{
  "id": 9405,
  "label": "neuropathy, hereditary sensory and autonomic, type 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008086",
  "properties": {
    "xrefs": [
      "DOID:0070152",
      "GARD:0015095",
      "MEDGEN:1716450",
      "OMIM:162400",
      "UMLS:C5235211"
    ],
    "synonyms": [
      "HSAN1A",
      "SPTLC1 hereditary sensory and autonomic neuropathy type 1",
      "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1",
      "HSAN 1A",
      "HSN 1A",
      "hereditary sensory and autonomic neuropathy type 1A",
      "neuropathy, hereditary sensory and autonomic, type IA",
      "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A",
      "neuropathy, hereditary sensory, type 1A"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1."
  },
  "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"
    }
  ]
}