{
    "disease_id": "DOID:0070056",
    "recommended_name": {
        "id": "DOID:0070056",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070056",
        "name": "autosomal dominant non-syndromic intellectual disability 26",
        "description": "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AUTS2 on chromosome 7q11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0070056",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070056",
            "name": "MRD26",
            "description": ""
        },
        {
            "id": "DOID:0070056",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070056",
            "name": "autosomal dominant mental retardation 26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "autism spectrum disorder due to AUTS2 deficiency",
            "description": "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures."
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "mental retardation, autosomal dominant 26; MRD26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "MRD26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "mental retardation, autosomal dominant 26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "autosomal dominant non-syndromic intellectual disability 26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "mental retardation, autosomal dominant type 26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "ASD due to AUTS2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "autosomal dominant mental retardation 26",
            "description": ""
        },
        {
            "id": "MONDO:0014361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014361",
            "name": "AUTS2 syndrome",
            "description": ""
        },
        {
            "id": "MIM:615834",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615834",
            "name": "Intellectual developmental disorder, autosomal dominant 26",
            "description": "Intellectual developmental disorder, autosomal dominant 26"
        }
    ]
}