{
    "disease_id": "DOID:0111526",
    "recommended_name": {
        "id": "DOID:0111526",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111526",
        "name": "Mullerian aplasia and hyperandrogenism",
        "description": "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111526",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111526",
            "name": "Mullerian duct failure and hyperandrogenism",
            "description": ""
        },
        {
            "id": "DOID:0111526",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111526",
            "name": "WNT4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "mullerian aplasia and hyperandrogenism",
            "description": "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina."
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "Mullerian duct failure and hyperandrogenism",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "Mllerian duct failure and hyperandrogenism",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "WNT4 Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "WNT4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "mullerian aplasia and hyperandrogenism",
            "description": ""
        },
        {
            "id": "MIM:158330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158330",
            "name": "Mullerian aplasia and hyperandrogenism",
            "description": "Mullerian aplasia and hyperandrogenism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111526"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111526",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111526",
            "categories": []
        },
        {
            "id": "MONDO:0008019",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "categories": []
        },
        {
            "id": "MIM:158330",
            "database": "MIM",
            "url": "https://www.omim.org/entry/158330",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P855-1",
            "uniprot_ac": "A0A8M1P855",
            "uniprot_id": "A0A8M1P855_DANRE",
            "refseq_ac": "NP_571575",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt",
                    "type": "recommended"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 4b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wnt4b",
                    "type": "recommended"
                },
                {
                    "name": "wnt4b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P855-1",
            "evidence": [
                {
                    "id": "0111526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47793-1",
            "uniprot_ac": "P47793",
            "uniprot_id": "WNT4A_DANRE",
            "refseq_ac": "NP_001035477",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-4a",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-4a precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-4a",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 4a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wnt4a",
                    "type": "recommended"
                },
                {
                    "name": "wnt4",
                    "type": "recommended"
                },
                {
                    "name": "wnt-4",
                    "type": "synonym"
                },
                {
                    "name": "wnt4a",
                    "type": "synonym"
                },
                {
                    "name": "wnt4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136737",
                    "type": "synonym"
                }
            ],
            "record_id": "P47793-1",
            "evidence": [
                {
                    "id": "0111526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22724-1",
            "uniprot_ac": "P22724",
            "uniprot_id": "WNT4_MOUSE",
            "refseq_ac": "NP_033549",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-4",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-4",
                    "type": "synonym"
                },
                {
                    "name": "signal molecule",
                    "type": "synonym"
                },
                {
                    "name": "wingless-related MMTV integration site 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt4",
                    "type": "recommended"
                },
                {
                    "name": "Wnt-4",
                    "type": "synonym"
                },
                {
                    "name": "Wnt4",
                    "type": "synonym"
                }
            ],
            "record_id": "P22724-1",
            "evidence": [
                {
                    "id": "0111526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56705-1",
            "uniprot_ac": "P56705",
            "uniprot_id": "WNT4_HUMAN",
            "refseq_ac": "NP_110388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-4",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-4",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WNT4",
                    "type": "recommended"
                },
                {
                    "name": "PRO864",
                    "type": "synonym"
                },
                {
                    "name": "SERKAL",
                    "type": "synonym"
                },
                {
                    "name": "WNT-4",
                    "type": "synonym"
                },
                {
                    "name": "WNT4",
                    "type": "synonym"
                }
            ],
            "record_id": "P56705-1",
            "evidence": [
                {
                    "id": "158330",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/158330"
                },
                {
                    "id": "0111526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QXQ5-1",
            "uniprot_ac": "Q9QXQ5",
            "uniprot_id": "WNT4_RAT",
            "refseq_ac": "NP_445854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-4",
                    "type": "recommended"
                },
                {
                    "name": "protein Wnt-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein Wnt-4",
                    "type": "synonym"
                },
                {
                    "name": "wingless-related MMTV integration site 4",
                    "type": "synonym"
                },
                {
                    "name": "wingless-type MMTV integration site family, member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt4",
                    "type": "recommended"
                },
                {
                    "name": "Wnt-4",
                    "type": "synonym"
                },
                {
                    "name": "Wnt4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXQ5-1",
            "evidence": [
                {
                    "id": "0111526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28465-1",
            "uniprot_ac": "P28465",
            "uniprot_id": "WNT2_DROME",
            "refseq_ac": "NP_476810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Wnt-2",
                    "type": "recommended"
                },
                {
                    "name": "CG1916-PA",
                    "type": "synonym"
                },
                {
                    "name": "Wnt oncogene analog 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Wnt2-PA",
                    "type": "synonym"
                },
                {
                    "name": "dWnt-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wnt2",
                    "type": "recommended"
                },
                {
                    "name": "CG1916",
                    "type": "synonym"
                },
                {
                    "name": "D-wnt-2",
                    "type": "synonym"
                },
                {
                    "name": "DWnt-2",
                    "type": "synonym"
                },
                {
                    "name": "DWnt2",
                    "type": "synonym"
                },
                {
                    "name": "Dm DWnt2",
                    "type": "synonym"
                },
                {
                    "name": "Dm-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1916",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1916",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt-2",
                    "type": "synonym"
                },
                {
                    "name": "Dwnt2",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-2",
                    "type": "synonym"
                },
                {
                    "name": "Wnt2",
                    "type": "synonym"
                },
                {
                    "name": "Wnt",
                    "type": "synonym"
                },
                {
                    "name": "dWnt2",
                    "type": "synonym"
                },
                {
                    "name": "wnt-2",
                    "type": "synonym"
                },
                {
                    "name": "wnt2",
                    "type": "synonym"
                }
            ],
            "record_id": "P28465-1",
            "evidence": [
                {
                    "id": "0111526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111526"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111526"
}