{
    "disease_id": "DOID:0050812",
    "recommended_name": {
        "id": "DOID:0050812",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050812",
        "name": "spondyloepimetaphyseal dysplasia, Pakistani type",
        "description": "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."
    },
    "synonyms": [
        {
            "id": "DOID:0050812",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050812",
            "name": "spondyloepimetaphyseal dysplasia Pakistani type",
            "description": ""
        },
        {
            "id": "MONDO:0013019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013019",
            "name": "spondyloepimetaphyseal dysplasia, Pakistani type",
            "description": "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."
        },
        {
            "id": "MONDO:0013019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013019",
            "name": "SEMD, Pakistani type",
            "description": ""
        },
        {
            "id": "MONDO:0013019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013019",
            "name": "BCYM4",
            "description": ""
        },
        {
            "id": "MONDO:0013019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013019",
            "name": "spondyloepimetaphyseal dysplasia, Pakistani type",
            "description": ""
        },
        {
            "id": "MONDO:0013019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013019",
            "name": "brachyolmia type 4 with mild epiphyseal and metaphyseal changes",
            "description": ""
        },
        {
            "id": "MONDO:0013019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013019",
            "name": "spondyloepimetaphyseal dysplasia Pakistani type",
            "description": ""
        },
        {
            "id": "MONDO:0013019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013019",
            "name": "spondylodysplasia and premature pubarche",
            "description": ""
        },
        {
            "id": "MONDO:0013019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013019",
            "name": "brachyolmia type 4 with mild epiphyseal and metaphyseal changes; BCYM4",
            "description": ""
        },
        {
            "id": "MIM:612847",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612847",
            "name": "Brachyolmia type 4 with mild epiphyseal and metaphyseal changes",
            "description": "Brachyolmia type 4 with mild epiphyseal and metaphyseal changes"
        }
    ]
}