{
    "disease_id": "DOID:0060826",
    "recommended_name": {
        "id": "DOID:0060826",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060826",
        "name": "syndromic X-linked intellectual disability Shashi type",
        "description": "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0060826",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060826",
            "name": "MRXS11",
            "description": ""
        },
        {
            "id": "DOID:0060826",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060826",
            "name": "SMRXS",
            "description": ""
        },
        {
            "id": "DOID:0060826",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060826",
            "name": "Shashi X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060826",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060826",
            "name": "X-linked mental retardation Shashi type",
            "description": ""
        },
        {
            "id": "DOID:0060826",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060826",
            "name": "syndromic X-linked intellectual disability type 11",
            "description": ""
        },
        {
            "id": "DOID:0060826",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060826",
            "name": "mental retardation, X-linked, syndromic 11, Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "syndromic X-linked intellectual disability Shashi type",
            "description": "X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome."
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "MRXS11",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "SMRXS",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "Shashi X-linked intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "Shashi X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "X-linked intellectual disability Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "X-linked mental retardation Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "intellectual disability, X-linked, syndromic 11, Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "mental retardation, X-linked, syndromic 11, Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "syndromic X-linked intellectual disability type 11",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "X-linked intellectual disability, Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "intellectual disability X-linked Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "intellectual disability X-linked syndromic 11",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "intellectual disability, X-linked, Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "intellectual disability, X-linked, syndromic 11",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "mental retardation X-linked Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "mental retardation X-linked syndromic 11",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "mental retardation, X-linked, Shashi type",
            "description": ""
        },
        {
            "id": "MONDO:0010277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010277",
            "name": "mental retardation, X-linked, syndromic 11",
            "description": ""
        },
        {
            "id": "MIM:300238",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300238",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Shashi type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Shashi type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060826"
    ],
    "unlinked_id_list": []
}