{
    "disease_id": "DOID:0070454",
    "recommended_name": {
        "id": "DOID:0070454",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070454",
        "name": "hereditary spastic paraplegia 70",
        "description": "A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070454",
            "name": "SPG70",
            "description": ""
        },
        {
            "id": "DOID:0070454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070454",
            "name": "autosomal recessive spastic paraplegia 70",
            "description": ""
        },
        {
            "id": "MONDO:0018422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018422",
            "name": "autosomal recessive spastic paraplegia type 70",
            "description": "A rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities."
        },
        {
            "id": "MONDO:0018422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018422",
            "name": "SPG70",
            "description": ""
        },
        {
            "id": "MONDO:0018422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018422",
            "name": "autosomal recessive spastic paraplegia type 70",
            "description": ""
        },
        {
            "id": "MONDO:0018422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018422",
            "name": "spastic paraplegia 70, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620323",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620323",
            "name": "Spastic paraplegia 70, autosomal recessive",
            "description": "Spastic paraplegia 70, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070454"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070454",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070454",
            "categories": []
        },
        {
            "id": "MONDO:0018422",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018422",
            "categories": []
        },
        {
            "id": "MIM:620323",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620323",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TPL0-1",
            "uniprot_ac": "A0AB32TPL0",
            "uniprot_id": "A0AB32TPL0_DANRE",
            "refseq_ac": "XP_068077760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mars1",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd5106",
                    "type": "synonym"
                },
                {
                    "name": "mars1",
                    "type": "synonym"
                },
                {
                    "name": "mars",
                    "type": "synonym"
                },
                {
                    "name": "metrs",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66122",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TPL0-1",
            "evidence": [
                {
                    "id": "0070454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FL6-1",
            "uniprot_ac": "Q68FL6",
            "uniprot_id": "SYMC_MOUSE",
            "refseq_ac": "NP_001003913",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "methionyl-tRNA synthetase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mars1",
                    "type": "recommended"
                },
                {
                    "name": "Mars1",
                    "type": "synonym"
                },
                {
                    "name": "Mars",
                    "type": "synonym"
                },
                {
                    "name": "Metrs",
                    "type": "synonym"
                },
                {
                    "name": "Mtrns",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FL6-1",
            "evidence": [
                {
                    "id": "0070454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56192-1",
            "uniprot_ac": "P56192",
            "uniprot_id": "SYMC_HUMAN",
            "refseq_ac": "NP_004981",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MARS1",
                    "type": "recommended"
                },
                {
                    "name": "CMT2U",
                    "type": "synonym"
                },
                {
                    "name": "ILFS2",
                    "type": "synonym"
                },
                {
                    "name": "ILLD",
                    "type": "synonym"
                },
                {
                    "name": "MARS1",
                    "type": "synonym"
                },
                {
                    "name": "MARS",
                    "type": "synonym"
                },
                {
                    "name": "METRS",
                    "type": "synonym"
                },
                {
                    "name": "MRS",
                    "type": "synonym"
                },
                {
                    "name": "MTRNS",
                    "type": "synonym"
                },
                {
                    "name": "SPG70",
                    "type": "synonym"
                },
                {
                    "name": "TTD9",
                    "type": "synonym"
                }
            ],
            "record_id": "P56192-1",
            "evidence": [
                {
                    "id": "620323",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620323"
                },
                {
                    "id": "0070454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00958-1",
            "uniprot_ac": "P00958",
            "uniprot_id": "SYMC_YEAST",
            "refseq_ac": "NP_011780",
            "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": "Methionine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "methionine--tRNA ligase MES1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MES1",
                    "type": "recommended"
                },
                {
                    "name": "MES1",
                    "type": "synonym"
                }
            ],
            "record_id": "P00958-1",
            "evidence": [
                {
                    "id": "0070454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z941-1",
            "uniprot_ac": "D3Z941",
            "uniprot_id": "D3Z941_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mars1",
                    "type": "recommended"
                },
                {
                    "name": "Mars",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z941-1",
            "evidence": [
                {
                    "id": "0070454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZBE9-1",
            "uniprot_ac": "A1ZBE9",
            "uniprot_id": "A1ZBE9_DROME",
            "refseq_ac": "NP_611382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine--tRNA ligase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "CG15100-PA",
                    "type": "synonym"
                },
                {
                    "name": "MetRS-PA",
                    "type": "synonym"
                },
                {
                    "name": "Methionyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MetRS",
                    "type": "recommended"
                },
                {
                    "name": "CG15100",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15100",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15100",
                    "type": "synonym"
                },
                {
                    "name": "MRS",
                    "type": "synonym"
                },
                {
                    "name": "MetRS",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.15",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.15",
                    "type": "synonym"
                },
                {
                    "name": "dMetRS",
                    "type": "synonym"
                },
                {
                    "name": "p120",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZBE9-1",
            "evidence": [
                {
                    "id": "0070454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070454"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070454"
}