{
    "disease_id": "DOID:0111206",
    "recommended_name": {
        "id": "DOID:0111206",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111206",
        "name": "autosomal dominant distal hereditary motor neuronopathy 2",
        "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "autosomal dominant adult spinal muscular atrophy IIA",
            "description": ""
        },
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "HMN II",
            "description": ""
        },
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "HMN IIA",
            "description": ""
        },
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "HMN2",
            "description": ""
        },
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "HMN2A",
            "description": ""
        },
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "distal hereditary motor neuropathy type II",
            "description": ""
        },
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "distal hereditary motor neuropathy type IIA",
            "description": ""
        },
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "spinal Charcot-Marie-Tooth disease IIA",
            "description": ""
        },
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "distal hereditary motor neuronopathy type 2",
            "description": ""
        },
        {
            "id": "DOID:0111206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111206",
            "name": "distal hereditary motor neuronopathy type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008025",
            "name": "neuronopathy, distal hereditary motor, type 2A",
            "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet and chronic neurogenic alterations in electromyography."
        },
        {
            "id": "MONDO:0008025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008025",
            "name": "HSPB8 neuronopathy, distal hereditary motor",
            "description": ""
        },
        {
            "id": "MONDO:0008025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008025",
            "name": "neuronopathy, distal hereditary motor caused by mutation in HSPB8",
            "description": ""
        },
        {
            "id": "MONDO:0008025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008025",
            "name": "HMN2A",
            "description": ""
        },
        {
            "id": "MONDO:0008025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008025",
            "name": "neuronopathy, distal hereditary motor, type IIA",
            "description": ""
        },
        {
            "id": "MIM:158590",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158590",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 2",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111206"
    ],
    "unlinked_id_list": []
}