{
    "disease_id": "DOID:0080038",
    "recommended_name": {
        "id": "DOID:0080038",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080038",
        "name": "pycnodysostosis",
        "description": "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges."
    },
    "synonyms": [
        {
            "id": "MONDO:0009940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009940",
            "name": "pycnodysostosis",
            "description": "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery."
        },
        {
            "id": "MONDO:0009940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009940",
            "name": "Pyknodysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0009940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009940",
            "name": "pycnodysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0009940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009940",
            "name": "PKND",
            "description": ""
        },
        {
            "id": "MIM:265800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/265800",
            "name": "Pycnodysostosis",
            "description": "Pycnodysostosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080038"
    ],
    "unlinked_id_list": []
}