "tdrd7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi12c12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56669",
                    "type": "synonym"
                }
            ],
            "record_id": "A6NAF9-1",
            "evidence": [
                {
                    "id": "0110247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FDW8-1",
            "uniprot_ac": "E7FDW8",
            "uniprot_id": "TRD7B_DANRE",
            "refseq_ac": "NP_001340858",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tudor domain-containing protein 7B",
                    "type": "recommended"
                },
                {
                    "name": "tudor domain-containing protein 7B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tdrd7b",
                    "type": "recommended"
                },
                {
                    "name": "sb:cb829",
                    "type": "synonym"
                },
                {
                    "name": "tdrd7b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FDW8-1",
            "evidence": [
                {
                    "id": "0110247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1H1-1",
            "uniprot_ac": "Q8K1H1",
            "uniprot_id": "TDRD7_MOUSE",
            "refseq_ac": "NP_001277404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tudor domain-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "PCTAIRE2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Trap",
                    "type": "synonym"
                },
                {
                    "name": "Tudor repeat associator with PCTAIRE-2",
                    "type": "synonym"
                },
                {
                    "name": "trap",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain-containing protein 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "tudor repeat associator with PCTAIRE 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdrd7",
                    "type": "recommended"
                },
                {
                    "name": "5730495N10Rik",
                    "type": "synonym"
                },
                {
                    "name": "PCTAIRE2BP",
                    "type": "synonym"
                },
                {
                    "name": "Pctaire2bp",
                    "type": "synonym"
                },
                {
                    "name": "Tdrd7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1H1-1",
            "evidence": [
                {
                    "id": "0110247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NHU6-1",
            "uniprot_ac": "Q8NHU6",
            "uniprot_id": "TDRD7_HUMAN",
            "refseq_ac": "NP_001289813",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tudor domain-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "PCTAIRE2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Trap",
                    "type": "synonym"
                },
                {
                    "name": "Tudor repeat associator with PCTAIRE-2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain-containing protein 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tudor repeat associator with PCTAIRE 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TDRD7",
                    "type": "recommended"
                },
                {
                    "name": "CATC4",
                    "type": "synonym"
                },
                {
                    "name": "PCTAIRE2BP",
                    "type": "synonym"
                },
                {
                    "name": "TDRD7",
                    "type": "synonym"
                },
                {
                    "name": "TRAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NHU6-1",
            "evidence": [
                {
                    "id": "613887",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613887"
                },
                {
                    "id": "0110247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1R4-1",
            "uniprot_ac": "Q9R1R4",
            "uniprot_id": "TDRD7_RAT",
            "refseq_ac": "NP_620226",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tudor domain-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "PCTAIRE2-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Trap",
                    "type": "synonym"
                },
                {
                    "name": "Tudor repeat associator with PCTAIRE-2",
                    "type": "synonym"
                },
                {
                    "name": "trap",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain-containing protein 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "tudor repeat associator with PCTAIRE-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdrd7",
                    "type": "recommended"
                },
                {
                    "name": "Pctaire2bp",
                    "type": "synonym"
                },
                {
                    "name": "Tdrd7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1R4-1",
            "evidence": [
                {
                    "id": "0110247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E910-1",
            "uniprot_ac": "Q0E910",
            "uniprot_id": "Q0E910_DROME",
            "refseq_ac": "NP_611475",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8920-PB",
                    "type": "synonym"
                },
                {
                    "name": "Tapas, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "tapas, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "tapas-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tapas",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD21403",
                    "type": "synonym"
                },
                {
                    "name": "CG8920",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8920",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8920",
                    "type": "synonym"
                },
                {
                    "name": "TDRD7",
                    "type": "synonym"
                },
                {
                    "name": "Tapas",
                    "type": "synonym"
                },
                {
                    "name": "tapas",
                    "type": "synonym"
                },
                {
                    "name": "tap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E910-1",
            "evidence": [
                {
                    "id": "0110247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110247"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110247"
}