{
  "id": 9743,
  "label": "neuronopathy, distal hereditary motor, autosomal dominant 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008451",
  "properties": {
    "xrefs": [
      "DOID:0111200",
      "GARD:0016953",
      "MEDGEN:356618",
      "MESH:C566675",
      "NCIT:C132826",
      "OMIM:182960",
      "Orphanet:139518",
      "UMLS:C1866784"
    ],
    "synonyms": [
      "Charcot-Marie-Tooth disease, spinal, I",
      "DHMN1",
      "autosomal dominant distal juvenile spinal muscular atrophy type 1",
      "dHMN1",
      "distal hereditary motor neuronopathy type I",
      "neuronopathy, distal hereditary motor, type 1",
      "Charcot-Marie-Tooth disease, spinal, 1",
      "HMN 1",
      "HMN1",
      "neuronopathy, distal hereditary motor, type I",
      "neuropathy, distal hereditary motor, type 1",
      "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        3724,
        18822
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111198",
          "GARD:0019926",
          "MEDGEN:1787720",
          "OMIMPS:182960",
          "Orphanet:140465",
          "UMLS:C5548212"
        ],
        "synonyms": [
          "autosomal dominant dHMN",
          "autosomal dominant distal hereditary motor neuropathy",
          "autosomal dominant distal spinal muscular atrophy",
          "distal hereditary motor neuropathy, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of distal hereditary motor neuropathy."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015362"
    },
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10595",
          "GARD:0006034",
          "ICD9:356.1",
          "MEDGEN:2980",
          "MESH:D002607",
          "MedDRA:10034699",
          "NANDO:1200016",
          "NANDO:2200855",
          "NCIT:C75467",
          "NORD:919",
          "OMIMPS:118220",
          "Orphanet:166",
          "UMLS:C0007959"
        ],
        "synonyms": [
          "hereditary motor and sensory neuropathy",
          "hereditary sensorimotor neuropathy",
          "CMT",
          "CMT/HMSN",
          "Charcot Marie Tooth muscular atrophy",
          "Charcot-Marie-Tooth disease",
          "Charcot-Marie-Tooth hereditary neuropathy",
          "peroneal muscular atrophy",
          "Charcot Marie Tooth disease",
          "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs."
      },
      "child_count": 24,
      "reference_id": "MONDO:0015626"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant"
    },
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease"
    }
  ]
}