{
    "disease_id": "DOID:0080735",
    "recommended_name": {
        "id": "DOID:0080735",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080735",
        "name": "Ehlers-Danlos syndrome kyphoscoliotic type 2",
        "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2",
            "description": "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment."
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDS with progressive kyphoscoliosis, myopathy, and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDS with progressive kyphoscoliosis, myopathy, and hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDS, kyphoscoliotic and hearing loss type",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDSKMH",
            "description": ""
        },
        {
            "id": "MONDO:0013800",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013800",
            "name": "EDSKSCL2",
            "description": ""
        },
        {
            "id": "MIM:614557",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614557",
            "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2",
            "description": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080735"
    ],
    "unlinked_id_list": []
}