{
    "disease_id": "DOID:0111771",
    "recommended_name": {
        "id": "DOID:0111771",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111771",
        "name": "46,XY sex reversal 4",
        "description": "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p."
    },
    "synonyms": [
        {
            "id": "DOID:0111771",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111771",
            "name": "SRXY4",
            "description": ""
        },
        {
            "id": "DOID:0111771",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111771",
            "name": "chromosome 9p24.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111771",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111771",
            "name": "46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0007938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007938",
            "name": "46,XY sex reversal 4",
            "description": "Sex reversal in an individual associated with a 9p24.3 deletion."
        },
        {
            "id": "MONDO:0007938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007938",
            "name": "46,XY Sex reversal type 4",
            "description": ""
        },
        {
            "id": "MONDO:0007938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007938",
            "name": "46,XY sex reversal 4",
            "description": ""
        },
        {
            "id": "MONDO:0007938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007938",
            "name": "46XY sex reversal 4, Isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0007938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007938",
            "name": "SRXY4",
            "description": ""
        },
        {
            "id": "MIM:154230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/154230",
            "name": "46,XY sex reversal 4",
            "description": "46,XY sex reversal 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111771"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111771",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111771",
            "categories": []
        },
        {
            "id": "MONDO:0007938",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007938",
            "categories": []
        },
        {
            "id": "MIM:154230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/154230",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y5R6-1",
            "uniprot_ac": "Q9Y5R6",
            "uniprot_id": "DMRT1_HUMAN",
            "refseq_ac": "NP_068770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Doublesex- and mab-3-related transcription factor 1",
                    "type": "recommended"
                },
                {
                    "name": "DM domain expressed in testis 1",
                    "type": "synonym"
                },
                {
                    "name": "DM domain expressed in testis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "doublesex- and mab-3-related transcription factor 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMRT1",
                    "type": "recommended"
                },
                {
                    "name": "CT154",
                    "type": "synonym"
                },
                {
                    "name": "DMRT1",
                    "type": "synonym"
                },
                {
                    "name": "DMT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5R6-1",
            "evidence": [
                {
                    "id": "154230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/154230"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111771"
}