{
    "disease_id": "DOID:0080222",
    "recommended_name": {
        "id": "DOID:0080222",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080222",
        "name": "pseudohypoparathyroidism type 1B",
        "description": "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS."
    },
    "synonyms": [
        {
            "id": "DOID:0080222",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080222",
            "name": "PHP Ib",
            "description": ""
        },
        {
            "id": "MONDO:0011301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011301",
            "name": "pseudohypoparathyroidism type 1B",
            "description": "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."
        },
        {
            "id": "MONDO:0011301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011301",
            "name": "pseudohypoparathyroidism Ib",
            "description": ""
        },
        {
            "id": "MONDO:0011301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011301",
            "name": "PHP1B",
            "description": ""
        },
        {
            "id": "MONDO:0011301",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011301",
            "name": "pseudohypoparathyroidism, type IB",
            "description": ""
        },
        {
            "id": "MIM:603233",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603233",
            "name": "Pseudohypoparathyroidism 1B",
            "description": "Pseudohypoparathyroidism 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080222"
    ],
    "unlinked_id_list": []
}