{
  "id": 10108,
  "label": "ataxia-telangiectasia with generalized skin pigmentation and early death",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008841",
  "properties": {
    "xrefs": [
      "GARD:0015141",
      "MEDGEN:395306",
      "MESH:C565930",
      "OMIM:208910",
      "UMLS:C1859615"
    ],
    "synonyms": [
      "ataxia-telangiectasia with generalized skin pigmentation and early death"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10107,
      "label": "ataxia telangiectasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075,
        19578,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12704",
          "GARD:0005862",
          "ICD9:334.8",
          "MEDGEN:439",
          "MESH:D001260",
          "MedDRA:10003594",
          "NANDO:1200331",
          "NANDO:2200705",
          "NCIT:C2887",
          "NORD:816",
          "OMIM:208900",
          "Orphanet:100",
          "SCTID:68504005",
          "UMLS:C0004135"
        ],
        "synonyms": [
          "Louis-Bar syndrome",
          "ataxia - telangiectasia",
          "ataxia telangiectasia",
          "ataxia telangiectasia syndrome",
          "AT",
          "AT, complementation group A",
          "AT, complementation group C",
          "AT, complementation group D",
          "AT, complementation group E",
          "AT1",
          "ataxia - telangiectasia variant",
          "ataxia-telangiectasia",
          "cerebello-oculocutaneous telangiectasia",
          "immunodeficiency with ataxia telangiectasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008840"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10107,
      "label": "ataxia telangiectasia"
    }
  ]
}