{
  "id": 16919,
  "label": "familial hypoparathyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016390",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16764,
      "label": "hereditary hypoparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3460,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020407",
          "MEDGEN:1842344",
          "Orphanet:208593",
          "UMLS:C5680825"
        ],
        "synonyms": [
          "genetic hypoparathyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016165"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 18560,
      "label": "autosomal dominant hypocalcemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        7206,
        16919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090109",
          "GARD:0002877",
          "MEDGEN:884527",
          "OMIMPS:601198",
          "Orphanet:428",
          "SCTID:711152006",
          "UMLS:C4048195"
        ],
        "synonyms": [
          "hypocalcemia",
          "AD hypocalcemia",
          "hypocalcemia, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria."
      },
      "child_count": 6,
      "reference_id": "MONDO:0018543"
    },
    {
      "id": 20197,
      "label": "hypoparathyroidism, familial isolated, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16919
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061151",
          "GARD:0018257",
          "MEDGEN:1715177",
          "OMIM:618883",
          "UMLS:C5394383"
        ],
        "synonyms": [
          "FIH2",
          "hypoparathyroidism, familial isolated 2",
          "hypoparathyroidism, familial isolated, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020798"
    }
  ],
  "roots": [
    {
      "id": 16764,
      "label": "hereditary hypoparathyroidism"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    }
  ]
}