{
    "disease_id": "DOID:0070058",
    "recommended_name": {
        "id": "DOID:0070058",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070058",
        "name": "Helsmoortel-Van Der Aa Syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0070058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070058",
            "name": "HVDAS",
            "description": ""
        },
        {
            "id": "DOID:0070058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070058",
            "name": "MRD28",
            "description": ""
        },
        {
            "id": "DOID:0070058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070058",
            "name": "autosomal dominant mental retardation 28",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder",
            "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13."
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "ADNP Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "ADNP syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "HVDAS",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "Helsmoortel-Van der Aa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "autosomal dominant intellectual disability 28",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "mental retardation, autosomal dominant 28",
            "description": ""
        },
        {
            "id": "MIM:615873",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615873",
            "name": "Helsmoortel-van der Aa syndrome",
            "description": "Helsmoortel-van der Aa syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070058"
    ],
    "unlinked_id_list": []
}