{
    "disease_id": "DOID:0111553",
    "recommended_name": {
        "id": "DOID:0111553",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111553",
        "name": "spondyloepiphyseal dysplasia Maroteaux type",
        "description": "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111553",
            "name": "Brachyolmia Type 2",
            "description": ""
        },
        {
            "id": "DOID:0111553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111553",
            "name": "Pseudo-Morquio syndrome type 2",
            "description": ""
        },
        {
            "id": "DOID:0111553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111553",
            "name": "SED, Maroteaux type",
            "description": ""
        },
        {
            "id": "DOID:0111553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111553",
            "name": "spondyloepiphyseal dysplasia of Maroteaux",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "spondyloepimetaphyseal dysplasia, Maroteaux type",
            "description": "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis."
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "SED, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "pseudo-Morquio syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "spondyloepimetaphyseal dysplasia, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "spondyloepiphyseal dysplasia Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "spondyloepiphyseal dysplasia, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "brachyolmia Maroteaux type",
            "description": ""
        },
        {
            "id": "MIM:184095",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/184095",
            "name": "Spondyloepiphyseal dysplasia, Maroteaux type",
            "description": "Spondyloepiphyseal dysplasia, Maroteaux type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111553"
    ],
    "unlinked_id_list": []
}