{
    "disease_id": "DOID:0111845",
    "recommended_name": {
        "id": "DOID:0111845",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111845",
        "name": "Mullegama-Klein-Martinez syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in STAG2 on chromosome Xq25."
    },
    "synonyms": [
        {
            "id": "DOID:0111845",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111845",
            "name": "NEDXCF",
            "description": ""
        },
        {
            "id": "DOID:0111845",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111845",
            "name": "MKMS",
            "description": ""
        },
        {
            "id": "DOID:0111845",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111845",
            "name": "X-linked neurodevelopmental disorder with craniofacial abnormalities",
            "description": ""
        },
        {
            "id": "MIM:301022",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301022",
            "name": "Mullegama-Klein-Martinez syndrome",
            "description": "Mullegama-Klein-Martinez syndrome"
        }
    ]
}