{
    "disease_id": "DOID:0111437",
    "recommended_name": {
        "id": "DOID:0111437",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111437",
        "name": "optic atrophy 7",
        "description": "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111437",
            "name": "OPA7",
            "description": ""
        },
        {
            "id": "DOID:0111437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111437",
            "name": "optic atrophy 7 with or without auditory neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013069",
            "name": "autosomal recessive optic atrophy, OPA7 type",
            "description": "An optic atrophy that is caused by a mutation in the TMEM126A gene."
        },
        {
            "id": "MONDO:0013069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013069",
            "name": "TMEM126A-related optic atrophy with or without extraocular features",
            "description": ""
        },
        {
            "id": "MONDO:0013069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013069",
            "name": "OPA7",
            "description": ""
        },
        {
            "id": "MONDO:0013069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013069",
            "name": "optic atrophy 7 with or without auditory neuropathy",
            "description": ""
        },
        {
            "id": "MIM:612989",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612989",
            "name": "Optic atrophy 7 with or without auditory neuropathy",
            "description": "Optic atrophy 7 with or without auditory neuropathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111437"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111437",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111437",
            "categories": []
        },
        {
            "id": "MONDO:0013069",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013069",
            "categories": []
        },
        {
            "id": "MIM:612989",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612989",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QM83-1",
            "uniprot_ac": "A0A2R8QM83",
            "uniprot_id": "A0A2R8QM83_DANRE",
            "refseq_ac": "NP_001315361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 126A",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 126A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem126a",
                    "type": "recommended"
                },
                {
                    "name": "tmem126a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73348",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QM83-1",
            "evidence": [
                {
                    "id": "0111437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D8Y1-1",
            "uniprot_ac": "Q9D8Y1",
            "uniprot_id": "T126A_MOUSE",
            "refseq_ac": "NP_079736",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 126A",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 126A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem126a",
                    "type": "recommended"
                },
                {
                    "name": "1810020E01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tmem126a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D8Y1-1",
            "evidence": [
                {
                    "id": "0111437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H061-1",
            "uniprot_ac": "Q9H061",
            "uniprot_id": "T126A_HUMAN",
            "refseq_ac": "NP_001231664",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 126A",
                    "type": "recommended"
                },
                {
                    "name": "optic atrophy 7",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 126A isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM126A",
                    "type": "recommended"
                },
                {
                    "name": "OPA7",
                    "type": "synonym"
                },
                {
                    "name": "TMEM126A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H061-1",
            "evidence": [
                {
                    "id": "612989",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612989"
                },
                {
                    "id": "0111437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5HZA9-1",
            "uniprot_ac": "Q5HZA9",
            "uniprot_id": "T126A_RAT",
            "refseq_ac": "NP_001011557",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 126A",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 126A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem126a",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305677",
                    "type": "synonym"
                },
                {
                    "name": "Tmem126a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5HZA9-1",
            "evidence": [
                {
                    "id": "0111437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLM7-1",
            "uniprot_ac": "Q9VLM7",
            "uniprot_id": "T126_DROME",
            "refseq_ac": "NP_001260247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 126",
                    "type": "recommended"
                },
                {
                    "name": "CG13392-PB",
                    "type": "synonym"
                },
                {
                    "name": "dTMEM126B",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem126",
                    "type": "recommended"
                },
                {
                    "name": "2L11",
                    "type": "synonym"
                },
                {
                    "name": "CG13392",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13392",
                    "type": "synonym"
                },
                {
                    "name": "dTMEM126B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLM7-1",
            "evidence": [
                {
                    "id": "0111437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111437"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111437"
}