{
    "disease_id": "DOID:0080982",
    "recommended_name": {
        "id": "DOID:0080982",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080982",
        "name": "X-linked intellectual disability-hypotonic facies syndrome-1",
        "description": "A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. This now comprises several syndromes previously reported separately, including Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Smith-Fineman-Myers syndrome."
    },
    "synonyms": [
        {
            "id": "DOID:0080982",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080982",
            "name": "X-linked mental retardation-hypotonic facies syndrome-1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability-hypotonic facies syndrome, X-linked, 1",
            "description": "A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features."
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Carpenter-Waziri syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley Lowry Hoar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley-Lowry syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley-Lowry-Hoar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Holmes-Gang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "MRXHF1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "SFMS",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Smith-Fineman-Myers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "X-linked intellectual disability-hypotonic face syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "XLMR-hypotonic facies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability-hypotonic facies syndrome, X-linked, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability-hypotonic facies syndrome, X-linked, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation-hypotonic facies syndrome, X-linked, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Juberg Marsidi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Juberg-Marsidi mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Juberg-Marsidi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Chudley syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "JMS",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "SFM1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "Smith Fineman Myers syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "X-linked hypogonadism gynecomastia intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "X-linked hypogonadism gynecomastia mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability Smith Fineman Myers type",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "intellectual disability-hypotonic facies syndrome X-linked, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation Smith Fineman Myers type",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation, X-linked, with growth retardation, deafness, and microgenitalism",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation-hypotonic facies syndrome X-linked, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retardation-hypotonic facies syndrome, X-linked, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "name": "mental retradation, X-linked with Growth delay, deafness, microgenitalism",
            "description": ""
        },
        {
            "id": "MIM:309580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309580",
            "name": "Intellectual disability-hypotonic facies syndrome, X-linked, 1",
            "description": "Intellectual disability-hypotonic facies syndrome, X-linked, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080982"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080982",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080982",
            "categories": []
        },
        {
            "id": "MONDO:0010663",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010663",
            "categories": []
        },
        {
            "id": "MIM:309580",
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            "url": "https://www.omim.org/entry/309580",
            "categories": []
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        {
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            "uniprot_ac": "A0A8M9QKH6",
            "uniprot_id": "A0A8M9QKH6_DANRE",
            "refseq_ac": "XP_021336651",
            "glycoprotein": "yes",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase ATRX",
                    "type": "synonym"
                },
                {
                    "name": "X-linked nuclear protein",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional regulator ATRX isoform X1",
                    "type": "synonym"
                }
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                    "name": "atrx",
                    "type": "recommended"
                },
                {
                    "name": "atrxl",
                    "type": "synonym"
                },
                {
                    "name": "atrx",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb26e12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb52h08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb72g09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb94e07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66223",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QKH6-1",
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                    "id": "0080982",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080982"
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            "uniprot_canonical_ac": "Q61687-1",
            "uniprot_ac": "Q61687",
            "uniprot_id": "ATRX_MOUSE",
            "refseq_ac": "NP_033556",
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            "species": [
                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Chromatin remodeler ATRX",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase ATRX",
                    "type": "synonym"
                },
                {
                    "name": "HP1 alpha-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "HP1-BP38 protein",
                    "type": "synonym"
                },
                {
                    "name": "Heterochromatin protein 2",
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                    "name": "Transcriptional regulator ATRX",
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            ],
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                    "name": "4833408C14Rik",
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                },
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                    "name": "Hp1bp2",
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                    "name": "Hp1bp38",
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                {
                    "name": "MRXS3",
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                    "name": "RAD54L",
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                },
                {
                    "name": "Rad54",
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            "uniprot_canonical_ac": "P46100-1",
            "uniprot_ac": "P46100",
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            "refseq_ac": "NP_000480",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                    "type": "synonym"
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                {
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                    "type": "synonym"
                },
                {
                    "name": "X-linked helicase II",
                    "type": "synonym"
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                {
                    "name": "X-linked nuclear protein",
                    "type": "synonym"
                },
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                    "name": "XNP",
                    "type": "synonym"
                },
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                    "name": "Znf-HX",
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                    "type": "synonym"
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                    "id": "0080982",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "id": "0080982",
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            "uniprot_ac": "Q9GQN5",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
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                    "name": "Chromatin remodeler ATRX homolog",
                    "type": "recommended"
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                    "name": "EP(3)0635",
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                    "name": "xnp/atr-x",
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                    "id": "0080982",
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                }
            ]
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080982"
}