{
  "id": 12561,
  "label": "ataxia-telangiectasia-like disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011457",
  "properties": {
    "xrefs": [
      "GARD:0024799",
      "ICD9:334.8",
      "MEDGEN:348929",
      "MESH:C565779",
      "OMIMPS:604391",
      "SCTID:700058006",
      "UMLS:C1858391",
      "icd11.foundation:242329289"
    ],
    "synonyms": [
      "ATLD",
      "ataxia - telangiectasia-like disorder",
      "ataxia-telangiectasia-like disorder type 1",
      "ATLD1",
      "ataxia-telangiectasia-like disorder 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [
    {
      "id": 10109,
      "label": "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12561,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050754",
          "GARD:0009283",
          "MEDGEN:395301",
          "MESH:C538013",
          "NANDO:1200051",
          "OMIM:208920",
          "Orphanet:1168",
          "UMLS:C1859598"
        ],
        "synonyms": [
          "AOA1",
          "APTX oculomotor apraxia or related oculomotor disease",
          "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",
          "oculomotor apraxia or related oculomotor disease caused by mutation in APTX",
          "EAOH",
          "EOCA-HA",
          "ataxia, adult-onset, with oculomotor apraxia",
          "ataxia-oculomotor apraxia 1",
          "ataxia-oculomotor apraxia syndrome",
          "ataxia-oculomotor apraxia type 1",
          "ataxia-telangiectasia-like syndrome",
          "cerebellar ataxia, early-onset, with hypoalbuminemia",
          "early-onset ataxia with oculomotor apraxia and hypoalbuminemia",
          "early-onset cerebellar ataxia with hypoalbuminemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008842"
    },
    {
      "id": 15401,
      "label": "ataxia-telangiectasia-like disorder 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12561,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081385",
          "GARD:0017736",
          "MEDGEN:863113",
          "OMIM:615919",
          "Orphanet:438134",
          "UMLS:C4014676"
        ],
        "synonyms": [
          "ataxia-telangiectasia-like disorder 2",
          "ataxia-telangiectasia-like disorder type 2",
          "ATLD2",
          "PCNA-related progressive neurodegenerative photosensitivity syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014399"
    },
    {
      "id": 21502,
      "label": "ataxia-telangiectasia-like disorder 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12561,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081384",
          "GARD:0017209",
          "MEDGEN:861227",
          "NCIT:C132224",
          "OMIM:604391",
          "Orphanet:251347",
          "UMLS:C4012790"
        ],
        "synonyms": [
          "MRE11 ataxia - telangiectasia-like disorder",
          "MRE11 ataxia-telangiectasia-like disorder",
          "ataxia - telangiectasia-like disorder caused by mutation in MRE11",
          "ataxia-telangiectasia-like disorder 1",
          "ataxia-telangiectasia-like disorder caused by mutation in MRE11",
          "ATLD1",
          "Atld"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024557"
    }
  ],
  "roots": [
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}