{
  "id": 14659,
  "label": "neuropathy, hereditary sensory, type 2C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013634",
  "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."
  },
  "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"
    },
    {
      "id": 24451,
      "label": "KIF1A related neurological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "PMID:37259299"
        ],
        "synonyms": [
          "KAND",
          "KIF1A neurological disorder",
          "neurological disorder caused by mutation in KIF1A",
          "neurological disorder caused by variation in KIF1A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A"
      },
      "child_count": 3,
      "reference_id": "MONDO:0700055"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19659,
      "label": "hereditary sensory and autonomic neuropathy type 2"
    },
    {
      "id": 24451,
      "label": "KIF1A related neurological disorder"
    }
  ]
}