{
  "id": 12510,
  "label": "poikiloderma with neutropenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011405",
  "properties": {
    "xrefs": [
      "DOID:0060551",
      "GARD:0004085",
      "MEDGEN:388129",
      "NANDO:2200749",
      "NCIT:C177535",
      "NORD:2022",
      "OMIM:604173",
      "Orphanet:221046",
      "UMLS:C1858723"
    ],
    "synonyms": [
      "Prurigo Nodularis",
      "poikiloderma with neutropenia",
      "poikiloderma with neutropenia, Clericuzio type",
      "Clericuzio type poikiloderma with neutropenia",
      "PN",
      "poikiloderma with neutropenia Clericuzio type",
      "poikiloderma with neutropenia, Clericuzio-type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16076,
      "label": "constitutional neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3689,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019809",
          "MEDGEN:1785816",
          "NCIT:C61242",
          "Orphanet:101987",
          "UMLS:C3805116",
          "icd11.foundation:87096615"
        ],
        "synonyms": [
          "congenital neutropenia",
          "genetic infantile agranulocytosis",
          "infantile genetic agranulocytosis",
          "Kostmann disease",
          "Kostmann neutropenia",
          "Kostmann syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015134"
    },
    {
      "id": 16913,
      "label": "hereditary poikiloderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020545",
          "MEDGEN:1842934",
          "Orphanet:222628",
          "UMLS:C5680891"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016382"
    },
    {
      "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": 16076,
      "label": "constitutional neutropenia"
    },
    {
      "id": 16913,
      "label": "hereditary poikiloderma"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}