{
    "disease_id": "DOID:0080337",
    "recommended_name": {
        "id": "DOID:0080337",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080337",
        "name": "mitochondrial DNA depletion syndrome 15",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)",
            "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene."
        },
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "TFAM mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)",
            "description": ""
        },
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in TFAM",
            "description": ""
        },
        {
            "id": "MONDO:0014943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "name": "MTDPS15",
            "description": ""
        },
        {
            "id": "MIM:617156",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617156",
            "name": "Mitochondrial DNA depletion syndrome 15, hepatocerebral type",
            "description": "Mitochondrial DNA depletion syndrome 15, hepatocerebral type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080337"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080337",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080337",
            "categories": []
        },
        {
            "id": "MONDO:0014943",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014943",
            "categories": []
        },
        {
            "id": "MIM:617156",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617156",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P40630-1",
            "uniprot_ac": "P40630",
            "uniprot_id": "TFAM_MOUSE",
            "refseq_ac": "NP_033386",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "TS-HMG",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific high mobility group protein",
                    "type": "synonym"
                },
                {
                    "name": "mtTFA",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific HMG-box protein m-tsHMG",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific high mobility group protein",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor A, mitochondrial precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tfam",
                    "type": "recommended"
                },
                {
                    "name": "Hmgts",
                    "type": "synonym"
                },
                {
                    "name": "Tfam",
                    "type": "synonym"
                },
                {
                    "name": "mtTFA",
                    "type": "synonym"
                },
                {
                    "name": "tsHMG",
                    "type": "synonym"
                }
            ],
            "record_id": "P40630-1",
            "evidence": [
                {
                    "id": "0080337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00059-1",
            "uniprot_ac": "Q00059",
            "uniprot_id": "TFAM_HUMAN",
            "refseq_ac": "NP_001257711",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "MtTF1",
                    "type": "synonym"
                },
                {
                    "name": "TCF-6",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 6-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 6",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial transcription factor A",
                    "type": "synonym"
                },
                {
                    "name": "mtTFA",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 6-like 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 6-like 2 (mitochondrial transcription factor)",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 6-like 3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 6",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor A, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TFAM",
                    "type": "recommended"
                },
                {
                    "name": "MTDPS15",
                    "type": "synonym"
                },
                {
                    "name": "MTTF1",
                    "type": "synonym"
                },
                {
                    "name": "MTTFA",
                    "type": "synonym"
                },
                {
                    "name": "TCF6L1",
                    "type": "synonym"
                },
                {
                    "name": "TCF6L2",
                    "type": "synonym"
                },
                {
                    "name": "TCF6L3",
                    "type": "synonym"
                },
                {
                    "name": "TCF6",
                    "type": "synonym"
                },
                {
                    "name": "TFAM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00059-1",
            "evidence": [
                {
                    "id": "617156",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617156"
                },
                {
                    "id": "0080337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03435-1",
            "uniprot_ac": "Q03435",
            "uniprot_id": "NHP10_YEAST",
            "refseq_ac": "NP_010282",
            "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": "Non-histone protein 10",
                    "type": "recommended"
                },
                {
                    "name": "High mobility group protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Nhp10p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHP10",
                    "type": "recommended"
                },
                {
                    "name": "HMO2",
                    "type": "synonym"
                },
                {
                    "name": "NHP10",
                    "type": "synonym"
                },
                {
                    "name": "YD8119.05C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03435-1",
            "evidence": [
                {
                    "id": "0080337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02486-1",
            "uniprot_ac": "Q02486",
            "uniprot_id": "ABF2_YEAST",
            "refseq_ac": "NP_013788",
            "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": "ARS-binding factor 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein ABF2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABF2",
                    "type": "recommended"
                },
                {
                    "name": "ABF2",
                    "type": "synonym"
                },
                {
                    "name": "HIM1",
                    "type": "synonym"
                },
                {
                    "name": "YM9916.11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02486-1",
            "evidence": [
                {
                    "id": "0080337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZW1-1",
            "uniprot_ac": "Q91ZW1",
            "uniprot_id": "TFAM_RAT",
            "refseq_ac": "NP_112616",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "mtTFA",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor A, mitochondrial precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tfam",
                    "type": "recommended"
                },
                {
                    "name": "Mttfa",
                    "type": "synonym"
                },
                {
                    "name": "Tfam",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZW1-1",
            "evidence": [
                {
                    "id": "0080337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86BR8-1",
            "uniprot_ac": "Q86BR8",
            "uniprot_id": "Q86BR8_DROME",
            "refseq_ac": "NP_732527",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4217-PB",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial transcription factor A, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "TFAM-PB",
                    "type": "synonym"
                },
                {
                    "name": "mitochondiral transcription fctor a",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial transcription factor A, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial transcription factor A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TFAM",
                    "type": "recommended"
                },
                {
                    "name": "CG4217",
                    "type": "synonym"
                },
                {
                    "name": "D-mtTFA",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4217",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4217",
                    "type": "synonym"
                },
                {
                    "name": "DmtTFA",
                    "type": "synonym"
                },
                {
                    "name": "MTTFA",
                    "type": "synonym"
                },
                {
                    "name": "TFAM",
                    "type": "synonym"
                },
                {
                    "name": "Tfam",
                    "type": "synonym"
                },
                {
                    "name": "d-TFAM",
                    "type": "synonym"
                },
                {
                    "name": "d-mttfa",
                    "type": "synonym"
                },
                {
                    "name": "d-tfam",
                    "type": "synonym"
                },
                {
                    "name": "mtTFA",
                    "type": "synonym"
                },
                {
                    "name": "mttfa",
                    "type": "synonym"
                },
                {
                    "name": "tfam",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86BR8-1",
            "evidence": [
                {
                    "id": "0080337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080337"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080337"
}