{
    "disease_id": "DOID:0070736",
    "recommended_name": {
        "id": "DOID:0070736",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070736",
        "name": "multiple mitochondrial dysfunctions syndrome 9B",
        "description": "A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070736",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070736",
            "name": "MMDS9B",
            "description": ""
        },
        {
            "id": "MONDO:0971174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971174",
            "name": "multiple mitochondrial dysfunctions syndrome 9b",
            "description": "A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures."
        },
        {
            "id": "MIM:620887",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620887",
            "name": "Multiple mitochondrial dysfunctions syndrome 9B",
            "description": "Multiple mitochondrial dysfunctions syndrome 9B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070736"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070736",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070736",
            "categories": []
        },
        {
            "id": "MONDO:0971174",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971174",
            "categories": []
        },
        {
            "id": "MIM:620887",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620887",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P22570-1",
            "uniprot_ac": "P22570",
            "uniprot_id": "ADRO_HUMAN",
            "refseq_ac": "NP_001244941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADPH:adrenodoxin oxidoreductase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.18.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.18.1.6",
                    "type": "synonym"
                },
                {
                    "name": "AR",
                    "type": "synonym"
                },
                {
                    "name": "Adrenodoxin reductase",
                    "type": "synonym"
                },
                {
                    "name": "Ferredoxin reductase",
                    "type": "synonym"
                },
                {
                    "name": "Ferredoxin--NADP(+) reductase",
                    "type": "synonym"
                },
                {
                    "name": "NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADPH:adrenodoxin oxidoreductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "adrenodoxin reductase",
                    "type": "synonym"
                },
                {
                    "name": "adrenodoxin-NADP(+) reductase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ferredoxin--NADP(+) reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FDXR",
                    "type": "recommended"
                },
                {
                    "name": "ADR",
                    "type": "synonym"
                },
                {
                    "name": "ADXR",
                    "type": "synonym"
                },
                {
                    "name": "ANOA",
                    "type": "synonym"
                },
                {
                    "name": "FDXR",
                    "type": "synonym"
                },
                {
                    "name": "MMDS9B",
                    "type": "synonym"
                }
            ],
            "record_id": "P22570-1",
            "evidence": [
                {
                    "id": "620887",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620887"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070736"
}