{
    "disease_id": "DOID:0110331",
    "recommended_name": {
        "id": "DOID:0110331",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110331",
        "name": "Leber congenital amaurosis 3",
        "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110331",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110331",
            "name": "LCA3",
            "description": ""
        },
        {
            "id": "MONDO:0011415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "name": "Leber congenital amaurosis 3",
            "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene."
        },
        {
            "id": "MONDO:0011415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "name": "LCA3",
            "description": ""
        },
        {
            "id": "MONDO:0011415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "name": "Leber congenital amaurosis 3",
            "description": ""
        },
        {
            "id": "MONDO:0011415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "name": "Leber congenital amaurosis caused by mutation in SPATA7",
            "description": ""
        },
        {
            "id": "MONDO:0011415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "name": "Leber congenital amaurosis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "name": "SPATA7 Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0011415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "name": "retinitis pigmentosa, juvenile, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "name": "amaurosis congenita of Leber, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "name": "retinitis pigmentosa, juvenile, Spata7-related",
            "description": ""
        },
        {
            "id": "MIM:604232",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604232",
            "name": "Leber congenital amaurosis 3",
            "description": "Leber congenital amaurosis 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110331"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110331",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110331",
            "categories": []
        },
        {
            "id": "MONDO:0011415",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011415",
            "categories": []
        },
        {
            "id": "MIM:604232",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604232",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QIV7-1",
            "uniprot_ac": "F1QIV7",
            "uniprot_id": "F1QIV7_DANRE",
            "refseq_ac": "XP_003200342",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis-associated 7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Spermatogenesis-associated protein 7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-associated protein 7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spata7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "spata7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0A3-1",
            "uniprot_ac": "Q9R0A3",
            "uniprot_id": "SPAT7_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": "Spermatogenesis-associated protein 7 homolog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Fertility-related protein WMP1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RSD-3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rat sperm DNA no.3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spata7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Rsd3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P0W8-1",
            "uniprot_ac": "Q9P0W8",
            "uniprot_id": "SPAT7_HUMAN",
            "refseq_ac": "NP_001035518",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis-associated protein 7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "HSD-3.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Spermatogenesis-associated protein HSD3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 296",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-associated protein 7 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-associated protein HSD3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPATA7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-296",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "HSD-3.1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "HSD3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "HSD3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LCA3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RP94",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SPATA7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110331"
                },
                {
                    "id": "604232",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80VP2-1",
            "uniprot_ac": "Q80VP2",
            "uniprot_id": "SPAT7_MOUSE",
            "refseq_ac": "NP_849245",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis-associated protein 7 homolog",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "spermatogenesis-associated protein 7 homolog isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-associated protein 7 homolog",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spata7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "B230306G18Rik",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "HSD3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Spata7",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110331"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110331"
}