{
  "id": 15314,
  "label": "hereditary sclerosing poikiloderma with tendon and pulmonary involvement",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014310",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6815,
      "label": "respiratory system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1579",
          "EFO:0000684",
          "ICD10CM:J00-J99",
          "ICD9:460-519",
          "ICD9:500-508",
          "ICD9:503",
          "ICD9:508",
          "ICD9:508.1",
          "ICD9:508.8",
          "ICD9:508.9",
          "ICD9:510-519",
          "ICD9:516",
          "ICD9:516.8",
          "ICD9:516.9",
          "ICD9:517",
          "ICD9:517.8",
          "ICD9:519",
          "ICD9:519.1",
          "ICD9:519.3",
          "ICD9:519.8",
          "ICD9:519.9",
          "ICD9:V12.60",
          "ICD9:V47.2",
          "MEDGEN:48421",
          "MESH:D012140",
          "NANDO:1100010",
          "NCIT:C26871",
          "SCTID:50043002",
          "UMLS:C0035204"
        ],
        "synonyms": [
          "disease of respiratory system",
          "disease or disorder of respiratory system",
          "disorder of respiratory system",
          "respiratory disease",
          "respiratory disorder",
          "respiratory system disease",
          "respiratory system disease or disorder",
          "respiratory system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma."
      },
      "child_count": 59,
      "reference_id": "MONDO:0005087"
    },
    {
      "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": 6815,
      "label": "respiratory system disorder"
    },
    {
      "id": 16913,
      "label": "hereditary poikiloderma"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}