{
  "id": 11315,
  "label": "familial thyroid dyshormonogenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010132",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 18613,
      "label": "congenital hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7093
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050328",
          "GARD:0001487",
          "ICD9:243",
          "ICD9:269.3",
          "ICD9:759.89",
          "MEDGEN:41344",
          "MESH:D003409",
          "MedDRA:10010510",
          "NANDO:2200333",
          "NCIT:C26734",
          "Orphanet:442",
          "SCTID:190268003",
          "SCTID:217710005",
          "UMLS:C0010308",
          "icd11.foundation:602450215"
        ],
        "synonyms": [
          "congenital hypothyroidism",
          "congenital iodine deficiency syndrome",
          "congenital goiter",
          "congenital goitre",
          "congenital hypothyroidism not due to iodine deficiency",
          "cretinism",
          "fetal iodine deficiency syndrome",
          "foetal iodine deficiency syndrome",
          "infantile hypothyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A thyroid hormone deficiency present from birth."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018612"
    },
    {
      "id": 23532,
      "label": "inherited thyroid metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5187,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025937",
          "ICD9:246.8",
          "MEDGEN:543589",
          "SCTID:36985004",
          "UMLS:C0271824"
        ],
        "synonyms": [
          "inborn error of thyroid hormone metabolic process",
          "inborn thyroid hormone metabolic process disorder",
          "inherited disorder of thyroid metabolism",
          "rare inborn error of thyroid hormone metabolic process"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process."
      },
      "child_count": 4,
      "reference_id": "MONDO:0045046"
    }
  ],
  "children": [
    {
      "id": 11316,
      "label": "thyroid dyshormonogenesis 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11315
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010133"
    },
    {
      "id": 11318,
      "label": "thyroid dyshormonogenesis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112187",
          "GARD:0018190",
          "MEDGEN:90976",
          "MESH:C562769",
          "OMIM:274700",
          "SCTID:23536000",
          "UMLS:C0342194"
        ],
        "synonyms": [
          "TDH3",
          "TG familial thyroid dyshormonogenesis",
          "familial thyroid dyshormonogenesis caused by mutation in TG",
          "hypothyroidism, congenital, due to dyshormonogenesis, 3",
          "thyroid dyshormonogenesis 3",
          "thyroid dyshormonogenesis type 3",
          "thyroid hormonogenesis, genetic defect in, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010135"
    },
    {
      "id": 11319,
      "label": "thyroid dyshormonogenesis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112188",
          "GARD:0018191",
          "MEDGEN:87429",
          "MESH:C562770",
          "OMIM:274800",
          "SCTID:17885001",
          "UMLS:C0342195"
        ],
        "synonyms": [
          "IYD familial thyroid dyshormonogenesis",
          "TDH4",
          "familial thyroid dyshormonogenesis caused by mutation in IYD",
          "hypothyroidism, congenital, due to dyshormonogenesis, 4",
          "thyroid dyshormonogenesis 4",
          "thyroid dyshormonogenesis type 4",
          "thyroid hormonogenesis, genetic defect in, 4",
          "deiodinase deficiency",
          "iodotyrosine dehalogenase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010136"
    },
    {
      "id": 11320,
      "label": "thyroid dyshormonogenesis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112184",
          "GARD:0018192",
          "MEDGEN:87430",
          "MESH:C562771",
          "OMIM:274900",
          "SCTID:63127008",
          "UMLS:C0342196"
        ],
        "synonyms": [
          "DUOXA2 familial thyroid dyshormonogenesis",
          "TDH5",
          "familial thyroid dyshormonogenesis caused by mutation in DUOXA2",
          "hypothyroidism, congenital, due to dyshormonogenesis, 5",
          "thyroid dyshormonogenesis 5",
          "thyroid dyshormonogenesis type 5",
          "thyroid hormonogenesis, genetic defect in, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010137"
    },
    {
      "id": 12875,
      "label": "thyroid dyshormonogenesis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112189",
          "GARD:0018193",
          "MEDGEN:375935",
          "MESH:C564608",
          "OMIM:607200",
          "Orphanet:226316",
          "UMLS:C1846632"
        ],
        "synonyms": [
          "DUOX2 familial thyroid dyshormonogenesis",
          "familial thyroid dyshormonogenesis caused by mutation in DUOX2",
          "thyroid dyshormonogenesis 6",
          "thyroid dyshormonogenesis type 6",
          "TDH6",
          "hypothyroidism, congenital, due to dyshormonogenesis, 6",
          "thyroid hormonogenesis, genetic defect in, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011792"
    },
    {
      "id": 20123,
      "label": "thyroid dyshormonogenesis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112185",
          "GARD:0018188",
          "MEDGEN:336422",
          "OMIM:274400",
          "UMLS:C1848805"
        ],
        "synonyms": [
          "TDH1",
          "familial thyroid dyshormonogenesis 1",
          "hypothyroidism, congenital, due to dyshormonogenesis, 1",
          "iodine accumulation, transport, or trapping defect",
          "thyroid dyshormonogenesis type 1",
          "thyroid hormonogenesis, genetic defect in, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020716"
    }
  ],
  "roots": [
    {
      "id": 18613,
      "label": "congenital hypothyroidism"
    },
    {
      "id": 23532,
      "label": "inherited thyroid metabolism disease"
    }
  ]
}