{
  "id": 13952,
  "label": "pseudopseudohypoparathyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012912",
  "properties": {
    "xrefs": [
      "DOID:4183",
      "GARD:0007860",
      "ICD9:275.49",
      "MEDGEN:10995",
      "MESH:D011556",
      "NANDO:2200348",
      "NCIT:C129722",
      "OMIM:612463",
      "Orphanet:665",
      "Orphanet:79445",
      "SCTID:237659007",
      "UMLS:C0033835",
      "icd11.foundation:245649135"
    ],
    "synonyms": [
      "Albright Hereditary osteodystrophy with multiple hormone resistance",
      "Albright hereditary osteodystrophy-PPHP syndrome",
      "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]",
      "aho-PPHP syndrome",
      "pseudopseudohypoparathyroidism",
      "Albright hereditary osteodystrophy without multiple hormone resistance",
      "PPHP",
      "Pseudopseudo-hypoparathyroidism",
      "pseudo-pseudohypoparathyroidism"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19473,
      "label": "acromelic dysplasia"
    },
    {
      "id": 19702,
      "label": "pseudohypoparathyroidism"
    },
    {
      "id": 25052,
      "label": "disorder of GNAS inactivation"
    }
  ]
}