{
    "disease_id": "DOID:0051011",
    "recommended_name": {
        "id": "DOID:0051011",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051011",
        "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 1",
        "description": "A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "MONDO:0030606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030606",
            "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0030606",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030606",
            "name": "BRYLIB1",
            "description": ""
        },
        {
            "id": "MIM:619720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619720",
            "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 1",
            "description": "Bryant-Li-Bhoj neurodevelopmental syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051011"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051011",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051011",
            "categories": []
        },
        {
            "id": "MONDO:0030606",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030606",
            "categories": []
        },
        {
            "id": "MIM:619720",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619720",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PI20-1",
            "uniprot_ac": "Q6PI20",
            "uniprot_id": "H33_DANRE",
            "refseq_ac": "NP_001017599",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone H3.3",
                    "type": "recommended"
                },
                {
                    "name": "histone H3.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "h3-5",
                    "type": "recommended"
                },
                {
                    "name": "h3f3a",
                    "type": "recommended"
                },
                {
                    "name": "h3f3b.1",
                    "type": "recommended"
                },
                {
                    "name": "h3f3d",
                    "type": "recommended"
                },
                {
                    "name": "fb58e10",
                    "type": "synonym"
                },
                {
                    "name": "h3-5",
                    "type": "synonym"
                },
                {
                    "name": "h3f3a",
                    "type": "synonym"
                },
                {
                    "name": "h3f3b.1",
                    "type": "synonym"
                },
                {
                    "name": "h3f3c",
                    "type": "synonym"
                },
                {
                    "name": "h3f3d",
                    "type": "synonym"
                },
                {
                    "name": "si:ch1073-429i10.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa25h06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa96g06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb07a08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb36f01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb58e10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110292",
                    "type": "synonym"
                },
                {
                    "name": "zgc:174300",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56193",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56418",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64222",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86731",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PI20-1",
            "evidence": [
                {
                    "id": "0051011",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0051011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84244-1",
            "uniprot_ac": "P84244",
            "uniprot_id": "H33_MOUSE",
            "refseq_ac": "NP_032236",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone H3.3",
                    "type": "recommended"
                },
                {
                    "name": "H3 histone, family 3A",
                    "type": "synonym"
                },
                {
                    "name": "histone H3.3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "H3-3a",
                    "type": "recommended"
                },
                {
                    "name": "H3-3b",
                    "type": "recommended"
                },
                {
                    "name": "H3f3a",
                    "type": "recommended"
                },
                {
                    "name": "EyeLinc14",
                    "type": "synonym"
                },
                {
                    "name": "H3-3a",
                    "type": "synonym"
                },
                {
                    "name": "H3-3b",
                    "type": "synonym"
                },
                {
                    "name": "H3.3A",
                    "type": "synonym"
                },
                {
                    "name": "H3.3a",
                    "type": "synonym"
                },
                {
                    "name": "H3.3b",
                    "type": "synonym"
                },
                {
                    "name": "H3f3a",
                    "type": "synonym"
                },
                {
                    "name": "H3f3b",
                    "type": "synonym"
                }
            ],
            "record_id": "P84244-1",
            "evidence": [
                {
                    "id": "0051011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84243-1",
            "uniprot_ac": "P84243",
            "uniprot_id": "H33_HUMAN",
            "refseq_ac": "NP_002098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone H3.3",
                    "type": "recommended"
                },
                {
                    "name": "H3 histone family member 3A",
                    "type": "synonym"
                },
                {
                    "name": "H3 histone, family 3A",
                    "type": "synonym"
                },
                {
                    "name": "histone H3.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "H3-3A",
                    "type": "recommended"
                },
                {
                    "name": "H3-3B",
                    "type": "recommended"
                },
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                    "name": "BRYLIB1",
                    "type": "synonym"
                },
                {
                    "name": "H3-3A",
                    "type": "synonym"
                },
                {
                    "name": "H3.3A",
                    "type": "synonym"
                },
                {
                    "name": "H3.3B",
                    "type": "synonym"
                },
                {
                    "name": "H3F3A",
                    "type": "synonym"
                },
                {
                    "name": "H3F3B",
                    "type": "synonym"
                },
                {
                    "name": "H3F3",
                    "type": "synonym"
                },
                {
                    "name": "PP781",
                    "type": "synonym"
