{
    "disease_id": "DOID:0060821",
    "recommended_name": {
        "id": "DOID:0060821",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060821",
        "name": "syndromic X-linked intellectual disability 14",
        "description": "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0060821",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060821",
            "name": "mental retardation, X-linked, syndromic 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "syndromic X-linked intellectual disability 14",
            "description": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene."
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "UPF3B X-linked syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "X-linked syndromic intellectual disability caused by mutation in UPF3B",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "intellectual developmental disorder, X-linked syndromic 14, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "intellectual disability, X-linked, syndromic 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "intellectual disability, X-linked, syndromic type 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "mental retardation, X-linked, syndromic 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "mental retardation, X-linked, syndromic type 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "syndromic X-linked intellectual disability 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "syndromic X-linked intellectual disability type 14",
            "description": ""
        },
        {
            "id": "MONDO:0010398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "name": "MRXS14",
            "description": ""
        },
        {
            "id": "MIM:300676",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300676",
            "name": "Intellectual developmental disorder, X-linked, syndromic 14",
            "description": "Intellectual developmental disorder, X-linked, syndromic 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060821"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060821",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060821",
            "categories": []
        },
        {
            "id": "MONDO:0010398",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010398",
            "categories": []
        },
        {
            "id": "MIM:300676",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300676",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QNX7-1",
            "uniprot_ac": "F1QNX7",
            "uniprot_id": "REN3B_DANRE",
            "refseq_ac": "NP_957248",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Regulator of nonsense transcripts 3B",
                    "type": "recommended"
                },
                {
                    "name": "UPF3 regulator of nonsense transcripts homolog B",
                    "type": "synonym"
                },
                {
                    "name": "UPF3B regulator of nonsense mediated mRNA decay",
                    "type": "synonym"
                },
                {
                    "name": "Up-frameshift suppressor 3 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "regulator of nonsense transcripts 3B",
                    "type": "synonym"
                },
                {
                    "name": "up-frameshift suppressor 3 homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "upf3b",
                    "type": "recommended"
                },
                {
                    "name": "rent3b",
                    "type": "synonym"
                },
                {
                    "name": "upf3b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:174674",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66390",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QNX7-1",
            "evidence": [
                {
                    "id": "0060821",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060821"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZI7-1",
            "uniprot_ac": "Q9BZI7",
            "uniprot_id": "REN3B_HUMAN",
            "refseq_ac": "NP_075386",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Regulator of nonsense transcripts 3B",
                    "type": "recommended"
                },
                {
                    "name": "Nonsense mRNA reducing factor 3B",
                    "type": "synonym"
                },
                {
                    "name": "UPF3 regulator of nonsense transcripts homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Up-frameshift suppressor 3 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Up-frameshift suppressor 3 homolog on chromosome X",
                    "type": "synonym"
                },
                {
                    "name": "hUpf3B",
                    "type": "synonym"
                },
                {
                    "name": "hUpf3p-X",
                    "type": "synonym"
                },
                {
                    "name": "nonsense mRNA reducing factor 3B",
                    "type": "synonym"
                },
                {
                    "name": "regulator of nonsense transcripts 3B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "regulator of nonsense transcripts 3B",
                    "type": "synonym"
                },
                {
                    "name": "up-frameshift suppressor 3 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "up-frameshift suppressor 3 homolog on chromosome X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UPF3B",
                    "type": "recommended"
                },
                {
                    "name": "HUPF3B",
                    "type": "synonym"
                },
                {
                    "name": "MRX62",
                    "type": "synonym"
                },
                {
                    "name": "MRX82",
                    "type": "synonym"
                },
                {
                    "name": "MRXS14",
                    "type": "synonym"
                },
                {
                    "name": "RENT3B",
                    "type": "synonym"
                },
                {
                    "name": "UPF3BP1",
                    "type": "synonym"
                },
                {
                    "name": "UPF3BP2",
                    "type": "synonym"
                },
                {
                    "name": "UPF3BP3",
                    "type": "synonym"
                },
                {
                    "name": "UPF3B",
                    "type": "synonym"
                },
                {
                    "name": "UPF3X",
                    "type": "synonym"
                },
                {
                    "name": "Upf3p-X",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZI7-1",
            "evidence": [
                {
                    "id": "300676",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300676"
                },
                {
                    "id": "0060821",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060821"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48412-1",
            "uniprot_ac": "P48412",
            "uniprot_id": "UPF3_YEAST",
            "refseq_ac": "NP_011586",
            "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": "Nonsense-mediated mRNA decay protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Up-frameshift suppressor 3",
                    "type": "synonym"
                },
                {
                    "name": "Upf3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UPF3",
                    "type": "recommended"
                },
                {
                    "name": "SUA6",
                    "type": "synonym"
                },
                {
                    "name": "SUP112",
                    "type": "synonym"
                },
                {
                    "name": "UPF3",
                    "type": "synonym"
                }
            ],
            "record_id": "P48412-1",
            "evidence": [
                {
                    "id": "0060821",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060821"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZBE8-1",
            "uniprot_ac": "D3ZBE8",
            "uniprot_id": "D3ZBE8_RAT",
            "refseq_ac": "NP_001129345",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "UPF3 regulator of nonsense transcripts homolog B",
                    "type": "synonym"
                },
                {
                    "name": "UPF3B, regulator of nonsense mediated mRNA decay",
                    "type": "synonym"
                },
                {
                    "name": "regulator of nonsense transcripts 3B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Upf3b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1560264",
                    "type": "synonym"
                },
                {
                    "name": "Upf3b",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZBE8-1",
            "evidence": [
                {
                    "id": "0060821",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060821"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1H3-1",
            "uniprot_ac": "Q9W1H3",
            "uniprot_id": "Q9W1H3_DROME",
            "refseq_ac": "NP_611844",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11184-PD",
                    "type": "synonym"
                },
                {
                    "name": "Upf3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Upf3, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Upf3-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Upf3",
                    "type": "recommended"
                },
                {
                    "name": "CG11184",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11184",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11184",
                    "type": "synonym"
                },
                {
                    "name": "UPF3",
                    "type": "synonym"
                },
                {
                    "name": "Upf3",
                    "type": "synonym"
                },
                {
                    "name": "dUPF3",
                    "type": "synonym"
                },
                {
                    "name": "upf3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1H3-1",
            "evidence": [
                {
                    "id": "0060821",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060821"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060821"
}