{
  "id": 19659,
  "label": "hereditary sensory and autonomic neuropathy type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019941",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16223,
      "label": "hereditary sensory and autonomic neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4428,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050548",
          "GARD:0012688",
          "ICD9:356.2",
          "MEDGEN:14355",
          "MESH:D009477",
          "NCIT:C125386",
          "OMIMPS:162400",
          "Orphanet:140471",
          "SCTID:11442006",
          "UMLS:C0027889",
          "icd11.foundation:1091217288"
        ],
        "synonyms": [
          "CIP",
          "HSAN",
          "congenital insensitivity to pain",
          "congenital pain insensitivity",
          "hereditary sensory and autonomic neuropathy",
          "hereditary sensory neuropathy",
          "hereditary sensory peripheral neuropathy",
          "indifference to pain, Congenital, autosomal recessive",
          "hereditary sensory autonomic neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015364"
    }
  ],
  "children": [
    {
      "id": 14178,
      "label": "neuropathy, hereditary sensory and autonomic, type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19659
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013142"
    },
    {
      "id": 14659,
      "label": "neuropathy, hereditary sensory, type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19659,
        24451
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070147",
          "GARD:0015774",
          "MEDGEN:481798",
          "OMIM:614213",
          "UMLS:C3280168"
        ],
        "synonyms": [
          "HSN2C",
          "KIF1A hereditary sensory and autonomic neuropathy type 2",
          "hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A",
          "hereditary sensory neuropathy type 2C",
          "neuropathy, hereditary sensory, type IIC"
        ],
        "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 KIF1A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013634"
    },
    {
      "id": 21342,
      "label": "neuropathy, hereditary sensory and autonomic, type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19659
      ],
      "type_id": 0,
      "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"
      },
      "child_count": 0,
      "reference_id": "MONDO:0024309"
    }
  ],
  "roots": [
    {
      "id": 16223,
      "label": "hereditary sensory and autonomic neuropathy"
    }
  ]
}