{
    "disease_id": "DOID:0051010",
    "recommended_name": {
        "id": "DOID:0051010",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051010",
        "name": "Bryant-Li-Bhoj neurodevelopmental syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities."
    },
    "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": "DOID:0051011",
            "label": "Bryant-Li-Bhoj neurodevelopmental syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051012",
            "label": "Bryant-Li-Bhoj neurodevelopmental syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0051010",
        "DOID:0051011",
        "DOID:0051012"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051010",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051010",
            "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": "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"
                },
                {
                    "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"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "0051010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051010"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051010"
}