{
  "id": 12776,
  "label": "DNA ligase IV deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011686",
  "properties": {
    "xrefs": [
      "DOID:0060021",
      "GARD:0015000",
      "MEDGEN:339855",
      "MESH:C564694",
      "NCIT:C122657",
      "OMIM:606593",
      "Orphanet:99812",
      "SCTID:724177005",
      "UMLS:C1847827"
    ],
    "synonyms": [
      "DNA ligase IV deficiency",
      "LIG4 syndrome",
      "ligase 4 syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 18070,
      "label": "T-B- severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021406",
          "MEDGEN:1842252",
          "Orphanet:317419",
          "UMLS:C5679893"
        ],
        "synonyms": [
          "T-B- 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 and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017855"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18070,
      "label": "T-B- severe combined immunodeficiency"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}