{
  "id": 13797,
  "label": "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012757",
  "properties": {
    "xrefs": [
      "GARD:0016947",
      "MEDGEN:461506",
      "OMIM:611926",
      "Orphanet:137631",
      "SCTID:721977007",
      "UMLS:C3150156"
    ],
    "synonyms": [
      "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17417,
      "label": "primary interstitial lung disease specific to childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010559",
          "MEDGEN:853969",
          "Orphanet:264665",
          "UMLS:C3161253",
          "icd11.foundation:1408868257"
        ],
        "synonyms": [
          "primary ILD specific to childhood",
          "primary interstitial lung disease specific to childhood",
          "cHILD",
          "children's interstitial lung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017015"
    },
    {
      "id": 22225,
      "label": "inherited interstitial lung disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16615
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027936",
          "OMIMPS:619611"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An instance of interstitial lung disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0031199"
    },
    {
      "id": 23289,
      "label": "T-B+ severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021405",
          "MEDGEN:1842847",
          "Orphanet:317416",
          "UMLS:C5679894"
        ],
        "synonyms": [
          "T-B+ SCID",
          "T-cell negative B-cell positive SCID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive."
      },
      "child_count": 10,
      "reference_id": "MONDO:0044200"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17417,
      "label": "primary interstitial lung disease specific to childhood"
    },
    {
      "id": 22225,
      "label": "inherited interstitial lung disease"
    },
    {
      "id": 23289,
      "label": "T-B+ severe combined immunodeficiency"
    }
  ]
}