{
    "disease_id": "DOID:0050791",
    "recommended_name": {
        "id": "DOID:0050791",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050791",
        "name": "persistent Mullerian duct syndrome",
        "description": "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male."
    },
    "synonyms": [
        {
            "id": "DOID:0050791",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050791",
            "name": "persistent Muellerian duct syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "persistent Mullerian duct syndrome",
            "description": "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Mllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys."
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "PMDS",
            "description": ""
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "persistent Mullerian derivatives",
            "description": ""
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "persistent Mullerian duct syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "persistent Mllerian derivatives",
            "description": ""
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "persistent mullerian duct syndrome, type I",
            "description": ""
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "persistent mullerian duct syndrome, type II",
            "description": ""
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "female genital ducts in otherwise normal male",
            "description": ""
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "persistent MULLERIAN duct syndrome, types I and II",
            "description": ""
        },
        {
            "id": "MONDO:0009857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "name": "persistent mullerian duct syndrome, types 1 and 2",
            "description": ""
        },
        {
            "id": "MIM:261550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/261550",
            "name": "Persistent Muellerian duct syndrome 1",
            "description": "Persistent Muellerian duct syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050791"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050791",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050791",
            "categories": []
        },
        {
            "id": "MONDO:0009857",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009857",
            "categories": []
        },
        {
            "id": "MIM:261550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/261550",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K592-1",
            "uniprot_ac": "Q8K592",
            "uniprot_id": "AMHR2_MOUSE",
            "refseq_ac": "NP_653130",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anti-Muellerian hormone type-2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "AMH type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "Anti-Muellerian hormone type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "MIS type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "MISRII",
                    "type": "synonym"
                },
                {
                    "name": "MRII",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone type-2 receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone type-2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Mullerian hormone type 2 receptor delta 2",
                    "type": "synonym"
                },
                {
                    "name": "anti-Mullerian hormone type 2 receptor delta 9/10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amhr2",
                    "type": "recommended"
                },
                {
                    "name": "Amhr2",
                    "type": "synonym"
                },
                {
                    "name": "C14",
                    "type": "synonym"
                },
                {
                    "name": "Misiir",
                    "type": "synonym"
                },
                {
                    "name": "Misrii",
                    "type": "synonym"
                },
                {
                    "name": "Mrii",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K592-1",
            "evidence": [
                {
                    "id": "0050791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050791"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27106-1",
            "uniprot_ac": "P27106",
            "uniprot_id": "AMH_MOUSE",
            "refseq_ac": "NP_031471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anti-Muellerian hormone",
                    "type": "recommended"
                },
                {
                    "name": "AMH",
                    "type": "synonym"
                },
                {
                    "name": "MIS",
                    "type": "synonym"
                },
                {
                    "name": "Muellerian-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "Muellerian-inhibiting substance",
                    "type": "synonym"
                },
                {
                    "name": "Mullerian inhibiting substance",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone precursor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone",
                    "type": "synonym"
                },
                {
                    "name": "muellerian-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "muellerian-inhibiting substance",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amh",
                    "type": "recommended"
                },
                {
                    "name": "Amh",
                    "type": "synonym"
                },
                {
                    "name": "MIS",
                    "type": "synonym"
                }
            ],
            "record_id": "P27106-1",
            "evidence": [
                {
                    "id": "0050791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050791"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P03971-1",
            "uniprot_ac": "P03971",
            "uniprot_id": "AMH_HUMAN",
            "refseq_ac": "NP_000470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anti-Muellerian hormone",
                    "type": "recommended"
                },
                {
                    "name": "AMH",
                    "type": "synonym"
                },
                {
                    "name": "MIS",
                    "type": "synonym"
                },
                {
                    "name": "Muellerian-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "Muellerian-inhibiting substance",
                    "type": "synonym"
                },
                {
                    "name": "Mullerian inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "Mullerian inhibiting substance",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone",
                    "type": "synonym"
                },
                {
                    "name": "muellerian-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "muellerian-inhibiting substance",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMH",
                    "type": "recommended"
                },
                {
                    "name": "AMH",
                    "type": "synonym"
                },
                {
                    "name": "MIF",
                    "type": "synonym"
                },
                {
                    "name": "MIS",
                    "type": "synonym"
                }
            ],
            "record_id": "P03971-1",
            "evidence": [
                {
                    "id": "261550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/261550"
                },
                {
                    "id": "0050791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050791"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16671-1",
            "uniprot_ac": "Q16671",
            "uniprot_id": "AMHR2_HUMAN",
