{
    "disease_id": "DOID:0111196",
    "recommended_name": {
        "id": "DOID:0111196",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111196",
        "name": "X-linked distal spinal muscular atrophy 3",
        "description": "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "ATP7A-related distal motor neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "DSMAX",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "SMAX3",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "X-linked dHMN3",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "X-linked dSMA3",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "X-linked distal hereditary motor neuropathy type 3",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "X-linked recessive distal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked distal spinal muscular atrophy type 3",
            "description": "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males."
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "ATP7A spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "ATP7A-related distal motor neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "DSMAX",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "SMAX3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked dHMN type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked dHMN3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked dSMA type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked dSMA3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked distal hereditary motor neuropathy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "spinal muscular atrophy caused by mutation in ATP7A",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "spinal muscular atrophy, distal, X-linked 3, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "spinal muscular atrophy, distal, X-linked type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "spinal muscular atrophy, distal, X-linked 3",
            "description": ""
        },
        {
            "id": "MIM:300489",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300489",
            "name": "Neuronopathy, distal hereditary motor, X-linked",
            "description": "Neuronopathy, distal hereditary motor, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111196"
    ],
    "unlinked_id_list": []
}