{
    "disease_id": "DOID:0111841",
    "recommended_name": {
        "id": "DOID:0111841",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111841",
        "name": "Shukla-Vernon syndrome",
        "description": "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111841",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111841",
            "name": "SHUVER",
            "description": ""
        },
        {
            "id": "MONDO:0026727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026727",
            "name": "Shukla-Vernon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0026727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026727",
            "name": "Shukla-Vernon syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0026727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026727",
            "name": "SHUVER",
            "description": ""
        },
        {
            "id": "MIM:301029",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301029",
            "name": "Shukla-Vernon syndrome",
            "description": "Shukla-Vernon syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111841"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111841",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111841",
            "categories": []
        },
        {
            "id": "MONDO:0026727",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026727",
            "categories": []
        },
        {
            "id": "MIM:301029",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301029",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BKM1-1",
            "uniprot_ac": "A0A8M2BKM1",
            "uniprot_id": "A0A8M2BKM1_DANRE",
            "refseq_ac": "XP_073778258",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein bcorl1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein bcorl1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcorl1",
                    "type": "recommended"
                },
                {
                    "name": "bcorl1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BKM1-1",
            "evidence": [
                {
                    "id": "0111841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AQH4-1",
            "uniprot_ac": "A2AQH4",
            "uniprot_id": "BCORL_MOUSE",
            "refseq_ac": "NP_848897",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCL-6 corepressor-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "BCL-6 corepressor-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BCoR-L1",
                    "type": "synonym"
                },
                {
                    "name": "BCoR-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcorl1",
                    "type": "recommended"
                },
                {
                    "name": "6720425J07Rik",
                    "type": "synonym"
                },
                {
                    "name": "B930011H20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bcorl1",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AQH4-1",
            "evidence": [
                {
                    "id": "0111841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5H9F3-3",
            "uniprot_ac": "Q5H9F3",
            "uniprot_id": "BCORL_HUMAN",
            "refseq_ac": "NP_068765",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCL-6 corepressor-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "BCL-6 corepressor-like protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "BCoR-L1",
                    "type": "synonym"
                },
                {
                    "name": "BCoR-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCORL1",
                    "type": "recommended"
                },
                {
                    "name": "BCORL1",
                    "type": "synonym"
                },
                {
                    "name": "BCoR-L1",
                    "type": "synonym"
                },
                {
                    "name": "CXorf10",
                    "type": "synonym"
                },
                {
                    "name": "SHUVER",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5H9F3-3",
            "evidence": [
                {
                    "id": "301029",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301029"
                },
                {
                    "id": "0111841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LYC7-1",
            "uniprot_ac": "F1LYC7",
            "uniprot_id": "F1LYC7_RAT",
            "refseq_ac": "NP_001178516",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCL-6 corepressor-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BCL6 co-repressor-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcorl1",
                    "type": "recommended"
                },
                {
                    "name": "Bcorl1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566108",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LYC7-1",
            "evidence": [
                {
                    "id": "0111841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111841"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQT4-1",
            "uniprot_ac": "Q8IQT4",
            "uniprot_id": "Q8IQT4_DROME",
            "refseq_ac": "NP_001262022",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein piccolo",
                    "type": "recommended"
                },
                {
                    "name": "CG14073-PC",
                    "type": "synonym"
                },
                {
                    "name": "nirvana",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nirvana",
                    "type": "recommended"
                },
                {
                    "name": "CG14073",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14073",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14073",
                    "type": "synonym"
                },
                {
                    "name": "Nirvana",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQT4-1",
            "evidence": [
                {
                    "id": "0111841",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111841"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111841"
}