{
  "id": 12417,
  "label": "pseudohypoparathyroidism type 1B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011301",
  "properties": {
    "xrefs": [
      "DOID:0080222",
      "GARD:0010680",
      "MEDGEN:350343",
      "MESH:C548075",
      "NANDO:1201076",
      "OMIM:603233",
      "Orphanet:94089",
      "UMLS:C1864100",
      "icd11.foundation:440485628"
    ],
    "synonyms": [
      "pseudohypoparathyroidism Ib",
      "PHP1B",
      "Php 1B",
      "pseudohypoparathyroidism type IB",
      "pseudohypoparathyroidism, type 1B",
      "pseudohypoparathyroidism, type IB"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 25052,
      "label": "disorder of GNAS inactivation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028065"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800466"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19702,
      "label": "pseudohypoparathyroidism"
    },
    {
      "id": 25052,
      "label": "disorder of GNAS inactivation"
    }
  ]
}