{
    "disease_id": "DOID:0070455",
    "recommended_name": {
        "id": "DOID:0070455",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070455",
        "name": "hereditary spastic paraplegia 79A",
        "description": "A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070455",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070455",
            "name": "SPG79A",
            "description": ""
        },
        {
            "id": "DOID:0070455",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070455",
            "name": "autosomal dominant spastic paraplegia 79A",
            "description": ""
        },
        {
            "id": "MONDO:0859363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859363",
            "name": "spastic paraplegia 79A, autosomal dominant, with ataxia",
            "description": ""
        },
        {
            "id": "MIM:620221",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620221",
            "name": "Spastic paraplegia 79A, autosomal dominant, with ataxia",
            "description": "Spastic paraplegia 79A, autosomal dominant, with ataxia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070455"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070455",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070455",
            "categories": []
        },
        {
            "id": "MONDO:0859363",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859363",
            "categories": []
        },
        {
            "id": "MIM:620221",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620221",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R0P9-1",
            "uniprot_ac": "Q9R0P9",
            "uniprot_id": "UCHL1_MOUSE",
            "refseq_ac": "NP_035800",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase isozyme L1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Neuron cytoplasmic protein 9.5",
                    "type": "synonym"
                },
                {
                    "name": "PGP 9.5",
                    "type": "synonym"
                },
                {
                    "name": "PGP9.5",
                    "type": "synonym"
                },
                {
                    "name": "UCH-L1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase L1",
                    "type": "synonym"
                },
                {
                    "name": "gracile axonal dystrophy",
                    "type": "synonym"
                },
                {
                    "name": "neuron cytoplasmic protein 9.5",
                    "type": "synonym"
                },
                {
                    "name": "protein gene product 9.5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase isozyme L1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase L1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uchl1",
                    "type": "recommended"
                },
                {
                    "name": "PGP 9.5",
                    "type": "synonym"
                },
                {
                    "name": "PGP9.5",
                    "type": "synonym"
                },
                {
                    "name": "UCH-L1",
                    "type": "synonym"
                },
                {
                    "name": "UCHL-1",
                    "type": "synonym"
                },
                {
                    "name": "Uchl1",
                    "type": "synonym"
                },
                {
                    "name": "gad",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0P9-1",
            "evidence": [
                {
                    "id": "0070455",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09936-1",
            "uniprot_ac": "P09936",
            "uniprot_id": "UCHL1_HUMAN",
            "refseq_ac": "NP_004172",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase isozyme L1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Neuron cytoplasmic protein 9.5",
                    "type": "synonym"
                },
                {
                    "name": "PGP 9.5",
                    "type": "synonym"
                },
                {
                    "name": "PGP9.5",
                    "type": "synonym"
                },
                {
                    "name": "UCH-L1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase L1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 117",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 53",
                    "type": "synonym"
                },
                {
                    "name": "neuron cytoplasmic protein 9.5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase isozyme L1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase L1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UCHL1",
                    "type": "recommended"
                },
                {
                    "name": "HEL-117",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-53",
                    "type": "synonym"
                },
                {
                    "name": "NDGOA",
                    "type": "synonym"
                },
                {
                    "name": "PARK5",
                    "type": "synonym"
                },
                {
                    "name": "PGP 9.5",
                    "type": "synonym"
                },
                {
                    "name": "PGP9.5",
                    "type": "synonym"
                },
                {
                    "name": "PGP95",
                    "type": "synonym"
                },
                {
                    "name": "SPG79A",
                    "type": "synonym"
                },
                {
                    "name": "SPG79",
                    "type": "synonym"
                },
                {
                    "name": "UCHL-1",
                    "type": "synonym"
                },
                {
                    "name": "UCHL1",
                    "type": "synonym"
                },
                {
                    "name": "Uch-L1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09936-1",
            "evidence": [
                {
                    "id": "620221",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620221"
                },
                {
                    "id": "0070455",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35127-1",
            "uniprot_ac": "P35127",
            "uniprot_id": "UBL1_YEAST",
            "refseq_ac": "NP_012633",
            "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": "Ubiquitin carboxyl-terminal hydrolase YUH1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "UCH",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific protease YUH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YUH1",
                    "type": "recommended"
                },
                {
                    "name": "J1941",
                    "type": "synonym"
                },
                {
                    "name": "YUH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35127-1",
            "evidence": [
                {
                    "id": "0070455",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00981-1",
            "uniprot_ac": "Q00981",
            "uniprot_id": "UCHL1_RAT",
            "refseq_ac": "NP_058933",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase isozyme L1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Neuron cytoplasmic protein 9.5",
                    "type": "synonym"
                },
                {
                    "name": "PGP 9.5",
                    "type": "synonym"
                },
                {
                    "name": "PGP9.5",
                    "type": "synonym"
                },
                {
                    "name": "UCH-L1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase L1",
                    "type": "synonym"
                },
                {
                    "name": "neuron cytoplasmic protein 9.5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxy-terminal hydrolase L1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase isozyme L1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase L1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uchl1",
                    "type": "recommended"
                },
                {
                    "name": "Uchl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00981-1",
            "evidence": [
                {
                    "id": "0070455",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35122-1",
            "uniprot_ac": "P35122",
            "uniprot_id": "UCHL_DROME",
            "refseq_ac": "NP_001188681",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "CG4265-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase",
                    "type": "synonym"
                },
                {
                    "name": "Uch-PB",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin C-terminal hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxy-terminal hydrolase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl terminal hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyterminal hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uch",
                    "type": "recommended"
                },
                {
                    "name": "CG4265",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4265",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4265",
                    "type": "synonym"
                },
                {
                    "name": "P35122",
                    "type": "synonym"
                },
                {
                    "name": "UBL",
                    "type": "synonym"
                },
                {
                    "name": "UCH-D19",
                    "type": "synonym"
                },
                {
                    "name": "UCH-D",
                    "type": "synonym"
                },
                {
                    "name": "UCH-L1",
                    "type": "synonym"
                },
                {
                    "name": "UCHL1",
                    "type": "synonym"
                },
                {
                    "name": "UCH",
                    "type": "synonym"
                },
                {
                    "name": "Uch-D",
                    "type": "synonym"
                },
                {
                    "name": "Uchl1",
                    "type": "synonym"
                },
                {
                    "name": "Uchl",
                    "type": "synonym"
                },
                {
                    "name": "Uch",
                    "type": "synonym"
                },
                {
                    "name": "cg4265",
                    "type": "synonym"
                },
                {
                    "name": "dUCH",
                    "type": "synonym"
                },
                {
                    "name": "dUch",
                    "type": "synonym"
                },
                {
                    "name": "ubc-D",
                    "type": "synonym"
                },
                {
                    "name": "uch-D",
                    "type": "synonym"
                },
                {
                    "name": "uch",
                    "type": "synonym"
                }
            ],
            "record_id": "P35122-1",
            "evidence": [
                {
                    "id": "0070455",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070455"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070455"
}