{
    "disease_id": "DOID:0051042",
    "recommended_name": {
        "id": "DOID:0051042",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051042",
        "name": "autosomal dominant distal hereditary motor neuronopathy 15",
        "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0976226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976226",
            "name": "neuronopathy, distal hereditary motor, autosomal dominant 15",
            "description": ""
        },
        {
            "id": "MIM:621094",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621094",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 15",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051042"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051042",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051042",
            "categories": []
        },
        {
            "id": "MONDO:0976226",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976226",
            "categories": []
        },
        {
            "id": "MIM:621094",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621094",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N1F2-1",
            "uniprot_ac": "A0A8M1N1F2",
            "uniprot_id": "A0A8M1N1F2_DANRE",
            "refseq_ac": "NP_001003533",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BAG family molecular chaperone regulator 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bag3",
                    "type": "recommended"
                },
                {
                    "name": "bag3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100859",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N1F2-1",
            "evidence": [
                {
                    "id": "0051042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLV1-1",
            "uniprot_ac": "Q9JLV1",
            "uniprot_id": "BAG3_MOUSE",
            "refseq_ac": "NP_038891",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BAG family molecular chaperone regulator 3",
                    "type": "recommended"
                },
                {
                    "name": "BAG family molecular chaperone regulator 3",
                    "type": "synonym"
                },
                {
                    "name": "BAG-3",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-associated athanogene 3",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-binding protein Bis",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-interacting death suppressor",
                    "type": "synonym"
                },
                {
                    "name": "bcl-2-associated athanogene 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bag3",
                    "type": "recommended"
                },
                {
                    "name": "Bag3",
                    "type": "synonym"
                },
                {
                    "name": "Bis",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-2243",
                    "type": "synonym"
                },
                {
                    "name": "mg638",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JLV1-1",
            "evidence": [
                {
                    "id": "0051042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95817-1",
            "uniprot_ac": "O95817",
            "uniprot_id": "BAG3_HUMAN",
            "refseq_ac": "NP_004272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BAG family molecular chaperone regulator 3",
                    "type": "recommended"
                },
                {
                    "name": "BAG family molecular chaperone regulator 3",
                    "type": "synonym"
                },
                {
                    "name": "BAG-3",
                    "type": "synonym"
                },
                {
                    "name": "BCL2 associated athanogene 3",
                    "type": "synonym"
                },
                {
                    "name": "BCL2-binding athanogene 3",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-associated athanogene 3",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-binding protein BIS transcript 2",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-binding protein Bis",
                    "type": "synonym"
                },
                {
                    "name": "Docking protein CAIR-1",
                    "type": "synonym"
                },
                {
                    "name": "bcl-2-binding protein Bis",
                    "type": "synonym"
                },
                {
                    "name": "docking protein CAIR-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BAG3",
                    "type": "recommended"
                },
                {
                    "name": "BAG-3",
                    "type": "synonym"
                },
                {
                    "name": "BAG3",
                    "type": "synonym"
                },
                {
                    "name": "BIS",
                    "type": "synonym"
                },
                {
                    "name": "CAIR-1",
                    "type": "synonym"
                },
                {
                    "name": "CMD1HH",
                    "type": "synonym"
                },
                {
                    "name": "CMT2JJ",
                    "type": "synonym"
                },
                {
                    "name": "HMND15",
                    "type": "synonym"
                },
                {
                    "name": "MFM6",
                    "type": "synonym"
                }
            ],
            "record_id": "O95817-1",
            "evidence": [
                {
                    "id": "621094",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621094"
                },
                {
                    "id": "0051042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JNS4-1",
            "uniprot_ac": "A8JNS4",
            "uniprot_id": "A8JNS4_DROME",
            "refseq_ac": "NP_001097600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32130-PE",
                    "type": "synonym"
                },
                {
                    "name": "Dm-Starvin",
                    "type": "synonym"
                },
                {
                    "name": "Starvin, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 00543",
                    "type": "synonym"
                },
                {
                    "name": "starvin, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "starving",
                    "type": "synonym"
                },
                {
                    "name": "starvin",
                    "type": "synonym"
                },
                {
                    "name": "stv-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stv",
                    "type": "recommended"
                },
                {
                    "name": "CG10745",
                    "type": "synonym"
                },
                {
                    "name": "CG14108",
                    "type": "synonym"
                },
                {
                    "name": "CG32130",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32130",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32130",
                    "type": "synonym"
                },
                {
                    "name": "GH04349",
                    "type": "synonym"
                },
                {
                    "name": "Stv",
                    "type": "synonym"
                },
                {
                    "name": "cg32130",
                    "type": "synonym"
                },
                {
                    "name": "dBAG3",
                    "type": "synonym"
                },
                {
                    "name": "l(3)00543",
                    "type": "synonym"
                },
                {
                    "name": "stv",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JNS4-1",
            "evidence": [
                {
                    "id": "0051042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051042"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051042"
}