{
    "disease_id": "DOID:0070064",
    "recommended_name": {
        "id": "DOID:0070064",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070064",
        "name": "autosomal dominant intellectual developmental disorder 34",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070064",
            "name": "MRD34",
            "description": ""
        },
        {
            "id": "DOID:0070064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070064",
            "name": "autosomal dominant mental retardation 34",
            "description": ""
        },
        {
            "id": "DOID:0070064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070064",
            "name": "autosomal dominant non-syndromic intellectual disability 34",
            "description": ""
        },
        {
            "id": "DOID:0070064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070064",
            "name": "neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "intellectual disability, autosomal dominant 34",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene."
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "COL4A3BP autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "MRD34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "autosomal dominant intellectual disability 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "intellectual developmental disorder, autosomal dominant 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "intellectual disability, autosomal dominant 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "intellectual disability, autosomal dominant type 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "mental retardation, autosomal dominant type 34",
            "description": ""
        },
        {
            "id": "MONDO:0014599",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014599",
            "name": "mental retardation, autosomal dominant 34",
            "description": ""
        },
        {
            "id": "MIM:616351",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616351",
            "name": "Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies",
            "description": "Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070064"
    ],
    "unlinked_id_list": []
}