                }
            ],
            "record_id": "P84243-1",
            "evidence": [
                {
                    "id": "619720",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619720"
                },
                {
                    "id": "0051011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61830-1",
            "uniprot_ac": "P61830",
            "uniprot_id": "H3_YEAST",
            "refseq_ac": "NP_009564",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone H3",
                    "type": "recommended"
                },
                {
                    "name": "histone H3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HHT1",
                    "type": "recommended"
                },
                {
                    "name": "HHT2",
                    "type": "recommended"
                },
                {
                    "name": "BUR5",
                    "type": "synonym"
                },
                {
                    "name": "HHT1",
                    "type": "synonym"
                },
                {
                    "name": "N2749",
                    "type": "synonym"
                },
                {
                    "name": "SIN2",
                    "type": "synonym"
                },
                {
                    "name": "YBR0201",
                    "type": "synonym"
                }
            ],
            "record_id": "P61830-1",
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                {
                    "id": "0051011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "C0HL67-1",
            "uniprot_ac": "C0HL67",
            "uniprot_id": "H33B_DROME",
            "refseq_ac": "NP_001259374",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone H3.3B",
                    "type": "recommended"
                },
                {
                    "name": "CG8989-PE",
                    "type": "synonym"
                },
                {
                    "name": "H3.B",
                    "type": "synonym"
                },
                {
                    "name": "His3.3B-PE",
                    "type": "synonym"
                },
                {
                    "name": "HistoneH3",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1B6",
                    "type": "synonym"
                },
                {
                    "name": "histone H3-3Q",
                    "type": "synonym"
                },
                {
                    "name": "histone H3.3B, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "histone H3.3",
                    "type": "synonym"
                },
                {
                    "name": "histone variant 3.3",
                    "type": "synonym"
                },
                {
                    "name": "histone variant H3.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "His3.3B",
                    "type": "recommended"
                },
                {
                    "name": "CG8989",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8989",
                    "type": "synonym"
                },
                {
                    "name": "H3.3B",
                    "type": "synonym"
                },
                {
                    "name": "H3.3",
                    "type": "synonym"
                },
                {
                    "name": "His 3.3 B",
                    "type": "synonym"
                },
                {
                    "name": "His 3.3B",
                    "type": "synonym"
                },
                {
                    "name": "His3.3B",
                    "type": "synonym"
                },
                {
                    "name": "His3.3",
                    "type": "synonym"
                },
                {
                    "name": "HisH3-3Q",
                    "type": "synonym"
                },
                {
                    "name": "PH3",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1B6",
                    "type": "synonym"
                },
                {
                    "name": "dH3.3B",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0051011",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0051011"
                }
            ]
        },
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            "uniprot_canonical_ac": "C0HL66-1",
            "uniprot_ac": "C0HL66",
            "uniprot_id": "H33A_DROME",
            "refseq_ac": "NP_001260082",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Histone H3.3A",
                    "type": "recommended"
                },
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                    "name": "CG5825-PC",
                    "type": "synonym"
                },
                {
                    "name": "H3.A",
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                },
                {
                    "name": "H3L-like histone",
                    "type": "synonym"
                },
                {
                    "name": "His3.3A-PC",
                    "type": "synonym"
                },
                {
                    "name": "histone H3.3 variant",
                    "type": "synonym"
                },
                {
                    "name": "histone H3.3A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "histone H3.3A",
                    "type": "synonym"
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                {
                    "name": "histone H3.3",
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                },
                {
                    "name": "histone variant 3.3",
                    "type": "synonym"
                },
                {
                    "name": "histone variant H3.3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "His3.3A",
                    "type": "recommended"
                },
                {
                    "name": "CG5825",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5825",
                    "type": "synonym"
                },
                {
                    "name": "H3.3 A",
                    "type": "synonym"
                },
                {
                    "name": "H3.3A",
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                },
                {
                    "name": "H3.3",
                    "type": "synonym"
                },
                {
                    "name": "His-3.3A",
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                },
                {
                    "name": "His3.3A",
                    "type": "synonym"
                },
                {
                    "name": "His3.3",
                    "type": "synonym"
                },
                {
                    "name": "PH3",
                    "type": "synonym"
                },
                {
                    "name": "dH3.3A",
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                }
            ],
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                {
                    "id": "0051011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051011"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051011"
}