{
  "id": 16764,
  "label": "hereditary hypoparathyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016165",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3460,
      "label": "hypoparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11199",
          "EFO:0009451",
          "GARD:0006733",
          "ICD10CM:E20",
          "ICD10WHO:E20",
          "ICD9:252.1",
          "MEDGEN:6985",
          "MESH:D007011",
          "NANDO:1200775",
          "NANDO:2100124",
          "NANDO:2200345",
          "NCIT:C78350",
          "SCTID:36976004",
          "UMLS:C0020626",
          "icd11.foundation:1708733050"
        ],
        "synonyms": [
          "hypoparathyroidism, idiopathic (subtype)",
          "parathyroid, underactivity of"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body."
      },
      "child_count": 3,
      "reference_id": "MONDO:0001220"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 10642,
      "label": "autoimmune polyendocrine syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7151,
        16764,
        17602,
        18365
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050167",
          "GARD:0008466",
          "ICD9:258.8",
          "MEDGEN:39125",
          "NANDO:2200346",
          "NANDO:2200738",
          "NCIT:C129727",
          "NORD:798",
          "OMIM:240300",
          "Orphanet:3453",
          "SCTID:11244009",
          "UMLS:C0085859"
        ],
        "synonyms": [
          "AIRE autoimmune polyendocrinopathy",
          "APECED syndrome",
          "APS type 1",
          "APS1",
          "Autoimmune Polyglandular Syndrome Type 1",
          "MEDAC syndrome",
          "Whitaker syndrom",
          "aire autoimmune polyendocrinopathy",
          "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome",
          "autoimmune polyendocrine syndrome type 1",
          "autoimmune polyendocrinopathy caused by mutation in AIRE",
          "autoimmune polyendocrinopathy caused by mutation in aire",
          "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia",
          "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy",
          "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome",
          "autoimmune polyglandular syndrome type 1",
          "ham syndrome",
          "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome",
          "multiple endocrine deficiency-Addison disease-candidiasis syndrome",
          "polyglandular autoimmune syndrome type 1",
          "APS 1",
          "PGA 1",
          "Whitaker syndrome",
          "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia",
          "autoimmune polyendocrinopathy syndrome type 1",
          "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant",
          "autoimmune polyendocrinopathy type 1",
          "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)",
          "autoimmune polyglandular syndrome, type 1",
          "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis",
          "polyglandular autoimmune syndrome, type 1",
          "polyglandular deficiency syndrome, Persian-Jewish type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009411"
    },
    {
      "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"
    },
    {
      "id": 19702,
      "label": "pseudohypoparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6470,
        16198,
        16626,
        16764
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4184",
          "GARD:0010758",
          "ICD10CM:E20.1",
          "ICD9:275.49",
          "MEDGEN:46178",
          "MESH:D011547",
          "MedDRA:10037126",
          "NANDO:1200776",
          "NANDO:2100126",
          "NANDO:2200349",
          "NCIT:C99027",
          "NORD:1627",
          "Orphanet:97593",
          "SCTID:58976002",
          "UMLS:C0033806",
          "icd11.foundation:1225154856"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)."
      },
      "child_count": 20,
      "reference_id": "MONDO:0019992"
    }
  ],
  "roots": [
    {
      "id": 3460,
      "label": "hypoparathyroidism"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}