{
    "disease_id": "DOID:0111215",
    "recommended_name": {
        "id": "DOID:0111215",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111215",
        "name": "distal hereditary motor neuronopathy type 8",
        "description": "A autosomal dominant distal hereditary motor neuronopathy characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in TRPV4 on 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111215",
            "name": "congenital benign spinal muscular atrophy with contractures",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111215",
            "name": "DHMN8",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111215",
            "name": "HMN8",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111215",
            "name": "autosomal dominant benign distal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111215",
            "name": "congenital nonprogressive spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111215",
            "name": "distal hereditary motor neuropathy type VIII",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111215",
            "name": "autosomal dominant congenital benign spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "autosomal dominant congenital benign spinal muscular atrophy",
            "description": "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated."
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "autosomal dominant benign distal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "neuronopathy, distal hereditary motor, type VIII",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "spinal muscular atrophy, distal, congenital nonprogressive",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "congenital nonprogressive spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "spinal muscular atrophy, congenital benign, with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "HMN8",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "congenital benign spinal muscular atrophy with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "neuronopathy, distal hereditary motor, type VIII; HMN8",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "neuronopathy, distal hereditary motor, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "neuropathy, distal hereditary motor, type 8",
            "description": ""
        },
        {
            "id": "MIM:600175",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600175",
            "name": "Neuronopathy, distal hereditary motor, 8",
            "description": "Neuronopathy, distal hereditary motor, 8"
        }
    ]
}