{
    "disease_id": "DOID:0110807",
    "recommended_name": {
        "id": "DOID:0110807",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110807",
        "name": "hereditary spastic paraplegia 55",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110807",
            "name": "SPG55",
            "description": ""
        },
        {
            "id": "DOID:0110807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110807",
            "name": "autosomal recessive spastic paraplegia 55",
            "description": ""
        },
        {
            "id": "DOID:0110807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110807",
            "name": "autosomal recessive spastic paraplegia type 55",
            "description": ""
        },
        {
            "id": "MONDO:0014020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014020",
            "name": "hereditary spastic paraplegia 55",
            "description": ""
        },
        {
            "id": "MONDO:0014020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014020",
            "name": "SPG55",
            "description": ""
        },
        {
            "id": "MONDO:0014020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014020",
            "name": "autosomal recessive spastic paraplegia type 55",
            "description": ""
        },
        {
            "id": "MONDO:0014020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014020",
            "name": "hereditary spastic paraplegia type 55",
            "description": ""
        },
        {
            "id": "MONDO:0014020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014020",
            "name": "spastic paraplegia 55, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615035",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615035",
            "name": "Spastic paraplegia 55, autosomal recessive",
            "description": "Spastic paraplegia 55, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110807"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110807",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110807",
            "categories": []
        },
        {
            "id": "MONDO:0014020",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014020",
            "categories": []
        },
        {
            "id": "MIM:615035",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615035",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5WUX7-1",
            "uniprot_ac": "A5WUX7",
            "uniprot_id": "MTRFR_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial translation release factor in rescue",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "mtrfr",
                    "type": "recommended"
                },
                {
                    "name": "C5H12orf65",
                    "type": "synonym"
                },
                {
                    "name": "gb:ct586343",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-275j6.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WUX7-1",
            "evidence": [
                {
                    "id": "0110807",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110807"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80VP5-1",
            "uniprot_ac": "Q80VP5",
            "uniprot_id": "MTRFR_MOUSE",
            "refseq_ac": "NP_001128189",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial translation release factor in rescue",
                    "type": "recommended"
                },
                {
                    "name": "Probable peptide chain release factor C12orf65 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial translation release factor in rescue isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtrfr",
                    "type": "recommended"
                },
                {
                    "name": "2810006K23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mtrfr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80VP5-1",
            "evidence": [
                {
                    "id": "0110807",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110807"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H3J6-1",
            "uniprot_ac": "Q9H3J6",
            "uniprot_id": "MTRFR_HUMAN",
            "refseq_ac": "NP_001137377",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial translation release factor in rescue",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial translation release factor in rescue",
                    "type": "synonym"
                },
                {
                    "name": "probable peptide chain release factor C12orf65, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C12orf65",
                    "type": "recommended"
                },
                {
                    "name": "MTRFR",
                    "type": "recommended"
                },
                {
                    "name": "C12orf65",
                    "type": "synonym"
                },
                {
                    "name": "COXPD7",
                    "type": "synonym"
                },
                {
                    "name": "MTRFR",
                    "type": "synonym"
                },
                {
                    "name": "My030",
                    "type": "synonym"
                },
                {
                    "name": "SPG55",
                    "type": "synonym"
                },
                {
                    "name": "mtRF-R",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H3J6-1",
            "evidence": [
                {
                    "id": "615035",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615035"
                },
                {
                    "id": "0110807",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110807"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05863-1",
            "uniprot_ac": "Q05863",
            "uniprot_id": "YL281_YEAST",
            "refseq_ac": "",
            "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": "Uncharacterized peptide chain release factor-like protein YLR281C, mitochondrial",
                    "type": "recommended"
                }
            ],
            "gene_names": [],
            "record_id": "Q05863-1",
            "evidence": [
                {
                    "id": "0110807",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110807"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAD7-1",
            "uniprot_ac": "A1ZAD7",
            "uniprot_id": "A1ZAD7_DROME",
            "refseq_ac": "NP_001286484",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prokaryotic-type class I peptide chain release factors domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG30100-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG30100",
                    "type": "recommended"
                },
                {
                    "name": "CG30100",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30100",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30100",
                    "type": "synonym"
                },
                {
                    "name": "Dromel_CG30100_FBtr0087140_mORF",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAD7-1",
            "evidence": [
                {
                    "id": "0110807",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110807"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110807"
}