{
    "disease_id": "DOID:0080734", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, type VIA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "EDS 6 (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "kEDS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome type 6A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome kyphoscoliotic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "EDS VIA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "kyphoscoliotic EDS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "nevo syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome oculoscoliotic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome type 6 (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, ocular-scoliotic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "EDS, kyphoscoliotic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, type 6 A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, type Via, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, kyphoscoliosis type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, oculoscoliotic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, type VI"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 1; EDSKSCL1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome type 6A (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "EDSKSCL1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "EDS6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "kyphoscoliotic Ehlers-Danlos syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "EDS, oculoscoliotic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "EDS 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, type VI; EDS6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "Ehlers-Danlos syndrome, type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "EDS6A, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0016002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0016002", 
            "name": "EDS VI"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080734", 
        "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\nand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080734", 
        "name": "Ehlers-Danlos syndrome kyphoscoliotic type 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080734#disease-associations", 
            "id": "0080734", 
            "database": "Alliance of Genome Resources"
        }
    ]
}