{
    "disease_id": "DOID:0111198",
    "recommended_name": {
        "id": "DOID:0111198",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111198",
        "name": "autosomal dominant distal hereditary motor neuronopathy",
        "description": "A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance."
    },
    "synonyms": [
        {
            "id": "DOID:0111198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111198",
            "name": "autosomal dominant distal hereditary motor neuropathy",
            "description": ""
        },
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            "id": "DOID:0111198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111198",
            "name": "autosomal dominant dHMN",
            "description": ""
        },
        {
            "id": "DOID:0111198",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111198",
            "name": "autosomal dominant distal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
            "name": "neuronopathy, distal hereditary motor, autosomal dominant 1",
            "description": "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration."
        },
        {
            "id": "MONDO:0008451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
            "name": "Charcot-Marie-Tooth disease, spinal, I",
            "description": ""
        },
        {
            "id": "MONDO:0008451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
            "name": "DHMN1",
            "description": ""
        },
        {
            "id": "MONDO:0008451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
            "name": "autosomal dominant distal juvenile spinal muscular atrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
            "name": "dHMN1",
            "description": ""
        },
        {
            "id": "MONDO:0008451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
            "name": "distal hereditary motor neuronopathy type I",
            "description": ""
        },
        {
            "id": "MONDO:0008451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
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            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
            "name": "HMN1",
            "description": ""
        },
        {
            "id": "MONDO:0008451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
            "name": "neuronopathy, distal hereditary motor, type I",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0051042",
            "label": "autosomal dominant distal hereditary motor neuronopathy 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081399",
            "label": "autosomal dominant distal hereditary motor neuronopathy 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081400",
            "label": "autosomal dominant distal hereditary motor neuronopathy 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081401",
            "label": "autosomal dominant distal hereditary motor neuronopathy 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111199",
            "label": "autosomal dominant distal hereditary motor neuronopathy 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111202",
            "label": "autosomal dominant distal hereditary motor neuronopathy 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111203",
            "label": "autosomal dominant distal hereditary motor neuronopathy 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111205",
            "label": "autosomal dominant distal hereditary motor neuronopathy 12",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111206",
            "label": "autosomal dominant distal hereditary motor neuronopathy 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111207",
            "label": "autosomal dominant distal hereditary motor neuronopathy 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111209",
            "label": "autosomal dominant distal hereditary motor neuronopathy 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111210",
            "label": "autosomal dominant distal hereditary motor neuronopathy 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111212",
            "label": "autosomal dominant distal hereditary motor neuronopathy 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111215",
            "label": "autosomal dominant distal hereditary motor neuronopathy 8",
            "link_status": true,
            "children": []
        }
    ],
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        "DOID:0051042",
        "DOID:0081400",
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        "DOID:0111205",
        "DOID:0111206",
        "DOID:0111207",
        "DOID:0111209",
        "DOID:0111212",
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        "DOID:0111202",
        "DOID:0111215",
        "DOID:0081399",
        "DOID:0111203"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111198",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111198",
            "categories": []
        },
        {
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            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008451",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8N7TDX3",
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                    "name": "Asparagine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
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                    "type": "synonym"
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                {
                    "name": "Asparaginyl-tRNA synthetase",
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                    "name": "asparagine--tRNA ligase, cytoplasmic isoform X1",
                    "type": "synonym"
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            ],
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                    "name": "nars1",
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                },
                {
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                }
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                    "id": "0111198",
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        },
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            "uniprot_ac": "Q8BP47",
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            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Asparagine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
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                    "type": "synonym"
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                    "name": "Asparaginyl-tRNA synthetase",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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            "uniprot_canonical_ac": "F1LPV0-1",
            "uniprot_ac": "F1LPV0",
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            "species": [
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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            ],
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                    "name": "Drosophila melanogaster",
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                    "name": "suppressor of NA9 2-8",
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                    "name": "Homo sapiens",
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                    "name": "Asparagine--tRNA ligase, cytoplasmic",
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            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111198"
}
