{
    "disease_id": "DOID:0080736",
    "recommended_name": {
        "id": "DOID:0080736",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080736",
        "name": "Ehlers-Danlos syndrome musculocontractural type 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "Arthrogryposis, Distal, with peculiar facies and hydronephrosis",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "Ehlers-Danlos syndrome, type Vib",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "adducted thumb-clubfoot syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "EDSMC",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "Dundar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "EDSMC1",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "Ehlers-Danlos syndrome, musculocontractural type, 1; EDSMC1",
            "description": ""
        },
        {
            "id": "MONDO:0020681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020681",
            "name": "Ehlers-Danlos syndrome, type Vib, formerly",
            "description": ""
        },
        {
            "id": "MIM:601776",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601776",
            "name": "Ehlers-Danlos syndrome, musculocontractural type 1",
            "description": "Ehlers-Danlos syndrome, musculocontractural type 1"
        }
    ]
}