{
    "disease_id": "DOID:0111063",
    "recommended_name": {
        "id": "DOID:0111063",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111063",
        "name": "hyperphosphatemic familial tumoral calcinosis",
        "description": "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene."
    },
    "synonyms": [
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "HFTC",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "HHS",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "PHPTC",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "cortical hyperostosis with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "familial Teutschlaender disease",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "hypercalcemic tumoral calcinosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "hyperostosis with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "hyperphosphatemia hyperostosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "hyperphosphatemia hyperostosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "hyperphosphatemia tumoral calcinosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "lipocalcinogranulomatosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "morbus Teutschlaender",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "primary hyperphosphatemic tumoral calcinosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111063",
            "name": "tumoral calcinosis with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "hyperphosphatemic familial tumoral calcinosis",
            "description": "Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved."
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "HFTC",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "tumoral calcinosis, hyperphosphatemic, familial",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "hyperphosphatemia hyperostosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "hyperostosis with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "Morbus Teutschlaender",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "calcinosis, tumoral, with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "hyperphosphatemia hyperostosis",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "Teutschlaender disease, familial",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "hyperostosis-hyperphosphatemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1; HFTC1",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "tumoral calcinosis, hyperphosphatemic, familial; HFTC",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "hyperphosphatemia tumoral calcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "tumoral calcinosis with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "tumoral calcinosis, Hyperphosphatemic, familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "morbus Teutschlaender",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "cortical hyperostosis with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "tumoral calcinosis, primary Hyperphosphatemic",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "hypercalcemic tumoral calcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "HFTC1",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "HHS",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "familial Teutschlaender disease",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "primary hyperphosphatemic tumoral calcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "PHPTC",
            "description": ""
        },
        {
            "id": "MONDO:0008897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008897",
            "name": "lipocalcinogranulomatosis",
            "description": ""
        },
        {
            "id": "MIM:211900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211900",
            "name": "Tumoral calcinosis, hyperphosphatemic, familial, 1",
            "description": "Tumoral calcinosis, hyperphosphatemic, familial, 1"
        }
    ]
}
