{
    "disease_id": "DOID:0090116",
    "recommended_name": {
        "id": "DOID:0090116",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090116",
        "name": "spondylocarpotarsal synostosis syndrome",
        "description": "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090116",
            "name": "congenital scoliosis with unilateral unsegmented bar",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090116",
            "name": "SCT",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090116",
            "name": "congenital synspondylism",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090116",
            "name": "spondylocarpotarsal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090116",
            "name": "spondylocarpotarsal synostosis",
            "description": ""
        },
        {
            "id": "DOID:0090116",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090116",
            "name": "vertebral fusion with carpal coalition",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "spondylocarpotarsal synostosis syndrome",
            "description": "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism."
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "SCT",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "Synspondylism",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "congenital scoliosis with unilateral unsegmented bar",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "congenital synspondylism",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "spondylocarpotarsal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "spondylocarpotarsal synostosis",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "spondylocarpotarsal synostosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "vertebral fusion with carpal coalition",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "Synspondylism congenital",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "Synspondylism, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "scoliosis, congenital with unilateral unsegmented bar",
            "description": ""
        },
        {
            "id": "MONDO:0010094",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010094",
            "name": "scoliosis, congenital, with unilateral unsegmented Bar",
            "description": ""
        },
        {
            "id": "MIM:272460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/272460",
            "name": "Spondylocarpotarsal synostosis syndrome",
            "description": "Spondylocarpotarsal synostosis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090116"
    ],
    "unlinked_id_list": []
}