{
    "disease_id": "DOID:0070051",
    "recommended_name": {
        "id": "DOID:0070051",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070051",
        "name": "autosomal dominant intellectual developmental disorder 21",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070051",
            "name": "MRD21",
            "description": ""
        },
        {
            "id": "DOID:0070051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070051",
            "name": "autosomal dominant mental retardation 21",
            "description": ""
        },
        {
            "id": "DOID:0070051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070051",
            "name": "autosomal dominant non-syndromic intellectual disability 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "CTCF-related neurodevelopmental disorder",
            "description": "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss."
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "MRD21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "intellectual development disorder, autosomal dominant 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "intellectual disability, autosomal dominant 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "intellectual disability, autosomal dominant type 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "mental retardation, autosomal dominant 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "mental retardation, autosomal dominant type 21",
            "description": ""
        },
        {
            "id": "MIM:615502",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615502",
            "name": "Intellectual developmental disorder, autosomal dominant 21",
            "description": "Intellectual developmental disorder, autosomal dominant 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070051"
    ],
    "unlinked_id_list": []
}