{
  "id": 9464,
  "label": "progressive osseous heteroplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008153",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20387,
      "label": "dermis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1843083",
          "Orphanet:79381",
          "UMLS:C5681483"
        ],
        "synonyms": [
          "dermis disease",
          "dermis disease or disorder",
          "disease of dermis",
          "disease or disorder of dermis",
          "disorder of dermis",
          "other dermis disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease that involves the dermis."
      },
      "child_count": 28,
      "reference_id": "MONDO:0021154"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    },
    {
      "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": 20387,
      "label": "dermis disorder"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    },
    {
      "id": 25052,
      "label": "disorder of GNAS inactivation"
    }
  ]
}