{
  "id": 17636,
  "label": "phakomatosis pigmentokeratotica",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017317",
  "properties": {
    "xrefs": [
      "GARD:0004311",
      "MEDGEN:419860",
      "MESH:C537893",
      "Orphanet:2874",
      "SCTID:723455009",
      "UMLS:C2931658",
      "icd11.foundation:960559196"
    ],
    "synonyms": [
      "Phacomatosis pigmentokeratotica",
      "organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3049,
      "label": "nervous system benign neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6887,
        20456
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060115",
          "ICD9:225.8",
          "ICD9:225.9",
          "MEDGEN:99232",
          "NCIT:C4789",
          "SCTID:92247009",
          "UMLS:C0497550"
        ],
        "synonyms": [
          "benign neoplasm of nervous system",
          "benign neoplasm of the nervous system",
          "benign nervous system neoplasm",
          "benign nervous system tumor",
          "benign nervous system tumour",
          "benign tumor of nervous system",
          "benign tumor of the nervous system",
          "benign tumour of nervous system",
          "benign tumour of the nervous system",
          "nervous system benign neoplasm",
          "nervous system neoplasm, benign"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0000648"
    },
    {
      "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": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    },
    {
      "id": 23107,
      "label": "neurocutaneous syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:82706",
          "MESH:D020752",
          "NANDO:2100220",
          "NCIT:C84348",
          "SCTID:78572006",
          "UMLS:C0265316"
        ],
        "synonyms": [
          "neurocutaneous syndrome",
          "Phacomatoses",
          "Phacomatosis",
          "Phakomatoses",
          "neurocutaneous disorder",
          "neurocutaneous disorders",
          "neuroectodermal dysplasia",
          "neuroectodermal dysplasia syndrome",
          "neuroectodermal dysplasia syndromes",
          "phakomatosis",
          "syndrome, neurocutaneous",
          "syndrome, neuroectodermal dysplasia",
          "syndromes, neurocutaneous",
          "syndromes, neuroectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs."
      },
      "child_count": 9,
      "reference_id": "MONDO:0042983"
    },
    {
      "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"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3049,
      "label": "nervous system benign neoplasm"
    },
    {
      "id": 6801,
      "label": "melanocytic nevus"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    },
    {
      "id": 23107,
      "label": "neurocutaneous syndrome"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}