{
  "id": 9141,
  "label": "hypoparathyroidism, familial isolated 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007796",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16919,
      "label": "familial hypoparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16764,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111387",
          "GARD:0002910",
          "MEDGEN:322005",
          "MESH:C537156",
          "NORD:1128",
          "OMIMPS:146200",
          "Orphanet:2238",
          "SCTID:725036000",
          "UMLS:C1832648",
          "icd11.foundation:1907423603"
        ],
        "synonyms": [
          "Familial Isolated Hypoparathyroidism",
          "familial isolated hypoparathyroidism",
          "hypoparathyroidism familial isolated",
          "hypoparathyroidism, familial",
          "hypoparathyroidism, familial isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016390"
    }
  ],
  "children": [
    {
      "id": 11765,
      "label": "familial isolated hypoparathyroidism due to agenesis of parathyroid gland",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9141
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010618"
    },
    {
      "id": 16642,
      "label": "familial isolated hypoparathyroidism due to impaired PTH secretion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017088",
          "MEDGEN:1843283",
          "Orphanet:189466",
          "UMLS:C5680524"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016000"
    }
  ],
  "roots": [
    {
      "id": 16919,
      "label": "familial hypoparathyroidism"
    }
  ]
}