{
    "disease_id": "DOID:0081097",
    "recommended_name": {
        "id": "DOID:0081097",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081097",
        "name": "Rafiq syndrome",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0081097",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081097",
            "name": "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "Rafiq syndrome",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene."
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "CDG2U",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "MAN1B1 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "RAFQS",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "intellectual disability, autosomal recessive 15",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "mental retardation, autosomal recessive 15",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "mental retardation, autosomal recessive type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013624",
            "name": "MRT15",
            "description": ""
        },
        {
            "id": "MIM:614202",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614202",
            "name": "Rafiq syndrome",
            "description": "Rafiq syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081097"
    ],
    "unlinked_id_list": []
}