{
  "id": 11765,
  "label": "familial isolated hypoparathyroidism due to agenesis of parathyroid gland",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010618",
  "properties": {
    "xrefs": [
      "DOID:0111388",
      "GARD:0016589",
      "MEDGEN:87437",
      "MESH:C563238",
      "NCIT:C131079",
      "OMIM:307700",
      "Orphanet:2239",
      "UMLS:C0342344",
      "icd11.foundation:1282942432"
    ],
    "synonyms": [
      "X-linked hypoparathyroidism",
      "HYPX",
      "hypoparathyroidism, X-linked",
      "parathyroid glands, agenesis of"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9141,
      "label": "hypoparathyroidism, familial isolated 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061150",
          "GARD:0024578",
          "MEDGEN:1713884",
          "OMIM:146200",
          "SCTID:237657009",
          "UMLS:C5241444"
        ],
        "synonyms": [
          "FIH",
          "hypoparathyroidism, familial isolated",
          "FIH1",
          "hypoparathyroidism, familial isolated 1",
          "hypoparathyroidism familial isolated",
          "hypoparathyroidism, autosomal dominant",
          "hypoparathyroidism, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0007796"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9141,
      "label": "hypoparathyroidism, familial isolated 1"
    }
  ]
}