{
    "disease_id": "DOID:0111535",
    "recommended_name": {
        "id": "DOID:0111535",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111535",
        "name": "progressive osseous heteroplasia",
        "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111535",
            "name": "POH",
            "description": ""
        },
        {
            "id": "DOID:0111535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111535",
            "name": "ectopic ossification familial type",
            "description": ""
        },
        {
            "id": "DOID:0111535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111535",
            "name": "familial ectopic ossification",
            "description": ""
        },
        {
            "id": "DOID:0111535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111535",
            "name": "osteoma cutis",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "progressive osseous heteroplasia",
            "description": "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."
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "POH",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "familial ectopic ossification",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "poh",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "ectopic ossification familial type",
            "description": ""
        },
        {
            "id": "MONDO:0008153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008153",
            "name": "osseous heteroplasia, progressive",
            "description": ""
        },
        {
            "id": "MIM:166350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166350",
            "name": "Progressive osseous heteroplasia",
            "description": "Progressive osseous heteroplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111535"
    ],
    "unlinked_id_list": []
}