            "refseq_ac": "NP_001158162",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anti-Muellerian hormone type-2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "AMH type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "Anti-Muellerian hormone type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "MIS type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "MISRII",
                    "type": "synonym"
                },
                {
                    "name": "MRII",
                    "type": "synonym"
                },
                {
                    "name": "Muellerian inhibiting substance type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "Mullerian inhibiting substance type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone type-2 receptor isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Mullerian hormone receptor, type II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMHR2",
                    "type": "recommended"
                },
                {
                    "name": "AMHR2",
                    "type": "synonym"
                },
                {
                    "name": "AMHR",
                    "type": "synonym"
                },
                {
                    "name": "MISR2",
                    "type": "synonym"
                },
                {
                    "name": "MISRII",
                    "type": "synonym"
                },
                {
                    "name": "MRII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16671-1",
            "evidence": [
                {
                    "id": "261550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/261550"
                },
                {
                    "id": "0050791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050791"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49000-1",
            "uniprot_ac": "P49000",
            "uniprot_id": "AMH_RAT",
            "refseq_ac": "NP_037034",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anti-Muellerian hormone",
                    "type": "recommended"
                },
                {
                    "name": "AMH",
                    "type": "synonym"
                },
                {
                    "name": "Anti - Mullerian hormone (Mulerian inhibiting substance)",
                    "type": "synonym"
                },
                {
                    "name": "MIS",
                    "type": "synonym"
                },
                {
                    "name": "Muellerian-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "Muellerian-inhibiting substance",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone precursor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone",
                    "type": "synonym"
                },
                {
                    "name": "muellerian-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "muellerian-inhibiting substance",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amh",
                    "type": "recommended"
                },
                {
                    "name": "Amh",
                    "type": "synonym"
                },
                {
                    "name": "MIS",
                    "type": "synonym"
                }
            ],
            "record_id": "P49000-1",
            "evidence": [
                {
                    "id": "0050791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050791"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62893-1",
            "uniprot_ac": "Q62893",
            "uniprot_id": "AMHR2_RAT",
            "refseq_ac": "NP_112260",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anti-Muellerian hormone type-2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "AMH type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "Anti-Muellerian hormone type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "C14",
                    "type": "synonym"
                },
                {
                    "name": "MIS type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "MISRII",
                    "type": "synonym"
                },
                {
                    "name": "MRII",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone type-2 receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Muellerian hormone type-2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "anti-Mullerian hormone receptor type 11 SV1",
                    "type": "synonym"
                },
                {
                    "name": "anti-Mullerian hormone receptor, type II",
                    "type": "synonym"
                },
                {
                    "name": "anti-Mullerian hormone type 2 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amhr2",
                    "type": "recommended"
                },
                {
                    "name": "Amhr2",
                    "type": "synonym"
                },
                {
                    "name": "C14",
                    "type": "synonym"
                },
                {
                    "name": "MISRII",
                    "type": "synonym"
                },
                {
                    "name": "MRII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62893-1",
            "evidence": [
                {
                    "id": "0050791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050791"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PE88-1",
            "uniprot_ac": "M9PE88",
            "uniprot_id": "M9PE88_DROME",
            "refseq_ac": "NP_001261395",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein serine/threonine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "CG10776-PB",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine kinase-D",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "wishful thinking, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "wishful thinking",
                    "type": "synonym"
                },
                {
                    "name": "wit-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wit",
                    "type": "recommended"
                },
                {
                    "name": "1262/15",
                    "type": "synonym"
                },
                {
                    "name": "15",
                    "type": "synonym"
                },
                {
                    "name": "ALK3/BMPRII",
                    "type": "synonym"
                },
                {
                    "name": "BMPRII",
                    "type": "synonym"
                },
                {
                    "name": "BMP",
                    "type": "synonym"
                },
                {
                    "name": "CG10776",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10776",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10776",
                    "type": "synonym"
                },
                {
                    "name": "SE20",
                    "type": "synonym"
                },
                {
                    "name": "STK-D",
                    "type": "synonym"
                },
                {
                    "name": "Stk-D",
                    "type": "synonym"
                },
                {
                    "name": "WIT",
                    "type": "synonym"
                },
                {
                    "name": "Wit-C",
                    "type": "synonym"
                },
                {
                    "name": "Wit",
                    "type": "synonym"
                },
                {
                    "name": "l(3)64Aa",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S126215",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SH12",
                    "type": "synonym"
                },
                {
                    "name": "wit",
                    "type": "synonym"
                },
                {
                    "name": "wiw",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PE88-1",
            "evidence": [
                {
                    "id": "0050791",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050791"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050791"
}