{
  "id": 8492,
  "label": "pseudohypoparathyroidism type 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007078",
  "properties": {
    "xrefs": [
      "DOID:0080053",
      "GARD:0007486",
      "ICD9:275.49",
      "MEDGEN:488447",
      "MESH:C537045",
      "NANDO:1201075",
      "NCIT:C129721",
      "OMIM:103580",
      "Orphanet:79443",
      "SCTID:58833000",
      "UMLS:C3494506",
      "icd11.foundation:1513156369"
    ],
    "synonyms": [
      "AHO-PHP syndrome Ia",
      "Albright hereditary osteodystrophy",
      "Albright hereditary osteodystrophy with multiple hormone resistance",
      "Albright hereditary osteodystrophy-PHP syndrome Ia",
      "PHP1A",
      "Pseudohypoparathyroidism Ia",
      "Pseudohypoparathyroidism type 1A",
      "AHO",
      "PHP 1A",
      "Pseudohypoparathyroidism, type 1A",
      "Pseudohypoparathyroidism, type IA"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)."
  },
  "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"
    }
  ]
}