{
  "id": 18613,
  "label": "congenital hypothyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018612",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 7093,
      "label": "hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5187
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1459",
          "EFO:0004705",
          "ICD9:244.9",
          "MEDGEN:6991",
          "MESH:D007037",
          "NANDO:2100120",
          "NCIT:C26800",
          "SCTID:40930008",
          "UMLS:C0020676",
          "icd11.foundation:1722092627"
        ],
        "synonyms": [
          "hypothyroidism",
          "underactive thyroid",
          "hypothyroid"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Abnormally low levels of thyroid hormone."
      },
      "child_count": 6,
      "reference_id": "MONDO:0005420"
    }
  ],
  "children": [
    {
      "id": 2710,
      "label": "hypothyroidism, congenital, nongoitrous",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022704",
          "OMIMPS:275200"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0000045"
    },
    {
      "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"
    },
    {
      "id": 11317,
      "label": "Pendred syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        18613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060744",
          "GARD:0004271",
          "MEDGEN:82890",
          "MESH:C536648",
          "NCIT:C121745",
          "NORD:2030",
          "OMIM:274600",
          "Orphanet:705",
          "SCTID:70348004",
          "UMLS:C0271829",
          "icd11.foundation:1156056623"
        ],
        "synonyms": [
          "Pendred syndrome",
          "TDH2B",
          "deafness with goiter",
          "deafness with goitre",
          "goiter-deafness syndrome",
          "hypothyroidism, congenital, due to dyshormonogenesis, 2B",
          "thyroid dyshormonogenesis 2B",
          "thyroid hormonogenesis, genetic defect in, 2B",
          "PDS",
          "autosomal recessive sensorineural hearing impairment and goiter",
          "autosomal recessive sensorineural hearing impairment and goitre"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010134"
    },
    {
      "id": 16545,
      "label": "transient congenital hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020142",
          "MEDGEN:820541",
          "NCIT:C113171",
          "Orphanet:178045",
          "SCTID:119181000119104",
          "UMLS:C3827793",
          "icd11.foundation:592246939"
        ],
        "synonyms": [
          "THOP",
          "hypothyroxinemia of prematurity",
          "transient hypothyroxinemia of prematurity"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015792"
    },
    {
      "id": 16926,
      "label": "permanent congenital hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16330,
        18613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020560",
          "MEDGEN:1843186",
          "Orphanet:226292",
          "UMLS:C5680893",
          "icd11.foundation:801729371"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016408"
    },
    {
      "id": 19582,
      "label": "idiopathic congenital hypothyroidism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18613,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019298",
          "MEDGEN:901252",
          "Orphanet:95717",
          "SCTID:717334008",
          "UMLS:C4273913"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019858"
    },
    {
      "id": 21232,
      "label": "Kocher-debre-Semelaigne syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        5798,
        18613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025371",
          "MESH:C537211",
          "icd11.foundation:109007822"
        ],
        "synonyms": [
          "Kocher debre Semelaigne disease",
          "association of muscular pseudohypertrophy and hypothyroidism in children"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023558"
    },
    {
      "id": 23124,
      "label": "hypothyroidism due to iodide transport defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002938",
          "MEDGEN:124412",
          "NCIT:C121747",
          "SCTID:22558005",
          "UMLS:C0271826"
        ],
        "synonyms": [
          "hypothyroidism due to iodide transport defect",
          "iodide Transport defect",
          "iodide transport defect",
          "hypothyroidism due to iodide concentration defect",
          "iodide transport failure",
          "iodine accumulation defect",
          "iodine transport defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition."
      },
      "child_count": 0,
      "reference_id": "MONDO:0043103"
    }
  ],
  "roots": [
    {
      "id": 7093,
      "label": "hypothyroidism"
    }
  ]
}