{
    "disease_id": "DOID:0070300",
    "recommended_name": {
        "id": "DOID:0070300",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070300",
        "name": "multiple epiphyseal dysplasia 4",
        "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "EDM4",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "MED4",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "Polyepiphyseal dysplasia type 4",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "multiple epiphyseal dysplasia with clubfoot",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "rMED",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "multiple epiphyseal dysplasia with bilateral patellae",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "multiple epiphyseal dysplasia type 4",
            "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum."
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "EDM4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "MED4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "Polyepiphyseal dysplasia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "Recessive Multiple Epiphyseal Dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "SLC26A2 multiple epiphyseal dysplasia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "autosomal recessive multiple epiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "epiphyseal dysplasia, multiple, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "rMED",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "epiphyseal dysplasia multiple 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "epiphyseal dysplasia, multiple, 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "multiple epiphyseal dysplasia 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "multiple epiphyseal dysplasia with double-layered patella",
            "description": ""
        },
        {
            "id": "MIM:226900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226900",
            "name": "Multiple epiphyseal dysplasia 4",
            "description": "Multiple epiphyseal dysplasia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070300"
    ],
    "unlinked_id_list": []
}