{
  "id": 10022,
  "label": "pseudohypoparathyroidism type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008749",
  "properties": {
    "xrefs": [
      "GARD:0010682",
      "ICD9:275.49",
      "MEDGEN:444371",
      "MESH:C548077",
      "NANDO:1201078",
      "OMIM:203330",
      "Orphanet:94090",
      "SCTID:42183005",
      "UMLS:C2932717",
      "icd11.foundation:1650158822"
    ],
    "synonyms": [
      "PHP II",
      "PHP2",
      "Php 2",
      "pseudohypoparathyroidism, type II"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19702,
      "label": "pseudohypoparathyroidism"
    }
  ]
}