{
  "id": 14178,
  "label": "neuropathy, hereditary sensory and autonomic, type 2B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013142",
  "properties": {
    "xrefs": [
      "DOID:0070150",
      "GARD:0015618",
      "MEDGEN:413474",
      "OMIM:613115",
      "UMLS:C2751092"
    ],
    "synonyms": [
      "HSAN2B",
      "RETREG1 hereditary sensory and autonomic neuropathy type 2",
      "hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1",
      "neuropathy, hereditary sensory and autonomic, type 2B",
      "hereditary sensory and autonomic neuropathy type 2B",
      "neuropathy, hereditary sensory and autonomic, type IIB"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene."
  },
  "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"
    }
  ]
}