{
  "id": 13347,
  "label": "CEDNIK syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012290",
  "properties": {
    "xrefs": [
      "DOID:0060337",
      "GARD:0009940",
      "MEDGEN:332113",
      "MESH:C537943",
      "OMIM:609528",
      "Orphanet:66631",
      "SCTID:722385008",
      "UMLS:C1836033"
    ],
    "synonyms": [
      "CEDNIK syndrome",
      "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome",
      "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19132
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021289",
          "HP:0007435",
          "ICD9:757.39",
          "MEDGEN:7201",
          "Orphanet:307141",
          "SCTID:400123002",
          "UMLS:C0022584",
          "icd11.foundation:1259583500"
        ],
        "synonyms": [
          "diffuse PPK",
          "diffuse keratosis palmoplantaris",
          "diffuse palmoplantar hyperkeratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality."
      },
      "child_count": 32,
      "reference_id": "MONDO:0017666"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma"
    }
  ]
}