{
  "id": 13069,
  "label": "autosomal dominant slowed nerve conduction velocity",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011998",
  "properties": {
    "xrefs": [
      "GARD:0016962",
      "MEDGEN:330829",
      "MESH:C564269",
      "OMIM:608236",
      "Orphanet:140481",
      "SCTID:764854006",
      "UMLS:C1842357"
    ],
    "synonyms": [
      "autosomal dominant slowed nerve conduction velocity",
      "slowed nerve conduction velocity, AD",
      "SNCV",
      "slowed nerve conduction velocity, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16220,
      "label": "hereditary motor and sensory neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012685",
          "ICD10CM:G60.0",
          "MEDGEN:45066",
          "MESH:D015417",
          "NANDO:2200855",
          "Orphanet:140450",
          "SCTID:398100001",
          "UMLS:C0027888",
          "icd11.foundation:1538134578"
        ],
        "synonyms": [
          "HMSN"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)"
      },
      "child_count": 8,
      "reference_id": "MONDO:0015358"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16220,
      "label": "hereditary motor and sensory neuropathy"
    }
  ]
}