{
    "disease_id": "DOID:0070067",
    "recommended_name": {
        "id": "DOID:0070067",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070067",
        "name": "White-Sutton syndrome",
        "description": "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of POGZ on chromosome 1q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070067",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070067",
            "name": "MRD37",
            "description": ""
        },
        {
            "id": "DOID:0070067",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070067",
            "name": "WHSUS",
            "description": ""
        },
        {
            "id": "DOID:0070067",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070067",
            "name": "autosomal dominant mental retardation 37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
            "description": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)."
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "WHITE-Sutton syndrome; WHSUS",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "WHSUS",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "mental retardation, autosomal dominant 37; MRD37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "MRD37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "mental retardation, autosomal dominant 37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "White-Sutton syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "autosomal dominant mental retardation 37",
            "description": ""
        },
        {
            "id": "MONDO:0014606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014606",
            "name": "mental retardation, autosomal dominant type 37",
            "description": ""
        },
        {
            "id": "MIM:616364",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616364",
            "name": "White-Sutton syndrome",
            "description": "White-Sutton syndrome"
        }
    ]
}