{
    "disease_id": "DOID:0060813",
    "recommended_name": {
        "id": "DOID:0060813",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060813",
        "name": "syndromic X-linked intellectual disability Shrimpton type",
        "description": "A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0060813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060813",
            "name": "MRXS9",
            "description": ""
        },
        {
            "id": "DOID:0060813",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060813",
            "name": "mental retardation, X-linked, syndromic 9",
            "description": ""
        },
        {
            "id": "MONDO:0010409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010409",
            "name": "syndromic X-linked intellectual disability Shrimpton type",
            "description": "X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome."
        },
        {
            "id": "MONDO:0010409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010409",
            "name": "mental retardation, X-linked, syndromic 9",
            "description": ""
        },
        {
            "id": "MONDO:0010409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010409",
            "name": "X-linked intellectual disability, Shrimpton type",
            "description": ""
        },
        {
            "id": "MONDO:0010409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010409",
            "name": "mental retardation, X-linked, syndromic 9; MRXS9",
            "description": ""
        },
        {
            "id": "MONDO:0010409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010409",
            "name": "MRXS9",
            "description": ""
        }
    ]
}