{
  "id": 16913,
  "label": "hereditary poikiloderma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016382",
  "properties": {
    "xrefs": [
      "GARD:0020545",
      "MEDGEN:1842934",
      "Orphanet:222628",
      "UMLS:C5680891"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 19129,
      "label": "epidermal disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842776",
          "Orphanet:79353",
          "UMLS:C5681492"
        ],
        "synonyms": [
          "epidermal disease",
          "rare epidermal disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A skin disease that involves the epidermis."
      },
      "child_count": 25,
      "reference_id": "MONDO:0019268"
    }
  ],
  "children": [
    {
      "id": 9568,
      "label": "hereditary sclerosing poikiloderma, Weary type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017136",
          "MEDGEN:91006",
          "MESH:C562824",
          "OMIM:173700",
          "Orphanet:221039",
          "UMLS:C0343094",
          "icd11.foundation:1538273632"
        ],
        "synonyms": [
          "poikiloderma, hereditary sclerosing"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008261"
    },
    {
      "id": 12510,
      "label": "poikiloderma with neutropenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16076,
        16913,
        23867
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011405"
    },
    {
      "id": 15314,
      "label": "hereditary sclerosing poikiloderma with tendon and pulmonary involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6815,
        16913,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013218",
          "MEDGEN:816655",
          "OMIM:615704",
          "Orphanet:221043",
          "UMLS:C3810325",
          "icd11.foundation:1585528459"
        ],
        "synonyms": [
          "POIKTMP syndrome",
          "POIKTMP",
          "hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis",
          "hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome",
          "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis",
          "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014310"
    },
    {
      "id": 25482,
      "label": "inflammatory poikiloderma with hair abnormalities and acral keratoses",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16913,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070510",
          "GARD:0026711",
          "MEDGEN:1824066",
          "OMIM:620199",
          "UMLS:C5774293"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859355"
    }
  ],
  "roots": [
    {
      "id": 19129,
      "label": "epidermal disease"
    }
  ]
}