{
    "disease_id": "DOID:0070415",
    "recommended_name": {
        "id": "DOID:0070415",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070415",
        "name": "brachycephaly, trichomegaly, and developmental delay",
        "description": "A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14."
    },
    "synonyms": [
        {
            "id": "DOID:0070415",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070415",
            "name": "BTDD",
            "description": ""
        },
        {
            "id": "DOID:0070415",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070415",
            "name": "MCINS",
            "description": ""
        },
        {
            "id": "DOID:0070415",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070415",
            "name": "Macinnes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044311",
            "name": "brachycephaly, trichomegaly, and developmental delay",
            "description": "BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017})."
        },
        {
            "id": "MONDO:0044311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044311",
            "name": "brachycephaly, trichomegaly, and developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0044311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044311",
            "name": "BTDD",
            "description": ""
        },
        {
            "id": "MIM:617412",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617412",
            "name": "Brachycephaly, trichomegaly, and developmental delay",
            "description": "Brachycephaly, trichomegaly, and developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070415"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070415",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070415",
            "categories": []
        },
        {
            "id": "MONDO:0044311",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044311",
            "categories": []
        },
        {
            "id": "MIM:617412",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617412",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62267-1",
            "uniprot_ac": "P62267",
            "uniprot_id": "RS23_MOUSE",
            "refseq_ac": "NP_077137",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS12",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S23",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps23",
                    "type": "recommended"
                },
                {
                    "name": "2410044J15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rps23",
                    "type": "synonym"
                }
            ],
            "record_id": "P62267-1",
            "evidence": [
                {
                    "id": "0070415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62266-1",
            "uniprot_ac": "P62266",
            "uniprot_id": "RS23_HUMAN",
            "refseq_ac": "NP_001016",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS12",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S23",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast ribosomal protein S28",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS23",
                    "type": "recommended"
                },
                {
                    "name": "BTDD",
                    "type": "synonym"
                },
                {
                    "name": "MABAS",
                    "type": "synonym"
                },
                {
                    "name": "MCINS",
                    "type": "synonym"
                },
                {
                    "name": "PAMAS",
                    "type": "synonym"
                },
                {
                    "name": "RPS23",
                    "type": "synonym"
                },
                {
                    "name": "S23",
                    "type": "synonym"
                },
                {
                    "name": "uS12",
                    "type": "synonym"
                }
            ],
            "record_id": "P62266-1",
            "evidence": [
                {
                    "id": "617412",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617412"
                },
                {
                    "id": "0070415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CX29-1",
            "uniprot_ac": "P0CX29",
            "uniprot_id": "RS23A_YEAST",
            "refseq_ac": "NP_011633",
            "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": "Small ribosomal subunit protein uS12A",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S23-A",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein uS12 RPS23A",
                    "type": "synonym"
                },
                {
                    "name": "RP37",
                    "type": "synonym"
                },
                {
                    "name": "S28",
                    "type": "synonym"
                },
                {
                    "name": "YS14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS23A",
                    "type": "recommended"
                },
                {
                    "name": "G6178",
                    "type": "synonym"
                },
                {
                    "name": "RPS23A",
                    "type": "synonym"
                },
                {
                    "name": "RPS28A",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CX29-1",
            "evidence": [
                {
                    "id": "0070415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CX30-1",
            "uniprot_ac": "P0CX30",
            "uniprot_id": "RS23B_YEAST",
            "refseq_ac": "NP_015457",
            "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": "Small ribosomal subunit protein uS12B",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S23-B",
                    "type": "synonym"
                },
                {
                    "name": "40S ribosomal protein uS12 RPS23B",
                    "type": "synonym"
                },
                {
                    "name": "RP37",
                    "type": "synonym"
                },
                {
                    "name": "S28",
                    "type": "synonym"
                },
                {
                    "name": "YS14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPS23B",
                    "type": "recommended"
                },
                {
                    "name": "P9659.9",
                    "type": "synonym"
                },
                {
                    "name": "RPS23B",
                    "type": "synonym"
                },
                {
                    "name": "RPS28B",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CX30-1",
            "evidence": [
                {
                    "id": "0070415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9Q3-1",
            "uniprot_ac": "D4A9Q3",
            "uniprot_id": "D4A9Q3_RAT",
            "refseq_ac": "XP_038948515",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS12",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S23",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS12-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps23l1",
                    "type": "recommended"
                },
                {
                    "name": "AABR07072400.1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563570",
                    "type": "synonym"
                },
                {
                    "name": "Rps23l1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A9Q3-1",
            "evidence": [
                {
                    "id": "0070415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LTW8-1",
            "uniprot_ac": "F1LTW8",
            "uniprot_id": "F1LTW8_RAT",
            "refseq_ac": "XP_038938807",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS12",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S23",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS12-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps23-ps11",
                    "type": "recommended"
                },
                {
                    "name": "AABR07071482.2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563705",
                    "type": "synonym"
                },
                {
                    "name": "Rps23-ps11",
                    "type": "synonym"
                },
                {
                    "name": "Rps23l2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LTW8-1",
            "evidence": [
                {
                    "id": "0070415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62268-1",
            "uniprot_ac": "P62268",
            "uniprot_id": "RS23_RAT",
            "refseq_ac": "NP_511172",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS12",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S23",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps23",
                    "type": "recommended"
                },
                {
                    "name": "Rps23",
                    "type": "synonym"
                }
            ],
            "record_id": "P62268-1",
            "evidence": [
                {
                    "id": "0070415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8T3U2-1",
            "uniprot_ac": "Q8T3U2",
            "uniprot_id": "RS23_DROME",
            "refseq_ac": "NP_001286410",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS12",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S23",
                    "type": "synonym"
                },
                {
                    "name": "CG8415-PB",
                    "type": "synonym"
                },
                {
                    "name": "RpS23-PB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S23, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein S23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpS23",
                    "type": "recommended"
                },
                {
                    "name": "CG8415",
                    "type": "synonym"
                },
                {
                    "name": "CT24703",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8415",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8415",
                    "type": "synonym"
                },
                {
                    "name": "RPS23",
                    "type": "synonym"
                },
                {
                    "name": "Rp S23",
                    "type": "synonym"
                },
                {
                    "name": "RpS23",
                    "type": "synonym"
                },
                {
                    "name": "Rps23",
                    "type": "synonym"
                },
                {
                    "name": "S12",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey158",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey63",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8T3U2-1",
            "evidence": [
                {
                    "id": "0070415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070415"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070415"
}