{
  "id": 12319,
  "label": "hereditary thermosensitive neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011197",
  "properties": {
    "xrefs": [
      "GARD:0016731",
      "MEDGEN:355568",
      "MESH:C566575",
      "OMIM:602107",
      "Orphanet:84093",
      "SCTID:715645004",
      "UMLS:C1865856",
      "icd11.foundation:1124144144"
    ],
    "synonyms": [
      "neuropathy, hereditary thermosensitive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy."
  },
  "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"
    }
  ]
}