{
    "disease_id": "DOID:0080209",
    "recommended_name": {
        "id": "DOID:0080209",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080209",
        "name": "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",
        "description": "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26."
    },
    "synonyms": [
        {
            "id": "DOID:0080209",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080209",
            "name": "SIFD",
            "description": ""
        },
        {
            "id": "MONDO:0014487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "name": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome",
            "description": "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful."
        },
        {
            "id": "MONDO:0014487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "name": "SIFD",
            "description": ""
        },
        {
            "id": "MONDO:0014487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "name": "SIFD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "name": "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0014487",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "name": "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",
            "description": ""
        },
        {
            "id": "MIM:616084",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616084",
            "name": "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",
            "description": "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080209"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080209",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080209",
            "categories": []
        },
        {
            "id": "MONDO:0014487",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014487",
            "categories": []
        },
        {
            "id": "MIM:616084",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616084",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6NXI9-1",
            "uniprot_ac": "F6NXI9",
            "uniprot_id": "TRNT1_DANRE",
            "refseq_ac": "NP_001002159",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.72",
                    "type": "synonym"
                },
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trnt1",
                    "type": "recommended"
                },
                {
                    "name": "trnt1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86645",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NXI9-1",
            "evidence": [
                {
                    "id": "0080209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1J6-1",
            "uniprot_ac": "Q8K1J6",
            "uniprot_id": "TRNT1_MOUSE",
            "refseq_ac": "NP_001229287",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.72",
                    "type": "synonym"
                },
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial isoform a",
                    "type": "synonym"
                },
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tRNA nucleotidyl transferase, CCA-adding",
                    "type": "synonym"
                },
                {
                    "name": "mt CCA-adding enzyme",
                    "type": "synonym"
                },
                {
                    "name": "mt tRNA CCA-diphosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "mt tRNA CCA-pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "mt tRNA adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA adenylyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-nucleotidyltransferase 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trnt1",
                    "type": "recommended"
                },
                {
                    "name": "2410043H24Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610044E04Rik",
                    "type": "synonym"
                },
                {
                    "name": "9830143O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "CGI-47",
                    "type": "synonym"
                },
                {
                    "name": "Trnt1",
                    "type": "synonym"
                },
                {
                    "name": "mt-Trat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1J6-1",
            "evidence": [
                {
                    "id": "0080209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96Q11-1",
            "uniprot_ac": "Q96Q11",
            "uniprot_id": "TRNT1_HUMAN",
            "refseq_ac": "NP_001289875",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.72",
                    "type": "synonym"
                },
                {
                    "name": "ATP(CTP):tRNA nucleotidyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial tRNA nucleotidyl transferase, CCA-adding",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial CCA-adding tRNA-nucleotidyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "mt CCA-adding enzyme",
                    "type": "synonym"
                },
                {
                    "name": "mt tRNA CCA-diphosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "mt tRNA CCA-pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "mt tRNA adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA CCA nucleotidyl transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA nucleotidyl transferase, CCA-adding, 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-nucleotidyltransferase 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRNT1",
                    "type": "recommended"
                },
                {
                    "name": "CCA1",
                    "type": "synonym"
                },
                {
                    "name": "CGI-47",
                    "type": "synonym"
                },
                {
                    "name": "MtCCA",
                    "type": "synonym"
                },
                {
                    "name": "RPEM",
                    "type": "synonym"
                },
                {
                    "name": "SIFD",
                    "type": "synonym"
                },
                {
                    "name": "TRNT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96Q11-1",
            "evidence": [
                {
                    "id": "616084",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616084"
                },
                {
                    "id": "0080209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21269-1",
            "uniprot_ac": "P21269",
            "uniprot_id": "CCA1_YEAST",
            "refseq_ac": "NP_011095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCA tRNA nucleotidyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.72",
                    "type": "synonym"
                },
                {
                    "name": "CCA-adding enzyme",
                    "type": "synonym"
                },
                {
                    "name": "tRNA CCA-pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA nucleotidyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCA1",
                    "type": "recommended"
                },
                {
                    "name": "CCA1",
                    "type": "synonym"
                },
                {
                    "name": "TNT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P21269-1",
            "evidence": [
                {
                    "id": "0080209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZQ33-1",
            "uniprot_ac": "A0A8I5ZQ33",
            "uniprot_id": "A0A8I5ZQ33_RAT",
            "refseq_ac": "XP_038957086",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.72",
                    "type": "synonym"
                },
                {
                    "name": "CCA tRNA nucleotidyltransferase 1, mitochondrial-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC100911093",
                    "type": "recommended"
                },
                {
                    "name": "LOC100911093",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZQ33-1",
            "evidence": [
                {
                    "id": "0080209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNH2-1",
            "uniprot_ac": "Q9VNH2",
            "uniprot_id": "Q9VNH2_DROME",
            "refseq_ac": "NP_001163512",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG2100-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG2100",
                    "type": "recommended"
                },
                {
                    "name": "CG2100",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2100",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2100",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNH2-1",
            "evidence": [
                {
                    "id": "0080209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080209"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080209"
}