{
  "id": 9406,
  "label": "hereditary neuropathy with liability to pressure palsies",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008087",
  "properties": {
    "xrefs": [
      "DECIPHER:31",
      "DOID:0060843",
      "GARD:0005221",
      "MEDGEN:98291",
      "MESH:C536965",
      "MedDRA:10069382",
      "OMIM:162500",
      "Orphanet:640",
      "SCTID:230558006",
      "UMLS:C0393814",
      "icd11.foundation:2126843932"
    ],
    "synonyms": [
      "HNPP",
      "Tomaculous neuropathy",
      "current pressure-sensitive neuropathy",
      "hereditary liability to pressure palsies",
      "hereditary neuropathy with liability to pressure palsies",
      "heterozygous microdeletion 17p11.2p12",
      "neuropathy, recurrent, with pressure palsies",
      "potato-grubbing palsy",
      "tomaculous neuropathy",
      "tulip-bulb digger's palsy",
      "hereditary neuropathy with liability to pressure palsy",
      "neuropathy, hereditary, with liability to pressure palsies",
      "polyneuropathy, familial recurrent"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 20965,
      "label": "chromosome 17p deletion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17304
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020817",
          "MEDGEN:1842221",
          "MESH:C538045",
          "NCIT:C36499",
          "Orphanet:261965",
          "UMLS:C5679671",
          "icd11.foundation:527787991"
        ],
        "synonyms": [
          "chromosome 17p deletion",
          "partial deletion of chromosome 17p",
          "partial deletion of the short arm of chromosome 17",
          "partial monosomy of chromosome 17p",
          "partial monosomy of the short arm of chromosome 17",
          "partial monosomy of the short arm of chromosome type 17",
          "17p deletion",
          "17p monosomy",
          "17p- syndrome",
          "chromosome 17p deletion syndrome",
          "del(17p)",
          "deletion 17p",
          "deletion 17p syndrome",
          "interstitial deletion 17p",
          "loss of chromosome 17p",
          "monosomy 17p",
          "partial monosomy 17p"
        ],
        "definition": "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17."
      },
      "child_count": 4,
      "reference_id": "MONDO:0022754"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 20965,
      "label": "chromosome 17p deletion"
    }
  ]
}