{
    "disease_id": "DOID:0080893",
    "recommended_name": {
        "id": "DOID:0080893",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080893",
        "name": "Bainbridge-Ropers syndrome",
        "description": "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12."
    },
    "synonyms": [
        {
            "id": "DOID:0080893",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080893",
            "name": "ASXL3-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014205",
            "name": "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014205",
            "name": "ASXL3-Related Disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014205",
            "name": "Bainbridge-Roppers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014205",
            "name": "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014205",
            "name": "BAINBRIDGE-ROPERS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014205",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014205",
            "name": "BRPS",
            "description": ""
        },
        {
            "id": "MIM:615485",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615485",
            "name": "Bainbridge-Ropers syndrome",
            "description": "Bainbridge-Ropers syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080893"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080893",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080893",
            "categories": []
        },
        {
            "id": "MONDO:0014205",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014205",
            "categories": []
        },
        {
            "id": "MIM:615485",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615485",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C4A5-1",
            "uniprot_ac": "Q8C4A5",
            "uniprot_id": "ASXL3_MOUSE",
            "refseq_ac": "NP_001161249",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative Polycomb group protein ASXL3",
                    "type": "recommended"
                },
                {
                    "name": "Additional sex combs-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "additional sex combs like 3, transcriptional regulator",
                    "type": "synonym"
                },
                {
                    "name": "additional sex combs-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "polycomb group protein",
                    "type": "synonym"
                },
                {
                    "name": "putative Polycomb group protein ASXL3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Asxl3",
                    "type": "recommended"
                },
                {
                    "name": "Asxl3",
                    "type": "synonym"
                },
                {
                    "name": "C230079D11Rik",
                    "type": "synonym"
                },
                {
                    "name": "D430002O22Rik",
                    "type": "synonym"
                },
                {
                    "name": "D930044O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm329",
                    "type": "synonym"
                },
                {
                    "name": "Gm945",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C4A5-1",
            "evidence": [
                {
                    "id": "0080893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080893"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C0F0-1",
            "uniprot_ac": "Q9C0F0",
            "uniprot_id": "ASXL3_HUMAN",
            "refseq_ac": "NP_085135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative Polycomb group protein ASXL3",
                    "type": "recommended"
                },
                {
                    "name": "Additional sex combs-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "additional sex combs like 3, transcriptional regulator",
                    "type": "synonym"
                },
                {
                    "name": "additional sex combs like transcriptional regulator 3",
                    "type": "synonym"
                },
                {
                    "name": "additional sex combs-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "putative Polycomb group protein ASXL3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ASXL3",
                    "type": "recommended"
                },
                {
                    "name": "ASXL3",
                    "type": "synonym"
                },
                {
                    "name": "BRPS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1713",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C0F0-1",
            "evidence": [
                {
                    "id": "615485",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615485"
                },
                {
                    "id": "0080893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080893"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M090-1",
            "uniprot_ac": "F1M090",
            "uniprot_id": "F1M090_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": "ASXL transcriptional regulator 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Asxl3",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M090-1",
            "evidence": [
                {
                    "id": "0080893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080893"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V727-1",
            "uniprot_ac": "Q9V727",
            "uniprot_id": "ASX_DROME",
            "refseq_ac": "NP_725398",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polycomb group protein Asx",
                    "type": "recommended"
                },
                {
                    "name": "Asx-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG8787-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein additional sex combs",
                    "type": "synonym"
                },
                {
                    "name": "additional Sex combs",
                    "type": "synonym"
                },
                {
                    "name": "additional sex combs, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "additional sex comb",
                    "type": "synonym"
                },
                {
                    "name": "additionnal sex comb",
                    "type": "synonym"
                },
                {
                    "name": "xenicid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Asx",
                    "type": "recommended"
                },
                {
                    "name": "ASX",
                    "type": "synonym"
                },
                {
                    "name": "Asx",
                    "type": "synonym"
                },
                {
                    "name": "CG8787",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8787",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8787",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0261823",
                    "type": "synonym"
                },
                {
                    "name": "xen",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V727-1",
            "evidence": [
                {
                    "id": "0080893",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080893"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080893"
}