{
    "disease_id": "DOID:0060395",
    "recommended_name": {
        "id": "DOID:0060395",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060395",
        "name": "chromosome 15q24 deletion syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15."
    },
    "synonyms": [
        {
            "id": "DOID:0060395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060395",
            "name": "15q24 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013256",
            "name": "chromosome 15q24 deletion syndrome",
            "description": "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies."
        },
        {
            "id": "MONDO:0013256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013256",
            "name": "15q24 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013256",
            "name": "15q24 recurrent microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013256",
            "name": "Del(15)(q24)",
            "description": ""
        },
        {
            "id": "MONDO:0013256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013256",
            "name": "chromosome 15q24 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013256",
            "name": "monosomy 15q24",
            "description": ""
        },
        {
            "id": "MONDO:0013256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013256",
            "name": "WITKOS",
            "description": ""
        },
        {
            "id": "MIM:613406",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613406",
            "name": "Witteveen-Kolk syndrome",
            "description": "Witteveen-Kolk syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060395"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060395",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060395",
            "categories": []
        },
        {
            "id": "MONDO:0013256",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013256",
            "categories": []
        },
        {
            "id": "MIM:613406",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613406",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F0R9-1",
            "uniprot_ac": "E7F0R9",
            "uniprot_id": "E7F0R9_DANRE",
            "refseq_ac": "XP_002662923",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired amphipathic helix protein Sin3a",
                    "type": "recommended"
                },
                {
                    "name": "Histone deacetylase complex subunit Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional corepressor Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "paired amphipathic helix protein Sin3a isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sin3ab",
                    "type": "recommended"
                },
                {
                    "name": "sin3ab",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F0R9-1",
            "evidence": [
                {
                    "id": "0060395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60520-2",
            "uniprot_ac": "Q60520",
            "uniprot_id": "SIN3A_MOUSE",
            "refseq_ac": "NP_001103820",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired amphipathic helix protein Sin3a",
                    "type": "recommended"
                },
                {
                    "name": "Histone deacetylase complex subunit Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional corepressor Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase complex subunit Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "paired amphipathic helix protein Sin3a isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "paired amphipathic helix protein Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional corepressor Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional regulator, SIN3 yeast homolog A",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional regulator, SIN3A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sin3a",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa4126",
                    "type": "synonym"
                },
                {
                    "name": "Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "Sin3",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4126",
                    "type": "synonym"
                },
                {
                    "name": "mSin3A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60520-2",
            "evidence": [
                {
                    "id": "0060395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96ST3-1",
            "uniprot_ac": "Q96ST3",
            "uniprot_id": "SIN3A_HUMAN",
            "refseq_ac": "NP_001138829",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired amphipathic helix protein Sin3a",
                    "type": "recommended"
                },
                {
                    "name": "Histone deacetylase complex subunit Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "SIN3 homolog A, transcription regulator",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional corepressor Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase complex subunit Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "paired amphipathic helix protein Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional co-repressor Sin3A",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional corepressor Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional regulator, SIN3A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIN3A",
                    "type": "recommended"
                },
                {
                    "name": "CHR15DELq24",
                    "type": "synonym"
                },
                {
                    "name": "DEL15Q24",
                    "type": "synonym"
                },
                {
                    "name": "SIN3A",
                    "type": "synonym"
                },
                {
                    "name": "WITKOS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96ST3-1",
            "evidence": [
                {
                    "id": "613406",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613406"
                },
                {
                    "id": "0060395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22579-1",
            "uniprot_ac": "P22579",
            "uniprot_id": "SIN3_YEAST",
            "refseq_ac": "NP_014639",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional regulatory protein SIN3",
                    "type": "recommended"
                },
                {
                    "name": "transcriptional regulator SIN3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIN3",
                    "type": "recommended"
                },
                {
                    "name": "CPE1",
                    "type": "synonym"
                },
                {
                    "name": "GAM2",
                    "type": "synonym"
                },
                {
                    "name": "RPD1",
                    "type": "synonym"
                },
                {
                    "name": "SDI1",
                    "type": "synonym"
                },
                {
                    "name": "SDS16",
                    "type": "synonym"
                },
                {
                    "name": "SIN3",
                    "type": "synonym"
                },
                {
                    "name": "UME4",
                    "type": "synonym"
                }
            ],
            "record_id": "P22579-1",
            "evidence": [
                {
                    "id": "0060395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZBP2-1",
            "uniprot_ac": "D3ZBP2",
            "uniprot_id": "D3ZBP2_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": "Paired amphipathic helix protein Sin3a",
                    "type": "recommended"
                },
                {
                    "name": "Histone deacetylase complex subunit Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional corepressor Sin3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sin3a",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZBP2-1",
            "evidence": [
                {
                    "id": "0060395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K765-1",
            "uniprot_ac": "A0A0B4K765",
            "uniprot_id": "A0A0B4K765_DROME",
            "refseq_ac": "NP_001246282",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired amphipathic helix protein Sin3a",
                    "type": "recommended"
                },
                {
                    "name": "CG8815-PG",
                    "type": "synonym"
                },
                {
                    "name": "Histone deacetylase complex subunit Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "Sin3A, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Sin3A-PG",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional corepressor Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of GMR-sina 2-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sin3A",
                    "type": "recommended"
                },
                {
                    "name": "159A11T",
                    "type": "synonym"
                },
                {
                    "name": "15",
                    "type": "synonym"
                },
                {
                    "name": "27/3",
                    "type": "synonym"
                },
                {
                    "name": "3",
                    "type": "synonym"
                },
                {
                    "name": "97/15",
                    "type": "synonym"
                },
                {
                    "name": "CG8815",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8815",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8815",
                    "type": "synonym"
                },
                {
                    "name": "ES2-3",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:159A11T",
                    "type": "synonym"
                },
                {
                    "name": "EY2-9",
                    "type": "synonym"
                },
                {
                    "name": "SIN3A",
                    "type": "synonym"
                },
                {
                    "name": "SIN3",
                    "type": "synonym"
                },
                {
                    "name": "Sin 3A",
                    "type": "synonym"
                },
                {
                    "name": "Sin3A",
                    "type": "synonym"
                },
                {
                    "name": "Sin3a",
                    "type": "synonym"
                },
                {
                    "name": "Sin3",
                    "type": "synonym"
                },
                {
                    "name": "dSin3A",
                    "type": "synonym"
                },
                {
                    "name": "dSin3",
                    "type": "synonym"
                },
                {
                    "name": "l(2)08269",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k02703",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k05415",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k09715",
                    "type": "synonym"
                },
                {
                    "name": "ld",
                    "type": "synonym"
                },
                {
                    "name": "sin3A",
                    "type": "synonym"
                },
                {
                    "name": "sin3a",
                    "type": "synonym"
                },
                {
                    "name": "sin3",
                    "type": "synonym"
                },
                {
                    "name": "sni3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K765-1",
            "evidence": [
                {
                    "id": "0060395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060395"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060395"
}