{
    "disease_id": "DOID:0081364",
    "recommended_name": {
        "id": "DOID:0081364",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081364",
        "name": "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",
        "description": "A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0014940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014940",
            "name": "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",
            "description": ""
        },
        {
            "id": "MONDO:0014940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014940",
            "name": "NADGP",
            "description": ""
        },
        {
            "id": "MONDO:0014940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014940",
            "name": "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",
            "description": ""
        },
        {
            "id": "MONDO:0014940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014940",
            "name": "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP",
            "description": ""
        },
        {
            "id": "MIM:617145",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617145",
            "name": "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",
            "description": "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081364"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081364",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081364",
            "categories": []
        },
        {
            "id": "MONDO:0014940",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014940",
            "categories": []
        },
        {
            "id": "MIM:617145",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617145",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q64337-1",
            "uniprot_ac": "Q64337",
            "uniprot_id": "SQSTM_MOUSE",
            "refseq_ac": "NP_001277698",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sequestosome-1",
                    "type": "recommended"
                },
                {
                    "name": "STONE14",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-binding protein p62",
                    "type": "synonym"
                },
                {
                    "name": "oxidative stress induced",
                    "type": "synonym"
                },
                {
                    "name": "sequestosome-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-binding protein p62",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sqstm1",
                    "type": "recommended"
                },
                {
                    "name": "A170",
                    "type": "synonym"
                },
                {
                    "name": "OSF-6",
                    "type": "synonym"
                },
                {
                    "name": "Osi",
                    "type": "synonym"
                },
                {
                    "name": "STAP",
                    "type": "synonym"
                },
                {
                    "name": "STONE14",
                    "type": "synonym"
                },
                {
                    "name": "Sqstm1",
                    "type": "synonym"
                },
                {
                    "name": "p62",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64337-1",
            "evidence": [
                {
                    "id": "0081364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13501-1",
            "uniprot_ac": "Q13501",
            "uniprot_id": "SQSTM_HUMAN",
            "refseq_ac": "NP_001135770",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sequestosome-1",
                    "type": "recommended"
                },
                {
                    "name": "EBI3-associated protein of 60 kDa",
                    "type": "synonym"
                },
                {
                    "name": "EBI3-associated protein p60",
                    "type": "synonym"
                },
                {
                    "name": "EBIAP",
                    "type": "synonym"
                },
                {
                    "name": "Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-binding protein p62",
                    "type": "synonym"
                },
                {
                    "name": "autophagy receptor p62",
                    "type": "synonym"
                },
                {
                    "name": "oxidative stress induced like",
                    "type": "synonym"
                },
                {
                    "name": "p60",
                    "type": "synonym"
                },
                {
                    "name": "p62",
                    "type": "synonym"
                },
                {
                    "name": "phosphotyrosine independent ligand for the Lck SH2 domain p62",
                    "type": "synonym"
                },
                {
                    "name": "phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa",
                    "type": "synonym"
                },
                {
                    "name": "sequestosome-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-binding protein p62",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SQSTM1",
                    "type": "recommended"
                },
                {
                    "name": "A170",
                    "type": "synonym"
                },
                {
                    "name": "DMRV",
                    "type": "synonym"
                },
                {
                    "name": "EBIAP",
                    "type": "synonym"
                },
                {
                    "name": "FTDALS3",
                    "type": "synonym"
                },
                {
                    "name": "NADGP",
                    "type": "synonym"
                },
                {
                    "name": "ORCA",
                    "type": "synonym"
                },
                {
                    "name": "OSIL",
                    "type": "synonym"
                },
                {
                    "name": "PDB3",
                    "type": "synonym"
                },
                {
                    "name": "SQSTM1",
                    "type": "synonym"
                },
                {
                    "name": "ZIP3",
                    "type": "synonym"
                },
                {
                    "name": "p60",
                    "type": "synonym"
                },
                {
                    "name": "p62B",
                    "type": "synonym"
                },
                {
                    "name": "p62",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13501-1",
            "evidence": [
                {
                    "id": "617145",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617145"
                },
                {
                    "id": "0081364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08623-1",
            "uniprot_ac": "O08623",
            "uniprot_id": "SQSTM_RAT",
            "refseq_ac": "NP_787037",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sequestosome-1",
                    "type": "recommended"
                },
                {
                    "name": "PKC-zeta-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C-zeta-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-binding protein p62",
                    "type": "synonym"
                },
                {
                    "name": "oxidative stress induced",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C-zeta-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "sequestosome-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-binding protein p62",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sqstm1",
                    "type": "recommended"
                },
                {
                    "name": "Osi",
                    "type": "synonym"
                },
                {
                    "name": "Sqstm1",
                    "type": "synonym"
                },
                {
                    "name": "ZIP3",
                    "type": "synonym"
                },
                {
                    "name": "ZIP",
                    "type": "synonym"
                },
                {
                    "name": "Zip",
                    "type": "synonym"
                }
            ],
            "record_id": "O08623-1",
            "evidence": [
                {
                    "id": "0081364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14199-1",
            "uniprot_ac": "P14199",
            "uniprot_id": "REF2P_DROME",
            "refseq_ac": "NP_001014491",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein ref(2)P",
                    "type": "recommended"
                },
                {
                    "name": "CG10360-PB",
                    "type": "synonym"
                },
                {
                    "name": "Refractory to sigma P",
                    "type": "synonym"
                },
                {
                    "name": "p62 polyubiquitin",
                    "type": "synonym"
                },
                {
                    "name": "ref(2)P-PB",
                    "type": "synonym"
                },
                {
                    "name": "refractaire(2)Paris",
                    "type": "synonym"
                },
                {
                    "name": "refractory to sigma P, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "refractory to sigma P",
                    "type": "synonym"
                },
                {
                    "name": "sequestosome-1",
                    "type": "synonym"
                },
                {
                    "name": "sequestosome",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ref(2)P",
                    "type": "recommended"
                },
                {
                    "name": "CG10360",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10360",
                    "type": "synonym"
                },
                {
                    "name": "P62",
                    "type": "synonym"
                },
                {
                    "name": "Ref(2)P/p62",
                    "type": "synonym"
                },
                {
                    "name": "Ref(2)P",
                    "type": "synonym"
                },
                {
                    "name": "Ref(2)p",
                    "type": "synonym"
                },
                {
                    "name": "Ref(2P)",
                    "type": "synonym"
                },
                {
                    "name": "Ref2(P)",
                    "type": "synonym"
                },
                {
                    "name": "Ref2P",
                    "type": "synonym"
                },
                {
                    "name": "Ref2p",
                    "type": "synonym"
                },
                {
                    "name": "Ref2",
                    "type": "synonym"
                },
                {
                    "name": "SQSTM1",
                    "type": "synonym"
                },
                {
                    "name": "dP62",
                    "type": "synonym"
                },
                {
                    "name": "p62/Ref(2)P",
                    "type": "synonym"
                },
                {
                    "name": "p62",
                    "type": "synonym"
                },
                {
                    "name": "p63",
                    "type": "synonym"
                },
                {
                    "name": "ref(2)Pn",
                    "type": "synonym"
                },
                {
                    "name": "ref(2)Po2",
                    "type": "synonym"
                },
                {
                    "name": "ref(2)P",
                    "type": "synonym"
                },
                {
                    "name": "ref(2)p",
                    "type": "synonym"
                },
                {
                    "name": "ref2p",
                    "type": "synonym"
                },
                {
                    "name": "ref",
                    "type": "synonym"
                }
            ],
            "record_id": "P14199-1",
            "evidence": [
                {
                    "id": "0081364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081364"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081364"
}