{
  "id": 15610,
  "label": "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014613",
  "properties": {
    "xrefs": [
      "GARD:0016098",
      "MEDGEN:901644",
      "OMIM:616373",
      "UMLS:C4225346"
    ],
    "synonyms": [
      "RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related",
      "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1",
      "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3",
      "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3",
      "PFBMFT3",
      "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2743,
      "label": "pulmonary fibrosis and/or bone marrow failure, telomere-related",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4804,
        22225,
        23885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022715",
          "OMIMPS:614742"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 27,
      "reference_id": "MONDO:0000148"
    },
    {
      "id": 25053,
      "label": "dyskeratosis congenita and related telomere biology disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026567"
        ],
        "synonyms": [
          "dyskeratosis congenita and related telomere biology disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800467"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2743,
      "label": "pulmonary fibrosis and/or bone marrow failure, telomere-related"
    },
    {
      "id": 25053,
      "label": "dyskeratosis congenita and related telomere biology disorder"
    }
  ]
}