{
  "id": 21342,
  "label": "neuropathy, hereditary sensory and autonomic, type 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024309",
  "properties": {
    "xrefs": [
      "DOID:0070155",
      "GARD:0015129",
      "MEDGEN:416701",
      "OMIM:201300",
      "UMLS:C2752089"
    ],
    "synonyms": [
      "HSAN 2A",
      "HSAN2A",
      "HSN 2A",
      "neuropathy, hereditary sensory and autonomic, type II",
      "neuropathy, hereditary sensory and autonomic, type IIA",
      "neuropathy, hereditary sensory, type 2A",
      "Morvan disease",
      "acroosteolysis, Giaccai type",
      "acroosteolysis, neurogenic",
      "hereditary sensory and autonomic neuropathy type 2A",
      "neuropathy, congenital sensory",
      "neuropathy, hereditary sensory radicular, autosomal recessive",
      "neuropathy, progressive sensory, of children"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13"
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19659,
      "label": "hereditary sensory and autonomic neuropathy type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16223
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070161",
          "GARD:0003976",
          "MEDGEN:42513",
          "NORD:1235",
          "Orphanet:970",
          "PMID:21089229",
          "SCTID:398148000",
          "UMLS:C0020072"
        ],
        "synonyms": [
          "HSAN2",
          "Hereditary Sensory and Autonomic Neuropathy Type II",
          "autosomal recessive sensory radicular neuropathy",
          "hereditary sensory and autonomic neuropathy type II",
          "neurogenic acroosteolysis",
          "Giaccai type acroosteolysis",
          "hereditary sensory neuropathy type 2",
          "hereditary sensory radicular neuropathy, recessive form"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019941"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19659,
      "label": "hereditary sensory and autonomic neuropathy type 2"
    }
  ]
}