{
    "disease_id": "DOID:0070049",
    "recommended_name": {
        "id": "DOID:0070049",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070049",
        "name": "autosomal dominant non-syndromic intellectual disability 19",
        "description": "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070049",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070049",
            "name": "MRD19",
            "description": ""
        },
        {
            "id": "DOID:0070049",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070049",
            "name": "autosomal dominant mental retardation 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": "MRD19",
            "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": "intellectual disability, autosomal dominant 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "autosomal dominant mental retardation 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "mental retardation, autosomal dominant 19",
            "description": ""
        },
        {
            "id": "MONDO:0014035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014035",
            "name": "autosomal dominant non-syndromic intellectual disability 19",
            "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": "mental retardation, autosomal dominant 19; MRD19",
            "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"
        }
    ]
}