{
  "id": 11317,
  "label": "Pendred syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010134",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18613,
      "label": "congenital hypothyroidism"
    }
  ]
}