{
    "disease_id": "DOID:0070054",
    "recommended_name": {
        "id": "DOID:0070054",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070054",
        "name": "Vulto-van Silfout-de Vries syndrome",
        "description": "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5."
    },
    "synonyms": [
        {
            "id": "DOID:0070054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070054",
            "name": "MRD24",
            "description": ""
        },
        {
            "id": "DOID:0070054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070054",
            "name": "autosomal dominant mental retardation 24",
            "description": ""
        },
        {
            "id": "DOID:0070054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070054",
            "name": "autosomal dominant non-syndromic intellectual disability 24",
            "description": ""
        },
        {
            "id": "DOID:0070054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070054",
            "name": "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures",
            "description": ""
        },
        {
            "id": "DOID:0070054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070054",
            "name": "IDDISBAS",
            "description": ""
        },
        {
            "id": "DOID:0070054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070054",
            "name": "VSVS",
            "description": ""
        },
        {
            "id": "MONDO:0014357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "name": "intellectual disability, autosomal dominant 24",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene."
        },
        {
            "id": "MONDO:0014357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "name": "DEAF1 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "name": "MRD24",
            "description": ""
        },
        {
            "id": "MONDO:0014357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "name": "autosomal dominant intellectual disability 24",
            "description": ""
        },
        {
            "id": "MONDO:0014357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1",
            "description": ""
        },
        {
            "id": "MONDO:0014357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "name": "intellectual disability, autosomal dominant 24",
            "description": ""
        },
        {
            "id": "MONDO:0014357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "name": "intellectual disability, autosomal dominant type 24",
            "description": ""
        },
        {
            "id": "MONDO:0014357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "name": "mental retardation, autosomal dominant type 24",
            "description": ""
        },
        {
            "id": "MONDO:0014357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "name": "mental retardation, autosomal dominant 24",
            "description": ""
        },
        {
            "id": "MIM:615828",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615828",
            "name": "Vulto-van Silfout-de Vries syndrome",
            "description": "Vulto-van Silfout-de Vries syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070054"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070054",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070054",
            "categories": []
        },
        {
            "id": "MONDO:0014357",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014357",
            "categories": []
        },
        {
            "id": "MIM:615828",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615828",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BLH6-1",
            "uniprot_ac": "A0A8M2BLH6",
            "uniprot_id": "A0A8M2BLH6_DANRE",
            "refseq_ac": "XP_005174312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deformed epidermal autoregulatory factor 1 homolog isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "deformed epidermal autoregulatory factor 1 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "deaf1",
                    "type": "recommended"
                },
                {
                    "name": "deaf1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194895",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BLH6-1",
            "evidence": [
                {
                    "id": "0070054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1T5-1",
            "uniprot_ac": "Q9Z1T5",
            "uniprot_id": "DEAF1_MOUSE",
            "refseq_ac": "NP_058570",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deformed epidermal autoregulatory factor 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "NUDR",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear DEAF-1-related transcriptional regulator",
                    "type": "synonym"
                },
                {
                    "name": "deformed epidermal autoregulatory factor 1 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "deformed epidermal autoregulatory factor 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nuclear DEAF-1-related transcriptional regulator",
                    "type": "synonym"
                },
                {
                    "name": "suppressin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Deaf1",
                    "type": "recommended"
                },
                {
                    "name": "C230009B13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Deaf1",
                    "type": "synonym"
                },
                {
                    "name": "NUDR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1T5-1",
            "evidence": [
                {
                    "id": "0070054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75398-1",
            "uniprot_ac": "O75398",
            "uniprot_id": "DEAF1_HUMAN",
            "refseq_ac": "NP_001280563",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deformed epidermal autoregulatory factor 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "NUDR",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear DEAF-1-related transcriptional regulator",
                    "type": "synonym"
                },
                {
                    "name": "Suppressin",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger MYND domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "deformed epidermal autoregulatory factor 1 homolog isoform b",
                    "type": "synonym"
                },
                {
                    "name": "deformed epidermal autoregulatory factor 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nuclear DEAF-1-related transcriptional regulator",
                    "type": "synonym"
                },
                {
                    "name": "suppressin",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DEAF1",
                    "type": "recommended"
                },
                {
                    "name": "DEAF1",
                    "type": "synonym"
                },
                {
                    "name": "MRD24",
                    "type": "synonym"
                },
                {
                    "name": "NEDHELS",
                    "type": "synonym"
                },
                {
                    "name": "NUDR",
                    "type": "synonym"
                },
                {
                    "name": "SPN",
                    "type": "synonym"
                },
                {
                    "name": "VSVS",
                    "type": "synonym"
                },
                {
                    "name": "ZMYND5",
                    "type": "synonym"
                }
            ],
            "record_id": "O75398-1",
            "evidence": [
                {
                    "id": "615828",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615828"
                },
                {
                    "id": "0070054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88450-1",
            "uniprot_ac": "O88450",
            "uniprot_id": "DEAF1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deformed epidermal autoregulatory factor 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "NUDR",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear DEAF-1-related transcriptional regulator",
                    "type": "synonym"
                },
                {
                    "name": "Suppressin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Deaf1",
                    "type": "recommended"
                },
                {
                    "name": "Spn",
                    "type": "synonym"
                }
            ],
            "record_id": "O88450-1",
            "evidence": [
                {
                    "id": "0070054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24180-1",
            "uniprot_ac": "Q24180",
            "uniprot_id": "DEAF1_DROME",
            "refseq_ac": "NP_001262069",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deformed epidermal autoregulatory factor 1",
                    "type": "recommended"
                },
                {
                    "name": "CG8567-PD",
                    "type": "synonym"
                },
                {
                    "name": "Deaf1-PD",
                    "type": "synonym"
                },
                {
                    "name": "Protein DEAF-1",
                    "type": "synonym"
                },
                {
                    "name": "deaf-1",
                    "type": "synonym"
                },
                {
                    "name": "deformed epidermal autoregulatory factor-1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "deformed epidermal autoregulatory factor-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Deaf1",
                    "type": "recommended"
                },
                {
                    "name": "CG8567",
                    "type": "synonym"
                },
                {
                    "name": "DEAF-1",
                    "type": "synonym"
                },
                {
                    "name": "DEAF1",
                    "type": "synonym"
                },
                {
                    "name": "Deaf-1",
                    "type": "synonym"
                },
                {
                    "name": "Deaf1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8567",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8567",
                    "type": "synonym"
                },
                {
                    "name": "deaf1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)76BDv",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24180-1",
            "evidence": [
                {
                    "id": "0070054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070054"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070054"
}