{
  "id": 13951,
  "label": "pseudohypoparathyroidism type 1C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012911",
  "properties": {
    "xrefs": [
      "DOID:0051013",
      "GARD:0010681",
      "MEDGEN:420958",
      "MESH:C548076",
      "NANDO:1201077",
      "OMIM:612462",
      "Orphanet:79444",
      "SCTID:717792007",
      "UMLS:C2932716",
      "icd11.foundation:1401673748"
    ],
    "synonyms": [
      "pseudohypoparathyroidism Ic",
      "PHP1C",
      "Php 1C",
      "pseudohypoparathyroidism, type 1C",
      "pseudohypoparathyroidism, type IC"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18458,
      "label": "primary avascular necrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021664",
          "MEDGEN:1842421",
          "Orphanet:399302",
          "UMLS:C5680038"
        ],
        "synonyms": [
          "primary AVN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0018379"
    },
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7060
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021667",
          "MEDGEN:1842788",
          "Orphanet:399380",
          "UMLS:C5680035"
        ],
        "synonyms": [
          "bone necrosis of genetic origin",
          "genetic osteonecrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of osteonecrosis that is caused by a modification of the individual's genome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018383"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019194",
          "MEDGEN:1843369",
          "Orphanet:93436",
          "UMLS:C4736195",
          "icd11.foundation:177141175"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0019695"
    },
    {
      "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": 18458,
      "label": "primary avascular necrosis"
    },
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia"
    },
    {
      "id": 19702,
      "label": "pseudohypoparathyroidism"
    },
    {
      "id": 25052,
      "label": "disorder of GNAS inactivation"
    }
  ]
}