{
    "disease_id": "DOID:0070061",
    "recommended_name": {
        "id": "DOID:0070061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070061",
        "name": "autosomal dominant intellectual developmental disorder 31",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070061",
            "name": "MRD31",
            "description": ""
        },
        {
            "id": "DOID:0070061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070061",
            "name": "autosomal dominant mental retardation 31",
            "description": ""
        },
        {
            "id": "DOID:0070061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070061",
            "name": "autosomal dominant non-syndromic intellectual disability 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation",
            "description": "A rare, genetic neurological disease in which the cause of the disease is a point mutation in the PURA gene. It is typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy."
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "MRD31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "PURA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "autosomal dominant intellectual disability 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "intellectual disability, autosomal dominant type 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "mental retardation, autosomal dominant type 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "intellectual disability, autosomal dominant 31",
            "description": ""
        },
        {
            "id": "MONDO:0014512",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014512",
            "name": "mental retardation, autosomal dominant 31",
            "description": ""
        },
        {
            "id": "MIM:616158",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616158",
            "name": "Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties",
            "description": "Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070061"
    ],
    "unlinked_id_list": []
}