{
    "disease_id": "DOID:0070049",
    "recommended_name": {
        "id": "DOID:0070049",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070049",
        "name": "autosomal dominant intellectual developmental disorder 19",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070049",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070049",
            "name": "MRD19",
            "description": ""
        },
        {
            "id": "DOID:0070049",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070049",
            "name": "autosomal dominant mental retardation 19",
            "description": ""
        },
        {
            "id": "DOID:0070049",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070049",
            "name": "autosomal dominant non-syndromic intellectual disability 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "severe intellectual disability-progressive spastic diplegia syndrome",
            "description": "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person."
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "CTNNB1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "MRD19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "autosomal dominant intellectual disability 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "intellectual disability, autosomal dominant type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "mental retardation, autosomal dominant type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "neurodevelopmental disorder with spastic diplegia and visual defects",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "severe intellectual disability-progressive spastic diplegia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "CTNNB1-related intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "intellectual disability, autosomal dominant 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "mental retardation, autosomal dominant 19",
            "description": ""
        },
        {
            "id": "MIM:615075",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615075",
            "name": "Neurodevelopmental disorder with spastic diplegia and visual defects",
            "description": "Neurodevelopmental disorder with spastic diplegia and visual defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070049"
    ],
    "unlinked_id_list": []
}