{
    "disease_id": "DOID:0060815",
    "recommended_name": {
        "id": "DOID:0060815",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060815",
        "name": "Wieacker-Wolff syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060815",
            "name": "MCS",
            "description": ""
        },
        {
            "id": "DOID:0060815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060815",
            "name": "MRXS4",
            "description": ""
        },
        {
            "id": "DOID:0060815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060815",
            "name": "mental retardation, X-linked, syndromic 4",
            "description": ""
        },
        {
            "id": "DOID:0060815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060815",
            "name": "X-linked intellectual disability, Miles-Carpenter type",
            "description": ""
        },
        {
            "id": "DOID:0060815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060815",
            "name": "mental retardation, X-linked, with congenital contractures and low fingertip arches",
            "description": ""
        },
        {
            "id": "DOID:0060815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060815",
            "name": "Miles-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060815",
            "name": "WRWF",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "Wieacker-Wolff syndrome",
            "description": "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability."
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "MCS",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "MRXS4",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "Miles-CARPENTER X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "Miles-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "WRWF",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "WRWFXLR",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "Wieacker Wolff syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "Wieacker syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "Wieacker-Wolff syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "Wieacker-Wolff syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "Wieacker-Wolff syndrome, X-linked recessive",
            "description": ""
        },
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            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "X-linked intellectual disability, Miles-Carpenter type",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "ZC4H2-Associated Rare Disorders (ZARD)",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "apraxia, oculomotor, with congenital contractures and muscle atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "contractures of feet, muscle atrophy, and oculomotor apraxia",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "foot contractures-muscle atrophy-oculomotor apraxia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "intellectual disability-developmental delay-contractures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "mental retardation, X-linked, syndromic 4",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "mental retardation, X-linked, with congenital contractures and Low fingertip arches",
            "description": ""
        },
        {
            "id": "MONDO:0010758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "name": "mental retardation, X-linked, with congenital contractures and low fingertip arches",
            "description": ""
        },
        {
            "id": "MIM:314580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/314580",
            "name": "Wieacker-Wolf syndrome",
            "description": "Wieacker-Wolf syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060815"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060815",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060815",
            "categories": []
        },
        {
            "id": "MONDO:0010758",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010758",
            "categories": []
        },
        {
            "id": "MIM:314580",
            "database": "MIM",
            "url": "https://www.omim.org/entry/314580",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q7T3I0",
            "uniprot_id": "ZC4H2_DANRE",
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            "glycoprotein": "no",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Zinc finger C4H2 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "Hepatocellular carcinoma-associated antigen 127 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocellular carcinoma-associated antigen 127-like",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma-associated antigen 127 homolog",
                    "type": "synonym"
                },
                {
                    "name": "un-named hi2729b",
                    "type": "synonym"
                },
                {
                    "name": "unm hi2729b",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger C4H2 domain-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zc4h2",
                    "type": "recommended"
                },
                {
                    "name": "wu:fb99f08",
                    "type": "synonym"
                },
                {
                    "name": "zc4h2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63849",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T3I0-1",
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                {
                    "id": "0060815",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060815"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FG0-1",
            "uniprot_ac": "Q68FG0",
            "uniprot_id": "ZC4H2_MOUSE",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Zinc finger C4H2 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "Hepatocellular carcinoma-associated antigen 127 homolog",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma-associated antigen 127 homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger C4H2 domain-containing protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger C4H2 domain-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Zc4h2",
                    "type": "recommended"
                },
                {
                    "name": "Gm372",
                    "type": "synonym"
                },
                {
                    "name": "Hca127",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1166",
                    "type": "synonym"
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                {
                    "name": "Zc4h2",
                    "type": "synonym"
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                {
                    "name": "mKIAA1166",
                    "type": "synonym"
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                    "id": "0060815",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060815"
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        },
        {
            "uniprot_canonical_ac": "Q9NQZ6-1",
            "uniprot_ac": "Q9NQZ6",
            "uniprot_id": "ZC4H2_HUMAN",
            "refseq_ac": "NP_001171503",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger C4H2 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "Hepatocellular carcinoma-associated antigen 127",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma-associated antigen 127",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger C4H2 domain-containing protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger C4H2 domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, C4H2 domain containing",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZC4H2",
                    "type": "recommended"
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                {
                    "name": "HCA127",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1166",
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                {
                    "name": "MCS",
                    "type": "synonym"
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                {
                    "name": "MRXS4",
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                {
                    "name": "WRWFFR",
                    "type": "synonym"
                },
                {
                    "name": "WRWF",
                    "type": "synonym"
                },
                {
                    "name": "WWS",
                    "type": "synonym"
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                {
                    "name": "ZC4H2",
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                }
            ],
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                    "id": "314580",
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                {
                    "id": "0060815",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060815"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K2W7-1",
            "uniprot_ac": "A0A0G2K2W7",
            "uniprot_id": "A0A0G2K2W7_RAT",
            "refseq_ac": "XP_038955876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger C4H2-type containing",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger C4H2 domain-containing protein isoform X1",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "Zc4h2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1561708",
                    "type": "synonym"
                },
                {
                    "name": "Zc4h2",
                    "type": "synonym"
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            ],
            "record_id": "A0A0G2K2W7-1",
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                    "id": "0060815",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060815"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VX94-1",
            "uniprot_ac": "Q9VX94",
            "uniprot_id": "Q9VX94_DROME",
            "refseq_ac": "NP_573181",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "C4H2-type domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13001-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13001",
                    "type": "recommended"
                },
                {
                    "name": "CG13001",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13001",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13001",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060815",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060815"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060815"
}