{
    "disease_id": "DOID:0060161",
    "recommended_name": {
        "id": "DOID:0060161",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060161",
        "name": "Kennedy's disease",
        "description": "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor."
    },
    "synonyms": [
        {
            "id": "DOID:0060161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060161",
            "name": "Kennedy disease",
            "description": ""
        },
        {
            "id": "DOID:0060161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060161",
            "name": "SBMA",
            "description": ""
        },
        {
            "id": "DOID:0060161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060161",
            "name": "Spinobulbar Muscular Atrophy",
            "description": ""
        },
        {
            "id": "DOID:0060161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060161",
            "name": "X-Linked Bulbo-Spinal Atrophy",
            "description": ""
        },
        {
            "id": "DOID:0060161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060161",
            "name": "X-linked Spinal and Bulbar Muscular Atrophy",
            "description": ""
        },
        {
            "id": "DOID:0060161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060161",
            "name": "spinal bulbar muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "Kennedy disease",
            "description": "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting."
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "Kennedy disease",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "Kennedy's disease",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "SBMA",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "SMAX1",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "X-linked BSMA",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "X-linked bulbospinal amyotrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "X-linked bulbospinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "X-linked spinal and bulbar muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "spinal and bulbar muscular atrophy, X-linked type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "name": "spinal and bulbar muscular atrophy, X-linked 1",
            "description": ""
        },
        {
            "id": "MIM:313200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/313200",
            "name": "Spinal and bulbar muscular atrophy X-linked 1",
            "description": "Spinal and bulbar muscular atrophy X-linked 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060161"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060161",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060161",
            "categories": []
        },
        {
            "id": "MONDO:0010735",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010735",
            "categories": []
        },
        {
            "id": "MIM:313200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/313200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ARX4-1",
            "uniprot_ac": "A0A8M3ARX4",
            "uniprot_id": "A0A8M3ARX4_DANRE",
            "refseq_ac": "XP_009299466",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glial cell line-derived neurotrophic factor",
                    "type": "synonym"
                },
                {
                    "name": "glial cell line-derived neurotrophic factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gdnfb",
                    "type": "recommended"
                },
                {
                    "name": "gdnfb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ARX4-1",
            "evidence": [
                {
                    "id": "0060161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q98TU0-1",
            "uniprot_ac": "Q98TU0",
            "uniprot_id": "GDNF_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glial cell line-derived neurotrophic factor",
                    "type": "recommended"
                },
                {
                    "name": "zGDNF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gdnf",
                    "type": "recommended"
                }
            ],
            "record_id": "Q98TU0-1",
            "evidence": [
                {
                    "id": "0060161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060161"
                }
            ]
        },
        {
            "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": "0060161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48540-1",
            "uniprot_ac": "P48540",
            "uniprot_id": "GDNF_MOUSE",
            "refseq_ac": "NP_001288261",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glial cell line-derived neurotrophic factor",
                    "type": "recommended"
                },
                {
                    "name": "ATF",
                    "type": "synonym"
                },
                {
                    "name": "Astrocyte-derived trophic factor",
                    "type": "synonym"
                },
                {
                    "name": "astrocyte-derived trophic factor",
                    "type": "synonym"
                },
                {
                    "name": "glial cell line-derived neurotrophic factor isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mGDNF",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdnf",
                    "type": "recommended"
                },
                {
                    "name": "ATF",
                    "type": "synonym"
                },
                {
                    "name": "Gdnf",
                    "type": "synonym"
                }
            ],
            "record_id": "P48540-1",
            "evidence": [
                {
                    "id": "0060161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060161"
                }
            ]
        },
        {
            "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": "313200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/313200"
                },
                {
                    "id": "0060161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060161"
                }
            ]
        },
        {
            "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": "0060161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LYZ4-1",
            "uniprot_ac": "A0ABK0LYZ4",
            "uniprot_id": "A0ABK0LYZ4_RAT",
            "refseq_ac": "NP_062012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glial cell line-derived neurotrophic factor",
                    "type": "recommended"
                },
                {
                    "name": "ATF",
                    "type": "synonym"
                },
                {
                    "name": "Glial cell line derived neutrophic factor",
                    "type": "synonym"
                },
                {
                    "name": "astrocyte-derived trophic factor",
                    "type": "synonym"
                },
                {
                    "name": "glial cell line-derived neurotrophic factor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glial cell line-derived neurotrophic factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdnf",
                    "type": "recommended"
                },
                {
                    "name": "Gdnf",
                    "type": "synonym"
                },
                {
                    "name": "gndf",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LYZ4-1",
            "evidence": [
                {
                    "id": "0060161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39905-1",
            "uniprot_ac": "P39905",
            "uniprot_id": "GDNF_HUMAN",
            "refseq_ac": "NP_000505",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glial cell line-derived neurotrophic factor",
                    "type": "recommended"
                },
                {
                    "name": "ATF",
                    "type": "synonym"
                },
                {
                    "name": "Astrocyte-derived trophic factor",
                    "type": "synonym"
                },
                {
                    "name": "astrocyte-derived trophic factor",
                    "type": "synonym"
                },
                {
                    "name": "glial cell line-derived neurotrophic factor isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "glial cell line-derived neurotrophic factor",
                    "type": "synonym"
                },
                {
                    "name": "hGDNF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDNF",
                    "type": "recommended"
                },
                {
                    "name": "ATF1",
                    "type": "synonym"
                },
                {
                    "name": "ATF2",
                    "type": "synonym"
                },
                {
                    "name": "ATF",
                    "type": "synonym"
                },
                {
                    "name": "GDNF",
                    "type": "synonym"
                },
                {
                    "name": "HFB1-GDNF",
                    "type": "synonym"
                },
                {
                    "name": "HSCR3",
                    "type": "synonym"
                }
            ],
            "record_id": "P39905-1",
            "evidence": [
                {
                    "id": "0060161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060161"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060161"
}