{
    "disease_id": "DOID:0080734",
    "recommended_name": {
        "id": "DOID:0080734",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080734",
        "name": "Ehlers-Danlos syndrome kyphoscoliotic type 1",
        "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 globeand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type",
            "description": "Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility."
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type VIA",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS 6 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "kEDS",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome type 6A",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome kyphoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS VIA",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "kyphoscoliotic EDS",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "nevo syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome oculoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome type 6 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, ocular-scoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS, kyphoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type 6 A",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type Via, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, kyphoscoliosis type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, oculoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type Via",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type VI",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 1; EDSKSCL1",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome type 6A (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDSKSCL1",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS6",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "kyphoscoliotic Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS, oculoscoliotic type",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS 6",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type VI; EDS6",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS6A, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "Ehlers-Danlos syndrome, type VIA, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0016002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016002",
            "name": "EDS VI",
            "description": ""
        },
        {
            "id": "MIM:225400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225400",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 1",
            "description": "Ehlers-Danlos syndrome, kyphoscoliotic type, 1"
        }
    ]
}