{
    "disease_id": "DOID:0081216",
    "recommended_name": {
        "id": "DOID:0081216",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081216",
        "name": "autosomal recessive intellectual developmental disorder 54",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "intellectual disability, autosomal recessive 54",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene."
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "MRT54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "TNIK autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "intellectual developmental disorder 54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "intellectual disability, autosomal recessive 54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "intellectual disability, autosomal recessive type 54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "mental retardation, autosomal recessive 54",
            "description": ""
        },
        {
            "id": "MONDO:0014876",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014876",
            "name": "mental retardation, autosomal recessive type 54",
            "description": ""
        },
        {
            "id": "MIM:617028",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617028",
            "name": "Intellectual developmental disorder, autosomal recessive 54",
            "description": "Intellectual developmental disorder, autosomal recessive 54"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081216"
    ],
    "unlinked_id_list": []
}