{
    "disease_id": "DOID:0111762",
    "recommended_name": {
        "id": "DOID:0111762",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111762",
        "name": "46,XX sex reversal 3",
        "description": "A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0111762",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111762",
            "name": "SRXX3",
            "description": ""
        },
        {
            "id": "MONDO:0010442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010442",
            "name": "46,XX sex reversal 3",
            "description": ""
        },
        {
            "id": "MONDO:0010442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010442",
            "name": "46,XX Sex reversal type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010442",
            "name": "46,XX sex reversal 3",
            "description": ""
        },
        {
            "id": "MONDO:0010442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010442",
            "name": "46XX sex reversal 3, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010442",
            "name": "SRXX3",
            "description": ""
        },
        {
            "id": "MIM:300833",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300833",
            "name": "46,XX sex reversal 3",
            "description": "46,XX sex reversal 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111762"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111762",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111762",
            "categories": []
        },
        {
            "id": "MONDO:0010442",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010442",
            "categories": []
        },
        {
            "id": "MIM:300833",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300833",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P41225-1",
            "uniprot_ac": "P41225",
            "uniprot_id": "SOX3_HUMAN",
            "refseq_ac": "NP_005625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-3",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 3",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box 3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOX3",
                    "type": "recommended"
                },
                {
                    "name": "GHDX",
                    "type": "synonym"
                },
                {
                    "name": "MRGH",
                    "type": "synonym"
                },
                {
                    "name": "PHPX",
                    "type": "synonym"
                },
                {
                    "name": "PHP",
                    "type": "synonym"
                },
                {
                    "name": "SOX3",
                    "type": "synonym"
                },
                {
                    "name": "SOXB",
                    "type": "synonym"
                }
            ],
            "record_id": "P41225-1",
            "evidence": [
                {
                    "id": "300833",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300833"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111762"
}