{
  "id": 14372,
  "label": "neuropathy, hereditary sensory and autonomic, type 1C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013337",
  "properties": {
    "xrefs": [
      "DOID:0070157",
      "GARD:0015683",
      "MEDGEN:462246",
      "OMIM:613640",
      "UMLS:C3150896"
    ],
    "synonyms": [
      "HSAN1C",
      "HSAN 1C",
      "HSN 1C",
      "hereditary sensory and autonomic neuropathy type 1C",
      "neuropathy, hereditary sensory and autonomic, type IC",
      "neuropathy, hereditary sensory, type 1C"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18346,
      "label": "hereditary sensory and autonomic neuropathy type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16223,
        18270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070162",
          "GARD:0006635",
          "MEDGEN:5645",
          "NORD:1237",
          "Orphanet:36386",
          "PMID:18348718",
          "SCTID:397734008",
          "UMLS:C0020071",
          "icd11.foundation:1989773046"
        ],
        "synonyms": [
          "HSAN1",
          "Hereditary Sensory Neuropathy Type I",
          "hereditary sensory and autonomic neuropathy type I",
          "HSAN 1",
          "HSN1",
          "hereditary sensory neuropathy type 1",
          "neuropathy hereditary sensory and autonomic type 1",
          "neuropathy hereditary sensory radicular, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018213"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18346,
      "label": "hereditary sensory and autonomic neuropathy type 1"
    }
  ]
}