{
    "disease_id": "DOID:0070059",
    "recommended_name": {
        "id": "DOID:0070059",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070059",
        "name": "autosomal dominant intellectual developmental disorder 29",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070059",
            "name": "MRD29",
            "description": ""
        },
        {
            "id": "DOID:0070059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070059",
            "name": "autosomal dominant mental retardation 29",
            "description": ""
        },
        {
            "id": "DOID:0070059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070059",
            "name": "autosomal dominant non-syndromic intellectual disability 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "intellectual disability, autosomal dominant 29",
            "description": "Any autosomal dominant complex neurodevelopmental disorder caused by haploinsufficiency and/or loss-of-function variants in the SETBP1 gene and characterized by intellectual disability, autism, speech difficulty, motor and developmental delays, seizures, hypotonia, behavior challenges, and facial dysmorphisms."
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "MRD29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1 Haploinsufficiency Disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1-related complex neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "autosomal dominant intellectual disability 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "autosomal dominant mental retardation 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "intellectual disability, autosomal dominant type 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "mental retardation, autosomal dominant type 29",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1 disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1 related developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "SETBP1-related intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014482",
            "name": "mental retardation, autosomal dominant 29",
            "description": ""
        },
        {
            "id": "MIM:616078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616078",
            "name": "Intellectual developmental disorder, autosomal dominant 29",
            "description": "Intellectual developmental disorder, autosomal dominant 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070059"
    ],
    "unlinked_id_list": []
}