{
  "id": 25052,
  "label": "disorder of GNAS inactivation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800466",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    }
  ],
  "children": [
    {
      "id": 8492,
      "label": "pseudohypoparathyroidism type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19473,
        19702,
        25052
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007078"
    },
    {
      "id": 9464,
      "label": "progressive osseous heteroplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20387,
        23867,
        25052
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111535",
          "GARD:0000109",
          "MEDGEN:137714",
          "MESH:C562735",
          "MedDRA:10048902",
          "NORD:1618",
          "OMIM:166350",
          "Orphanet:2762",
          "SCTID:719271000",
          "UMLS:C0334041",
          "icd11.foundation:1107209347"
        ],
        "synonyms": [
          "POH",
          "familial ectopic ossification",
          "poh",
          "ectopic ossification familial type",
          "ectopic ossification, familial",
          "osseous heteroplasia, progressive",
          "osteoma cutis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008153"
    },
    {
      "id": 12417,
      "label": "pseudohypoparathyroidism type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19702,
        25052
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011301"
    },
    {
      "id": 13951,
      "label": "pseudohypoparathyroidism type 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18458,
        18462,
        19473,
        19702,
        25052
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012911"
    },
    {
      "id": 13952,
      "label": "pseudopseudohypoparathyroidism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19473,
        19702,
        25052
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012912"
    }
  ],
  "roots": [
    {
      "id": 6875,
      "label": "endocrine system disorder"
    }
  ]
}