{
    "disease_id": "DOID:0111209",
    "recommended_name": {
        "id": "DOID:0111209",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111209",
        "name": "autosomal dominant distal hereditary motor neuronopathy 4",
        "description": "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111209",
            "name": "DHMN2C",
            "description": ""
        },
        {
            "id": "DOID:0111209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111209",
            "name": "HMN IIC",
            "description": ""
        },
        {
            "id": "DOID:0111209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111209",
            "name": "HMN2C",
            "description": ""
        },
        {
            "id": "DOID:0111209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111209",
            "name": "distal hereditary motor neuropathy type IIC",
            "description": ""
        },
        {
            "id": "DOID:0111209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111209",
            "name": "distal hereditary motor neuronopathy type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0013243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013243",
            "name": "neuronopathy, distal hereditary motor, type 2C",
            "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene."
        },
        {
            "id": "MONDO:0013243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013243",
            "name": "HSPB3 neuronopathy, distal hereditary motor",
            "description": ""
        },
        {
            "id": "MONDO:0013243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013243",
            "name": "neuronopathy, distal hereditary motor caused by mutation in HSPB3",
            "description": ""
        },
        {
            "id": "MONDO:0013243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013243",
            "name": "HMN2C",
            "description": ""
        },
        {
            "id": "MONDO:0013243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013243",
            "name": "neuronopathy, distal hereditary motor, type IIC",
            "description": ""
        },
        {
            "id": "MIM:613376",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613376",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 4",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111209"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111209",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111209",
            "categories": []
        },
        {
            "id": "MONDO:0013243",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013243",
            "categories": []
        },
        {
            "id": "MIM:613376",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613376",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QZ57-1",
            "uniprot_ac": "Q9QZ57",
            "uniprot_id": "HSPB3_MOUSE",
            "refseq_ac": "NP_064344",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-3",
                    "type": "recommended"
                },
                {
                    "name": "HspB3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kD protein 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-3",
                    "type": "synonym"
                },
                {
                    "name": "small heat shock protein B3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspb3",
                    "type": "recommended"
                },
                {
                    "name": "2310035K17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hsbp3",
                    "type": "synonym"
                },
                {
                    "name": "Hspb3",
                    "type": "synonym"
                },
                {
                    "name": "spb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZ57-1",
            "evidence": [
                {
                    "id": "0111209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12988-1",
            "uniprot_ac": "Q12988",
            "uniprot_id": "HSPB3_HUMAN",
            "refseq_ac": "NP_006299",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-3",
                    "type": "recommended"
                },
                {
                    "name": "HSP 17",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family B member 3",
                    "type": "synonym"
                },
                {
                    "name": "HspB3",
                    "type": "synonym"
                },
                {
                    "name": "Protein 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 17 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kDa protein 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family B member 3",
                    "type": "synonym"
                },
                {
                    "name": "protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSPB3",
                    "type": "recommended"
                },
                {
                    "name": "DHMN2C",
                    "type": "synonym"
                },
                {
                    "name": "HMN2C",
                    "type": "synonym"
                },
                {
                    "name": "HMND4",
                    "type": "synonym"
                },
                {
                    "name": "HSP27",
                    "type": "synonym"
                },
                {
                    "name": "HSPB3",
                    "type": "synonym"
                },
                {
                    "name": "HSPL27",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12988-1",
            "evidence": [
                {
                    "id": "613376",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613376"
                },
                {
                    "id": "0111209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZ58-1",
            "uniprot_ac": "Q9QZ58",
            "uniprot_id": "HSPB3_RAT",
            "refseq_ac": "NP_113938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-3",
                    "type": "recommended"
                },
                {
                    "name": "HspB3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kD protein 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kD protein family, member 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kDa protein 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein B3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspb3",
                    "type": "recommended"
                },
                {
                    "name": "Hspb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZ58-1",
            "evidence": [
                {
                    "id": "0111209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111209"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111209"
}