{
    "disease_id": "DOID:0061188",
    "recommended_name": {
        "id": "DOID:0061188",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061188",
        "name": "autosomal recessive sensory neuropathy with spastic paraplegia",
        "description": "A hereditary sensory and autonomic neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene on chromosome 5p15.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0009748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009748",
            "name": "hereditary sensory and autonomic neuropathy with spastic paraplegia",
            "description": "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia."
        },
        {
            "id": "MONDO:0009748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009748",
            "name": "HSAN with spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0009748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009748",
            "name": "hereditary sensory and autonomic neuropathy with spastic paraplegia",
            "description": ""
        },
        {
            "id": "MIM:256840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256840",
            "name": "Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive",
            "description": "Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061188"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061188",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061188",
            "categories": []
        },
        {
            "id": "MONDO:0009748",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009748",
            "categories": []
        },
        {
            "id": "MIM:256840",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256840",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P80316-1",
            "uniprot_ac": "P80316",
            "uniprot_id": "TCPE_MOUSE",
            "refseq_ac": "NP_001334964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-complex protein 1 subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CCT-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "T-complex protein 1 subunit epsilon isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "T-complex protein 1 subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "TCP-1-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin containing Tcp1, subunit 5 (epsilon)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cct5",
                    "type": "recommended"
                },
                {
                    "name": "CCT-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "Cct5",
                    "type": "synonym"
                },
                {
                    "name": "Ccte",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0098",
                    "type": "synonym"
                },
                {
                    "name": "TCP-1-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "TCPE",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0098",
                    "type": "synonym"
                }
            ],
            "record_id": "P80316-1",
            "evidence": [
                {
                    "id": "0061188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48643-1",
            "uniprot_ac": "P48643",
            "uniprot_id": "TCPE_HUMAN",
            "refseq_ac": "NP_001293084",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-complex protein 1 subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CCT-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "Chaperonin containing T-complex polypeptide 1 subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "T-complex protein 1 subunit epsilon isoform d",
                    "type": "synonym"
                },
                {
                    "name": "T-complex protein 1 subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "TCP-1-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin containing T-complex polypeptide 1 subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin containing TCP1, subunit 5 (epsilon)",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 69",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCT5",
                    "type": "recommended"
                },
                {
                    "name": "CCT-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "CCT5",
                    "type": "synonym"
                },
                {
                    "name": "CCTE",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-69",
                    "type": "synonym"
                },
                {
                    "name": "HSNSP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0098",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-102",
                    "type": "synonym"
                },
                {
                    "name": "TCP-1-epsilon",
                    "type": "synonym"
                }
            ],
            "record_id": "P48643-1",
            "evidence": [
                {
                    "id": "256840",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256840"
                },
                {
                    "id": "0061188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40413-1",
            "uniprot_ac": "P40413",
            "uniprot_id": "TCPE_YEAST",
            "refseq_ac": "NP_012598",
            "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": "T-complex protein 1 subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "CCT-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "TCP-1-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin-containing T-complex subunit CCT5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCT5",
                    "type": "recommended"
                },
                {
                    "name": "CCT5",
                    "type": "synonym"
                },
                {
                    "name": "J1752",
                    "type": "synonym"
                },
                {
                    "name": "TCP5",
                    "type": "synonym"
                }
            ],
            "record_id": "P40413-1",
            "evidence": [
                {
                    "id": "0061188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061188"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FQ0-1",
            "uniprot_ac": "Q68FQ0",
            "uniprot_id": "TCPE_RAT",
            "refseq_ac": "NP_001004078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-complex protein 1 subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CCT-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "T-complex protein 1 subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "TCP-1-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin containing Tcp1, subunit 5 (epsilon)",
                    "type": "synonym"
                },
                {
                    "name": "chaperonin subunit 5 (epsilon)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cct5",
                    "type": "recommended"
                },
                {
                    "name": "Cct5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FQ0-1",
            "evidence": [
                {
                    "id": "0061188",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061188"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061188"
}