{
  "id": 16217,
  "label": "distal hereditary motor neuropathy type 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015355",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    }
  ],
  "children": [
    {
      "id": 9350,
      "label": "neuronopathy, distal hereditary motor, type 7A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16217
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008024"
    },
    {
      "id": 12956,
      "label": "neuronopathy, distal hereditary motor, type 7B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16217,
        24343
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111202",
          "GARD:0018270",
          "MEDGEN:375157",
          "MESH:C564362",
          "OMIM:607641",
          "UMLS:C1843315"
        ],
        "synonyms": [
          "DCTN1 neuronopathy, distal hereditary motor",
          "neuronopathy, distal hereditary motor caused by mutation in DCTN1",
          "Dhmn7B",
          "HMN 7B",
          "HMN7B",
          "Lower motor neuron disease, dynactin type",
          "neuronopathy, distal hereditary motor, type VIIB",
          "neuropathy, distal hereditary motor, type 7B",
          "neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B"
        ],
        "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 DCTN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011879"
    }
  ],
  "roots": [
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant"
    }
  ]
}