{
    "disease_id": "DOID:0111203",
    "recommended_name": {
        "id": "DOID:0111203",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111203",
        "name": "autosomal dominant distal hereditary motor neuronopathy 5",
        "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14."
    },
    "synonyms": [
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "distal spinal muscular atrophy with upper limb predominance",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "DHMN5",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "DSMAV",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "HMN5",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "distal HMN V",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "distal HMN VA",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "distal hereditary motor neuropathy type V",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "distal spinal muscular atrophy type V",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "distal spinal muscular atrophy type VA",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "distal hereditary motor neuronopathy type 5",
            "description": ""
        },
        {
            "id": "DOID:0111203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "name": "distal hereditary motor neuronopathy type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "neuronopathy, distal hereditary motor, type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "dHMN5",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "distal HMN V",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "distal hereditary motor neuropathy type V",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "distal spinal muscular atrophy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "neuronopathy, distal hereditary motor, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "spinal muscular atrophy, distal, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "HMN 5A",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "HMN5A",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "dHMN 5A",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "neuronopathy, distal hereditary motor, type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "neuronopathy, distal hereditary motor, type VA",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "neuropathy, distal hereditary motor, type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "spinal muscular atrophy, distal, type 5A",
            "description": ""
        },
        {
            "id": "MONDO:0015353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "name": "spinal muscular atrophy, distal, with upper limb predominance",
            "description": ""
        },
        {
            "id": "MIM:600794",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600794",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 5",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111203"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111203",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111203",
            "categories": []
        },
        {
            "id": "MONDO:0015353",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015353",
            "categories": []
        },
        {
            "id": "MIM:600794",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600794",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A8A7-1",
            "uniprot_ac": "A0AB13A8A7",
            "uniprot_id": "A0AB13A8A7_DANRE",
            "refseq_ac": "NP_001373382",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.14",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "glycine--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "metronome",
                    "type": "synonym"
                },
                {
                    "name": "mrn",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gars1",
                    "type": "recommended"
                },
                {
                    "name": "gars1",
                    "type": "synonym"
                },
                {
                    "name": "gars",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-276i5.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb02f03",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A8A7-1",
            "evidence": [
                {
                    "id": "0111203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CZD3-1",
            "uniprot_ac": "Q9CZD3",
            "uniprot_id": "GARS_MOUSE",
            "refseq_ac": "NP_851009",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.14",
                    "type": "synonym"
                },
                {
                    "name": "AP-4-A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Ap4A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "ap4A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glyRS",
                    "type": "synonym"
                },
                {
                    "name": "glycine--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "storage granule protein 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gars1",
                    "type": "recommended"
                },
                {
                    "name": "GENA202",
                    "type": "synonym"
                },
                {
                    "name": "Gars1",
                    "type": "synonym"
                },
                {
                    "name": "Gars",
                    "type": "synonym"
                },
                {
                    "name": "Gena201",
                    "type": "synonym"
                },
                {
                    "name": "Nmf249",
                    "type": "synonym"
                },
                {
                    "name": "Sgrp23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZD3-1",
            "evidence": [
                {
                    "id": "0111203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41250-1",
            "uniprot_ac": "P41250",
            "uniprot_id": "GARS_HUMAN",
            "refseq_ac": "NP_001303701",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.14",
                    "type": "synonym"
                },
                {
                    "name": "AP-4-A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Ap4A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Charcot-Marie-Tooth neuropathy 2D",
                    "type": "synonym"
                },
                {
                    "name": "Charcot-Marie-Tooth neuropathy, neuronal type, D",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "ap4A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glycine--tRNA ligase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "glycine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GARS1",
                    "type": "recommended"
                },
                {
                    "name": "CMT2D",
                    "type": "synonym"
                },
                {
                    "name": "DSMAV",
                    "type": "synonym"
                },
                {
                    "name": "GARS1",
                    "type": "synonym"
                },
                {
                    "name": "GARS",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS",
                    "type": "synonym"
                },
                {
                    "name": "HMN5A",
                    "type": "synonym"
                },
                {
                    "name": "HMN5",
                    "type": "synonym"
                },
                {
                    "name": "HMND5",
                    "type": "synonym"
                },
                {
                    "name": "SMAD1",
                    "type": "synonym"
                },
                {
                    "name": "SMAJI",
                    "type": "synonym"
                }
            ],
            "record_id": "P41250-1",
            "evidence": [
                {
                    "id": "600794",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600794"
                },
                {
                    "id": "0111203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38088-1",
            "uniprot_ac": "P38088",
            "uniprot_id": "SYG_YEAST",
            "refseq_ac": "NP_009679",
            "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": "Glycine--tRNA ligase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.14",
                    "type": "synonym"
                },
                {
                    "name": "Ap4A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS 1",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS1",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "glycine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRS1",
                    "type": "recommended"
                },
                {
                    "name": "GRS1",
                    "type": "synonym"
                },
                {
                    "name": "YBR0917",
                    "type": "synonym"
                }
            ],
            "record_id": "P38088-1",
            "evidence": [
                {
                    "id": "0111203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06817-1",
            "uniprot_ac": "Q06817",
            "uniprot_id": "SYG2_YEAST",
            "refseq_ac": "NP_015406",
            "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": "Glycine--tRNA ligase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.14",
                    "type": "synonym"
                },
                {
                    "name": "Ap4A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS 2",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS2",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase 2",
                    "type": "synonym"
                },
                {
                    "name": "putative glycine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRS2",
                    "type": "recommended"
                },
                {
                    "name": "GRS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06817-1",
            "evidence": [
                {
                    "id": "0111203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0G4-1",
            "uniprot_ac": "Q5I0G4",
            "uniprot_id": "GARS_RAT",
            "refseq_ac": "NP_001258068",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.14",
                    "type": "synonym"
                },
                {
                    "name": "AP-4-A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Ap4A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "ap4A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glycine--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gars1",
                    "type": "recommended"
                },
                {
                    "name": "Gars1",
                    "type": "synonym"
                },
                {
                    "name": "Gars",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS",
                    "type": "synonym"
                },
                {
                    "name": "RGD1559871",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0G4-1",
            "evidence": [
                {
                    "id": "0111203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUK8-1",
            "uniprot_ac": "Q9VUK8",
            "uniprot_id": "GARS_DROME",
            "refseq_ac": "NP_001261867",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.-",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.14",
                    "type": "synonym"
                },
                {
                    "name": "CG6778-PC",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine tetraphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS-PC",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Glycyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glycyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "terminal arbors missing",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GlyRS",
                    "type": "recommended"
                },
                {
                    "name": "Aat-gly",
                    "type": "synonym"
                },
                {
                    "name": "Aats-gly",
                    "type": "synonym"
                },
                {
                    "name": "CG6778",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6778",
                    "type": "synonym"
                },
                {
                    "name": "GARS",
                    "type": "synonym"
                },
                {
                    "name": "GRS",
                    "type": "synonym"
                },
                {
                    "name": "Gars",
                    "type": "synonym"
                },
                {
                    "name": "GlyRS",
                    "type": "synonym"
                },
                {
                    "name": "aaRS(Gly)",
                    "type": "synonym"
                },
                {
                    "name": "dGARS1",
                    "type": "synonym"
                },
                {
                    "name": "dGARS",
                    "type": "synonym"
                },
                {
                    "name": "dGars",
                    "type": "synonym"
                },
                {
                    "name": "gars",
                    "type": "synonym"
                },
                {
                    "name": "team",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUK8-1",
            "evidence": [
                {
                    "id": "0111203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111203"
}