{
    "disease_id": "DOID:0111580",
    "recommended_name": {
        "id": "DOID:0111580",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111580",
        "name": "Behr syndrome",
        "description": "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "DOID:0111580",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111580",
            "name": "Abortive cerebellar ataxia (BEHRS)",
            "description": ""
        },
        {
            "id": "DOID:0111580",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111580",
            "name": "BEHRS",
            "description": ""
        },
        {
            "id": "DOID:0111580",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111580",
            "name": "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss",
            "description": ""
        },
        {
            "id": "DOID:0111580",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111580",
            "name": "optic atrophy, infantile hereditary, Behr complicated form of",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "Behr syndrome",
            "description": "A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient."
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "Behr syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "BEHRS",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss",
            "description": ""
        },
        {
            "id": "MONDO:0008858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "name": "optic atrophy, infantile hereditary, Behr complicated form of",
            "description": ""
        },
        {
            "id": "MIM:210000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210000",
            "name": "Behr syndrome",
            "description": "Behr syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111580"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111580",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111580",
            "categories": []
        },
        {
            "id": "MONDO:0008858",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008858",
            "categories": []
        },
        {
            "id": "MIM:210000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/210000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5U3A7-1",
            "uniprot_ac": "Q5U3A7",
            "uniprot_id": "OPA1_DANRE",
            "refseq_ac": "NP_001007299",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "opa1",
                    "type": "recommended"
                },
                {
                    "name": "fk62d06",
                    "type": "synonym"
                },
                {
                    "name": "opa1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb77a10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk62d06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92092",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U3A7-1",
            "evidence": [
                {
                    "id": "0111580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111580"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58281-1",
            "uniprot_ac": "P58281",
            "uniprot_id": "OPA1_MOUSE",
            "refseq_ac": "NP_001186106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Large GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "LargeG",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "large GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "largeG",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa1",
                    "type": "recommended"
                },
                {
                    "name": "1200011N24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Opa1",
                    "type": "synonym"
                },
                {
                    "name": "lilr3",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0567",
                    "type": "synonym"
                }
            ],
            "record_id": "P58281-1",
            "evidence": [
                {
                    "id": "0111580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111580"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60313-1",
            "uniprot_ac": "O60313",
            "uniprot_id": "OPA1_HUMAN",
            "refseq_ac": "NP_056375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like guanosine triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial dynamin-like GTPase",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPA1",
                    "type": "recommended"
                },
                {
                    "name": "BERHS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0567",
                    "type": "synonym"
                },
                {
                    "name": "MGM1",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14A",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14B",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS14",
                    "type": "synonym"
                },
                {
                    "name": "NPG",
                    "type": "synonym"
                },
                {
                    "name": "NTG",
                    "type": "synonym"
                },
                {
                    "name": "OPA1",
                    "type": "synonym"
                },
                {
                    "name": "largeG",
                    "type": "synonym"
                }
            ],
            "record_id": "O60313-1",
            "evidence": [
                {
                    "id": "210000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/210000"
                },
                {
                    "id": "0111580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111580"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32266-1",
            "uniprot_ac": "P32266",
            "uniprot_id": "MGM1_YEAST",
            "refseq_ac": "NP_014854",
            "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": "Dynamin-like GTPase MGM1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial division and morphology protein 17",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial genome maintenance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-related GTPase MGM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MGM1",
                    "type": "recommended"
                },
                {
                    "name": "MDM17",
                    "type": "synonym"
                },
                {
                    "name": "MGM1",
                    "type": "synonym"
                },
                {
                    "name": "MNA1",
                    "type": "synonym"
                },
                {
                    "name": "YOR50-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32266-1",
            "evidence": [
                {
                    "id": "0111580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111580"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2TA68-1",
            "uniprot_ac": "Q2TA68",
            "uniprot_id": "OPA1_RAT",
            "refseq_ac": "NP_598269",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Optic atrophy protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "RN protein",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like 120 kDa protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-like GTPase OPA1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial OPA1",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa1",
                    "type": "recommended"
                },
                {
                    "name": "Opa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2TA68-1",
            "evidence": [
                {
                    "id": "0111580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111580"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9N0-1",
            "uniprot_ac": "A1Z9N0",
            "uniprot_id": "A1Z9N0_DROME",
            "refseq_ac": "NP_725369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynamin-like GTPase OPA1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "CG8479-PA",
                    "type": "synonym"
                },
                {
                    "name": "Opa1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Opa1-like",
                    "type": "synonym"
                },
                {
                    "name": "dOpa1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila optic atrophy 1-like",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) s3475",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "optic atrophy 1, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opa1",
                    "type": "recommended"
                },
                {
                    "name": "CG8479",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8479",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8479",
                    "type": "synonym"
                },
                {
                    "name": "OPA1-like",
                    "type": "synonym"
                },
                {
                    "name": "OPA1",
                    "type": "synonym"
                },
                {
                    "name": "Opa1-like",
                    "type": "synonym"
                },
                {
                    "name": "Opa1",
                    "type": "synonym"
                },
                {
                    "name": "dOPA1",
                    "type": "synonym"
                },
                {
                    "name": "dOpa1",
                    "type": "synonym"
                },
                {
                    "name": "dOpa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s3475",
                    "type": "synonym"
                },
                {
                    "name": "opa1-like",
                    "type": "synonym"
                },
                {
                    "name": "opa1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9N0-1",
            "evidence": [
                {
                    "id": "0111580",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111580"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111580"
}