{
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    "recommended_name": {
        "id": "DOID:0060811",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060811",
        "name": "syndromic X-linked intellectual disability Turner type",
        "description": "A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22."
    },
    "synonyms": [
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        {
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            "name": "intellectual disability, X-linked syndromic, Turner type",
            "description": "An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant."
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        {
            "id": "MONDO:0010407",
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        {
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            "description": "Intellectual developmental disorder, X-linked, syndromic, Turner type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060811"
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    "unlinked_id_list": []
}