{
    "disease_id": "DOID:0090116", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "spondylocarpotarsal syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "spondylocarpotarsal synostosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "SCT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "Synspondylism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "congenital scoliosis with unilateral unsegmented bar"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "spondylocarpotarsal synostosis syndrome; SCT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "Synspondylism congenital"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "Synspondylism, congenital"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "scoliosis, congenital, with unilateral unsegmented Bar"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "congenital synspondylism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "vertebral fusion with carpal coalition"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010094", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010094", 
            "name": "scoliosis, congenital with unilateral unsegmented bar"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090116", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090116", 
            "name": "congenital scoliosis with unilateral unsegmented bar"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090116", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090116", 
            "name": "SCT"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090116", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090116", 
            "name": "congenital synspondylism"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090116", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090116", 
            "name": "spondylocarpotarsal syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090116", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090116", 
            "name": "spondylocarpotarsal synostosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090116", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090116", 
            "name": "vertebral fusion with carpal coalition"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090116", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090116", 
        "name": "spondylocarpotarsal synostosis syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090116#disease-associations", 
            "id": "0090116", 
            "database": "Alliance of Genome Resources"
        }
    ]
}