{
    "disease_id": "DOID:0070529",
    "recommended_name": {
        "id": "DOID:0070529",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070529",
        "name": "Sifrim-Hitz-Weiss syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31."
    },
    "synonyms": [
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "CHD4 Neurodevelopmental Disorder",
            "description": ""
        },
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "CHD4-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "CHD4-related neurodevelopmental syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "SIHIWES",
            "description": ""
        },
        {
            "id": "DOID:0070529",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "name": "SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "Sifrim-Hitz-Weiss syndrome",
            "description": "A rare multiple congenital anomalies/dysmorphic syndrome due to CHD4 gene mutations. It is characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence). Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and hypogonadism (only in males)."
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "CHD4-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "SIHIWES",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "Sifrim-Hitz-Weiss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "Sifrim-Hitz-Weiss syndrome; SIHIWES",
            "description": ""
        },
        {
            "id": "MONDO:0014946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "name": "Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MIM:617159",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617159",
            "name": "Sifrim-Hitz-Weiss syndrome",
            "description": "Sifrim-Hitz-Weiss syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070529"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070529",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070529",
            "categories": []
        },
        {
            "id": "MONDO:0014946",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014946",
            "categories": []
        },
        {
            "id": "MIM:617159",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617159",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PRM2-1",
            "uniprot_ac": "A0A8M9PRM2",
            "uniprot_id": "A0A8M9PRM2_DANRE",
            "refseq_ac": "XP_021323760",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromodomain-helicase-DNA-binding protein 4a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "chromodomain-helicase-DNA-binding protein 4a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chd4a",
                    "type": "recommended"
                },
                {
                    "name": "chd4a",
                    "type": "synonym"
                },
                {
                    "name": "im:7143343",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-51m24.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PRM2-1",
            "evidence": [
                {
                    "id": "0070529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1RBT2-1",
            "uniprot_ac": "F1RBT2",
            "uniprot_id": "F1RBT2_DANRE",
            "refseq_ac": "XP_021322613",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromodomain-helicase-DNA-binding protein 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "chromodomain-helicase-DNA-binding protein 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chd4b",
                    "type": "recommended"
                },
                {
                    "name": "chd4b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RBT2-1",
            "evidence": [
                {
                    "id": "0070529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PDQ2-1",
            "uniprot_ac": "Q6PDQ2",
            "uniprot_id": "CHD4_MOUSE",
            "refseq_ac": "NP_001333539",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler CHD4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD4 isoform g",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD4",
                    "type": "synonym"
                },
                {
                    "name": "CHD-4",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2 beta",
                    "type": "synonym"
                },
                {
                    "name": "chromo domain-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chd4",
                    "type": "recommended"
                },
                {
                    "name": "9530019N15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Chd4",
                    "type": "synonym"
                },
                {
                    "name": "D6Ertd380e",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2beta",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4075",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PDQ2-1",
            "evidence": [
                {
                    "id": "0070529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14839-1",
            "uniprot_ac": "Q14839",
            "uniprot_id": "CHD4_HUMAN",
            "refseq_ac": "NP_001264",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler CHD4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase CHD4",
                    "type": "synonym"
                },
                {
                    "name": "CHD-4",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2 autoantigen 218 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Mi2-beta",
                    "type": "synonym"
                },
                {
                    "name": "chromo domain-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHD4",
                    "type": "recommended"
                },
                {
                    "name": "CHD-4",
                    "type": "synonym"
                },
                {
                    "name": "CHD4",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2b",
                    "type": "synonym"
                },
                {
                    "name": "Mi2-BETA",
                    "type": "synonym"
                },
                {
                    "name": "SIHIWES",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14839-1",
            "evidence": [
                {
                    "id": "617159",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617159"
                },
                {
                    "id": "0070529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PU01-1",
            "uniprot_ac": "E9PU01",
            "uniprot_id": "E9PU01_RAT",
            "refseq_ac": "XP_006237463",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler CHD4",
                    "type": "recommended"
                },
                {
                    "name": "Chromo domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "chromodomain-helicase-DNA-binding protein 4 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chd4",
                    "type": "recommended"
                },
                {
                    "name": "Chd4",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PU01-1",
            "evidence": [
                {
                    "id": "0070529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O97159-1",
            "uniprot_ac": "O97159",
            "uniprot_id": "CHDM_DROME",
            "refseq_ac": "NP_001163476",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler Mi-2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG8103-PC",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein Mi-2",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2-PC",
                    "type": "synonym"
                },
                {
                    "name": "PHD-containing ATPase",
                    "type": "synonym"
                },
                {
                    "name": "dMi-2",
                    "type": "synonym"
                },
                {
                    "name": "hb-interacting protein 76",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) L1243",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mi-2",
                    "type": "recommended"
                },
                {
                    "name": "0006/06",
                    "type": "synonym"
                },
                {
                    "name": "01",
                    "type": "synonym"
                },
                {
                    "name": "06",
                    "type": "synonym"
                },
                {
                    "name": "0854/01",
                    "type": "synonym"
                },
                {
                    "name": "CG8103",
                    "type": "synonym"
                },
                {
                    "name": "Chd4",
                    "type": "synonym"
                },
                {
                    "name": "Dm-Mi-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8103",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8103",
                    "type": "synonym"
                },
                {
                    "name": "M-i2",
                    "type": "synonym"
                },
                {
                    "name": "MI-2",
                    "type": "synonym"
                },
                {
                    "name": "MI2",
                    "type": "synonym"
                },
                {
                    "name": "Mi 2",
                    "type": "synonym"
                },
                {
                    "name": "Mi-2",
                    "type": "synonym"
                },
                {
                    "name": "Mi2",
                    "type": "synonym"
                },
                {
                    "name": "Pha",
                    "type": "synonym"
                },
                {
                    "name": "dMI-2",
                    "type": "synonym"
                },
                {
                    "name": "dMi-2",
                    "type": "synonym"
                },
                {
                    "name": "dMi2",
                    "type": "synonym"
                },
                {
                    "name": "dMi",
                    "type": "synonym"
                },
                {
                    "name": "hip76",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01058",
                    "type": "synonym"
                },
                {
                    "name": "l(3)76BDe",
                    "type": "synonym"
                },
                {
                    "name": "l(3)A154.3M3",
                    "type": "synonym"
                },
                {
                    "name": "l(3)L1243",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S000606",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S085401",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j3D4",
                    "type": "synonym"
                },
                {
                    "name": "pha",
                    "type": "synonym"
                }
            ],
            "record_id": "O97159-1",
            "evidence": [
                {
                    "id": "0070529",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070529"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070529"
}