{
  "id": 11316,
  "label": "thyroid dyshormonogenesis 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010133",
  "properties": {
    "xrefs": [
      "DOID:0112186",
      "GARD:0018189",
      "ICD9:277.6",
      "MEDGEN:226940",
      "MESH:C563206",
      "NCIT:C121750",
      "OMIM:274500",
      "SCTID:124204003",
      "UMLS:C1291299"
    ],
    "synonyms": [
      "TDH2A",
      "TPO familial thyroid dyshormonogenesis",
      "familial thyroid dyshormonogenesis caused by mutation in TPO",
      "hypothyroidism, congenital, due to dyshormonogenesis, 2A",
      "thyroid dyshormonogenesis 2A",
      "thyroid dyshormonogenesis type 2A",
      "thyroid hormonogenesis, genetic defect in, 2A",
      "iodide peroxidase deficiency",
      "thyroid peroxidase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11315,
      "label": "familial thyroid dyshormonogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18613,
        23532
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112183",
          "GARD:0016843",
          "MEDGEN:903446",
          "MESH:C564766",
          "NCIT:C121751",
          "OMIMPS:274400",
          "Orphanet:95716",
          "SCTID:718183003",
          "UMLS:C4273748"
        ],
        "synonyms": [
          "dyshormonogenesis",
          "nongoitrous hyperthyrotropinemia",
          "thyroid dyshormonogenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis."
      },
      "child_count": 12,
      "reference_id": "MONDO:0010132"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11315,
      "label": "familial thyroid dyshormonogenesis"
    }
  ]
}