{
    "disease_id": "DOID:0060811",
    "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": [
        {
            "id": "DOID:0060811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060811",
            "name": "mental retardation, X-linked syndromic, Turner type",
            "description": ""
        },
        {
            "id": "DOID:0060811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060811",
            "name": "Brooks-Wisniewski-Brown syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060811",
            "name": "MRXST",
            "description": ""
        },
        {
            "id": "DOID:0060811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060811",
            "name": "X-linked intellectual disability, Brooks type",
            "description": ""
        },
        {
            "id": "DOID:0060811",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060811",
            "name": "mental retardation and macrocephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "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."
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "Brooks Wisniewski Brown syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "Brooks-Wisniewski-Brown Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "Brooks-Wisniewski-Brown syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "MRXST",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "X-linked intellectual disability, Turner type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "intellectual disability, X-linked syndromic, Turner type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "mental retardation and macrocephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "mental retardation, X-linked, syndromic, Turner type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "X-linked mental retardation Brooks type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
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            "name": "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "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."
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "Brooks Wisniewski Brown syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "Brooks-Wisniewski-Brown Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "Brooks-Wisniewski-Brown syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "MRXST",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "X-linked intellectual disability, Turner type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "intellectual disability, X-linked syndromic, Turner type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "mental retardation and macrocephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "mental retardation, X-linked, syndromic, Turner type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "X-linked mental retardation Brooks type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
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            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
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            "name": "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "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."
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "Brooks Wisniewski Brown syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "Brooks-Wisniewski-Brown Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "Brooks-Wisniewski-Brown syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
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        },
        {
            "id": "MONDO:0010407",
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        },
        {
            "id": "MONDO:0010407",
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            "description": ""
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            "id": "MONDO:0010407",
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        },
        {
            "id": "MONDO:0010407",
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            "name": "mental retardation, X-linked, syndromic, Turner type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
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            "name": "X-linked mental retardation Brooks type",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "name": "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism",
            "description": ""
        },
        {
            "id": "MONDO:0010407",
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        {
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            "description": ""
        },
        {
            "id": "MIM:309590",
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            "url": "https://www.omim.org/entry/309590",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Turner type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Turner type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060811"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060811",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060811",
            "categories": []
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0010407",
            "categories": []
        },
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        }
    ],
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        {
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            "uniprot_ac": "A0A8M2B960",
            "uniprot_id": "A0A8M2B960_DANRE",
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                    "common_name": "Zebrafish",
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                    "reference_species": "Danio rerio [7955]"
                }
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                {
                    "name": "Upstream regulatory element-binding protein 1",
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                }
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                },
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                    "name": "sb:eu595",
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                    "name": "sb:eu633",
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                    "name": "sb:eu703",
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                {
                    "name": "si:dkey-242a8.2",
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                }
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                    "name": "E3Histone",
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                    "name": "C430014N20Rik",
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                    "name": "Gm1718",
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                {
                    "name": "Ib772",
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                    "name": "Kiaa0312",
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                    "name": "LASU1",
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                    "name": "Ureb1",
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                    "id": "0060811",
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                    "taxid": 9606,
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                }
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                {
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
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                    "name": "Temperature-dependent organization in mitotic nucleus protein 1",
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                    "id": "0060811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51593-1",
            "uniprot_ac": "P51593",
            "uniprot_id": "HUWE1_RAT",
            "refseq_ac": "XP_063136284",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1 isoform X6",
                    "type": "synonym"
                },
                {
                    "name": "HECT, UBA and WWE domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HUWE1",
                    "type": "synonym"
                },
                {
                    "name": "URE-B1",
                    "type": "synonym"
                },
                {
                    "name": "URE-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Upstream regulatory element-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Huwe1",
                    "type": "recommended"
                },
                {
                    "name": "Huwe1",
                    "type": "synonym"
                },
                {
                    "name": "URE-B1",
                    "type": "synonym"
                },
                {
                    "name": "Ureb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51593-1",
            "evidence": [
                {
                    "id": "0060811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060811"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JF73-1",
            "uniprot_ac": "X2JF73",
            "uniprot_id": "X2JF73_DROME",
            "refseq_ac": "NP_001285288",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "HECT-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "CG8184-PH",
                    "type": "synonym"
                },
                {
                    "name": "HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "HUWE1-PH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HUWE1",
                    "type": "recommended"
                },
                {
                    "name": "CG8184",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8184",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8184",
                    "type": "synonym"
                },
                {
                    "name": "HUWE1",
                    "type": "synonym"
                },
                {
                    "name": "Huwe1",
                    "type": "synonym"
                },
                {
                    "name": "URE-B1/CG8184",
                    "type": "synonym"
                },
                {
                    "name": "dHUWE1",
                    "type": "synonym"
                },
                {
                    "name": "huwe1",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JF73-1",
            "evidence": [
                {
                    "id": "0060811",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060811"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060811"
}