{
  "id": 18008,
  "label": "PENS syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017785",
  "properties": {
    "xrefs": [
      "GARD:0013447",
      "MEDGEN:1654469",
      "Orphanet:313936",
      "UMLS:C4749916"
    ],
    "synonyms": [
      "papular epidermal nevi with skyline basal cell layers syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6801,
      "label": "melanocytic nevus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20564,
        20680
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009675",
          "MEDGEN:14364",
          "MESH:D009506",
          "NCIT:C7570",
          "SCTID:400096001",
          "UMLS:C0027962",
          "Wikipedia:Nevus"
        ],
        "synonyms": [
          "melanocytic Nevus",
          "melanotic Nevus",
          "mole",
          "mole of skin",
          "nevus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin."
      },
      "child_count": 56,
      "reference_id": "MONDO:0005073"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6801,
      "label": "melanocytic nevus"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}