{
    "disease_id": "DOID:0080776",
    "recommended_name": {
        "id": "DOID:0080776",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080776",
        "name": "partial androgen insensitivity syndrome",
        "description": "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action."
    },
    "synonyms": [
        {
            "id": "DOID:0080776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080776",
            "name": "Reifenstein syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "partial androgen insensitivity syndrome",
            "description": "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens."
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "PAIS",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "Reifenstein syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "Reifenstein syndrome, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity, partial, with or without breast cancer",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity, partial, with or without breast cancer, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "familial incomplete Male pseudohermaphroditism, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "pais",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "partial androgen resistance syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "pseudohermaphroditism, incomplete male, type I",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity syndrome, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen resistance syndrome, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "incomplete male pseudohermaphroditism",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "type I familial incomplete male pseudohermaphroditism",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "partial androgen insensitivity syndrome",
            "description": "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens."
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "PAIS",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "Reifenstein syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "Reifenstein syndrome, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity, partial, with or without breast cancer",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity, partial, with or without breast cancer, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "familial incomplete Male pseudohermaphroditism, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "pais",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "partial androgen resistance syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "pseudohermaphroditism, incomplete male, type I",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity syndrome, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen resistance syndrome, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "incomplete male pseudohermaphroditism",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "type I familial incomplete male pseudohermaphroditism",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "partial androgen insensitivity syndrome",
            "description": "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens."
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "PAIS",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "Reifenstein syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "Reifenstein syndrome, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity, partial, with or without breast cancer",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity, partial, with or without breast cancer, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "familial incomplete Male pseudohermaphroditism, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "pais",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "partial androgen resistance syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "pseudohermaphroditism, incomplete male, type I",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen insensitivity syndrome, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "androgen resistance syndrome, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "incomplete male pseudohermaphroditism",
            "description": ""
        },
        {
            "id": "MONDO:0010720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "name": "type I familial incomplete male pseudohermaphroditism",
            "description": ""
        },
        {
            "id": "MIM:312300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/312300",
            "name": "Androgen insensitivity, partial",
            "description": "Androgen insensitivity, partial"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080776"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080776",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080776",
            "categories": []
        },
        {
            "id": "MONDO:0010720",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010720",
            "categories": []
        },
        {
            "id": "MIM:312300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/312300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P19091-1",
            "uniprot_ac": "P19091",
            "uniprot_id": "ANDR_MOUSE",
            "refseq_ac": "NP_038504",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Androgen receptor",
                    "type": "recommended"
                },
                {
                    "name": "Dihydrotestosterone receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group C member 4",
                    "type": "synonym"
                },
                {
                    "name": "androgen receptor",
                    "type": "synonym"
                },
                {
                    "name": "dihydrotestosterone receptor",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group C member 4",
                    "type": "synonym"
                },
                {
                    "name": "testicular feminization",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ar",
                    "type": "recommended"
                },
                {
                    "name": "Ar",
                    "type": "synonym"
                },
                {
                    "name": "Nr3c4",
                    "type": "synonym"
                },
                {
                    "name": "Tfm",
                    "type": "synonym"
                }
            ],
            "record_id": "P19091-1",
            "evidence": [
                {
                    "id": "0080776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080776"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10275-1",
            "uniprot_ac": "P10275",
            "uniprot_id": "ANDR_HUMAN",
            "refseq_ac": "NP_000035",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Androgen receptor",
                    "type": "recommended"
                },
                {
                    "name": "Dihydrotestosterone receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group C member 4",
                    "type": "synonym"
                },
                {
                    "name": "androgen receptor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dihydrotestosterone receptor",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group C member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AR",
                    "type": "recommended"
                },
                {
                    "name": "AIS",
                    "type": "synonym"
                },
                {
                    "name": "AR8",
                    "type": "synonym"
                },
                {
                    "name": "AR",
                    "type": "synonym"
                },
                {
                    "name": "DHTR",
                    "type": "synonym"
                },
                {
                    "name": "HUMARA",
                    "type": "synonym"
                },
                {
                    "name": "HYSP1",
                    "type": "synonym"
                },
                {
                    "name": "KD",
                    "type": "synonym"
                },
                {
                    "name": "NR3C4",
                    "type": "synonym"
                },
                {
                    "name": "SBMA",
                    "type": "synonym"
                },
                {
                    "name": "SMAX1",
                    "type": "synonym"
                },
                {
                    "name": "TFM",
                    "type": "synonym"
                }
            ],
            "record_id": "P10275-1",
            "evidence": [
                {
                    "id": "312300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/312300"
                },
                {
                    "id": "0080776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080776"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15207-1",
            "uniprot_ac": "P15207",
            "uniprot_id": "ANDR_RAT",
            "refseq_ac": "NP_036634",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Androgen receptor",
                    "type": "recommended"
                },
                {
                    "name": "Dihydrotestosterone receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group C member 4",
                    "type": "synonym"
                },
                {
                    "name": "androgen receptor (Testicular feminization), same as Tfm",
                    "type": "synonym"
                },
                {
                    "name": "androgen receptor",
                    "type": "synonym"
                },
                {
                    "name": "dihydrotestosterone receptor",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group C member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ar",
                    "type": "recommended"
                },
                {
                    "name": "Andr",
                    "type": "synonym"
                },
                {
                    "name": "Ar",
                    "type": "synonym"
                },
                {
                    "name": "Nr3c4",
                    "type": "synonym"
                },
                {
                    "name": "Tfm",
                    "type": "synonym"
                }
            ],
            "record_id": "P15207-1",
            "evidence": [
                {
                    "id": "0080776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080776"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080776"
}
