{
  "id": 9350,
  "label": "neuronopathy, distal hereditary motor, type 7A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008024",
  "properties": {
    "xrefs": [
      "DOID:0111201",
      "GARD:0018269",
      "MEDGEN:322474",
      "MESH:C563562",
      "OMIM:158580",
      "UMLS:C1834703"
    ],
    "synonyms": [
      "SLC5A7 neuronopathy, distal hereditary motor",
      "neuronopathy, distal hereditary motor caused by mutation in SLC5A7",
      "Dhmn7A",
      "Dhmnvp",
      "HMN 7A",
      "HMN7A",
      "Harper-Young myopathy",
      "neuronopathy, distal hereditary motor, type VIIA",
      "neuropathy, distal hereditary motor, type 7A",
      "spinal muscular atrophy, distal, with vocal cord paralysis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16217,
      "label": "distal hereditary motor neuropathy type 7",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111199",
          "GARD:0016960",
          "MEDGEN:1662655",
          "Orphanet:139589",
          "UMLS:C4749653",
          "icd11.foundation:80361835"
        ],
        "synonyms": [
          "dHMN7",
          "distal spinal muscular atrophy with vocal cord paralysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015355"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16217,
      "label": "distal hereditary motor neuropathy type 7"
    }
  ]
}