{
    "disease_id": "DOID:0112149",
    "recommended_name": {
        "id": "DOID:0112149",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112149",
        "name": "terminal osseous dysplasia",
        "description": "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0112149",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112149",
            "name": "ODPD",
            "description": ""
        },
        {
            "id": "DOID:0112149",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112149",
            "name": "ODPF syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112149",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112149",
            "name": "TOD",
            "description": ""
        },
        {
            "id": "DOID:0112149",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112149",
            "name": "TODPD",
            "description": ""
        },
        {
            "id": "DOID:0112149",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112149",
            "name": "terminal osseous dysplasia-pigmentary defects syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112149",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112149",
            "name": "digital osseous dysplasia with facial pigmentary defects and multiple frenula",
            "description": ""
        },
        {
            "id": "MONDO:0010279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010279",
            "name": "terminal osseous dysplasia-pigmentary defects syndrome",
            "description": "A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis."
        },
        {
            "id": "MONDO:0010279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010279",
            "name": "terminal osseous dysplasia, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010279",
            "name": "Odpd",
            "description": ""
        },
        {
            "id": "MONDO:0010279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010279",
            "name": "Odpf syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010279",
            "name": "TOD",
            "description": ""
        },
        {
            "id": "MONDO:0010279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010279",
            "name": "osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula",
            "description": ""
        },
        {
            "id": "MONDO:0010279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010279",
            "name": "terminal osseous dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010279",
            "name": "terminal osseous dysplasia and pigmentary defects",
            "description": ""
        },
        {
            "id": "MIM:300244",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300244",
            "name": "Terminal osseous dysplasia",
            "description": "Terminal osseous dysplasia"
        }
    ]
}