{
  "id": 10107,
  "label": "ataxia telangiectasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008840",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16075,
      "label": "combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111962",
          "DOID:628",
          "GARD:0019806",
          "ICD9:279.2",
          "MEDGEN:751396",
          "NANDO:2100203",
          "NCIT:C27871",
          "Orphanet:101972",
          "UMLS:C2711630",
          "icd11.foundation:1616506198"
        ],
        "synonyms": [
          "CID",
          "congenital combined immunodeficiency",
          "X-linked combined immunodeficiency",
          "combined T and B cell immunodeficiency",
          "combined T cell and B cell immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015131"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7067,
        16330,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019294",
          "MEDGEN:443920",
          "OMIMPS:311360",
          "Orphanet:95710",
          "UMLS:C2930861"
        ],
        "synonyms": [
          "hereditary primary ovarian failure",
          "inherited POI",
          "inherited premature ovarian failure",
          "inherited primary ovarian insufficiency",
          "non-acquired premature ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 164,
      "reference_id": "MONDO:0019852"
    },
    {
      "id": 24046,
      "label": "hereditary cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2908,
        21292,
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026137",
          "MEDGEN:78726",
          "NCIT:C140268",
          "UMLS:C0270749"
        ],
        "synonyms": [
          "cerebellar hereditary ataxia",
          "hereditary cerebellar ataxia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cerebellar ataxia that is transmitted from parent to child."
      },
      "child_count": 15,
      "reference_id": "MONDO:0100310"
    }
  ],
  "children": [
    {
      "id": 10108,
      "label": "ataxia-telangiectasia with generalized skin pigmentation and early death",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10107
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008841"
    }
  ],
  "roots": [
    {
      "id": 16075,
      "label": "combined immunodeficiency"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure"
    },
    {
      "id": 24046,
      "label": "hereditary cerebellar ataxia"
    }
  ]
}