{
    "disease_id": "DOID:0112056",
    "recommended_name": {
        "id": "DOID:0112056",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112056",
        "name": "X-linked intellectual disability-short stature-overweight syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25."
    },
    "synonyms": [
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "MRX12",
            "description": ""
        },
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "MRX35",
            "description": ""
        },
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "X-linked mental retardation 12",
            "description": ""
        },
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "X-linked mental retardation 35",
            "description": ""
        },
        {
            "id": "DOID:0112056",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112056",
            "name": "Kumar type of X-linked syndromic intellectual developmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "X-linked intellectual disability-short stature-overweight syndrome",
            "description": "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted."
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "intellectual developmental disorder, X-linked 12, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "intellectual disability, X-linked type 12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "mental retardation, X-linked type 12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "MRX12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "intellectual disability, X-linked 12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "mental retardation, X-linked 12",
            "description": ""
        },
        {
            "id": "MONDO:0010496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010496",
            "name": "mental retardation, X-linked 35",
            "description": ""
        },
        {
            "id": "MIM:300957",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300957",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Kumar type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Kumar type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112056"
    ],
    "unlinked_id_list": []
}