{
    "disease_id": "DOID:0081385",
    "recommended_name": {
        "id": "DOID:0081385",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081385",
        "name": "ataxia-telangiectasia-like disorder 2",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12."
    },
    "synonyms": [
        {
            "id": "DOID:0081385",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081385",
            "name": "PCNA-related progressive neurodegenerative photosensitivity syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014399",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014399",
            "name": "ataxia-telangiectasia-like disorder 2",
            "description": ""
        },
        {
            "id": "MONDO:0014399",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014399",
            "name": "ataxia-telangiectasia-like disorder 2",
            "description": ""
        },
        {
            "id": "MONDO:0014399",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014399",
            "name": "ataxia-telangiectasia-like disorder type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014399",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014399",
            "name": "ATLD2",
            "description": ""
        },
        {
            "id": "MIM:615919",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615919",
            "name": "Ataxia-telangiectasia-like disorder 2",
            "description": "Ataxia-telangiectasia-like disorder 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081385"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081385",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081385",
            "categories": []
        },
        {
            "id": "MONDO:0014399",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014399",
            "categories": []
        },
        {
            "id": "MIM:615919",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615919",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9PTP1-1",
            "uniprot_ac": "Q9PTP1",
            "uniprot_id": "PCNA_DANRE",
            "refseq_ac": "NP_571479",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA sliding clamp PCNA",
                    "type": "recommended"
                },
                {
                    "name": "DNA sliding clamp PCNA",
                    "type": "synonym"
                },
                {
                    "name": "PCNA",
                    "type": "synonym"
                },
                {
                    "name": "Proliferating cell nuclear antigen",
                    "type": "synonym"
                },
                {
                    "name": "etID36690.10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pcna",
                    "type": "recommended"
                },
                {
                    "name": "cb16",
                    "type": "synonym"
                },
                {
                    "name": "fa28e03",
                    "type": "synonym"
                },
                {
                    "name": "fb36g03",
                    "type": "synonym"
                },
                {
                    "name": "pcna",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa28e03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb36g03",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9PTP1-1",
            "evidence": [
                {
                    "id": "0081385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17918-1",
            "uniprot_ac": "P17918",
            "uniprot_id": "PCNA_MOUSE",
            "refseq_ac": "NP_035175",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA sliding clamp PCNA",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin",
                    "type": "synonym"
                },
                {
                    "name": "DNA sliding clamp PCNA",
                    "type": "synonym"
                },
                {
                    "name": "PCNA",
                    "type": "synonym"
                },
                {
                    "name": "Proliferating cell nuclear antigen",
                    "type": "synonym"
                },
                {
                    "name": "cyclin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcna",
                    "type": "recommended"
                },
                {
                    "name": "Pcna",
                    "type": "synonym"
                }
            ],
            "record_id": "P17918-1",
            "evidence": [
                {
                    "id": "0081385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12004-1",
            "uniprot_ac": "P12004",
            "uniprot_id": "PCNA_HUMAN",
            "refseq_ac": "NP_002583",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA sliding clamp PCNA",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase delta auxiliary protein",
                    "type": "synonym"
                },
                {
                    "name": "DNA sliding clamp PCNA",
                    "type": "synonym"
                },
                {
                    "name": "PCNA",
                    "type": "synonym"
                },
                {
                    "name": "Proliferating cell nuclear antigen",
                    "type": "synonym"
                },
                {
                    "name": "cyclin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCNA",
                    "type": "recommended"
                },
                {
                    "name": "ATLD2",
                    "type": "synonym"
                },
                {
                    "name": "PCNA",
                    "type": "synonym"
                }
            ],
            "record_id": "P12004-1",
            "evidence": [
                {
                    "id": "615919",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615919"
                },
                {
                    "id": "0081385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15873-1",
            "uniprot_ac": "P15873",
            "uniprot_id": "PCNA_YEAST",
            "refseq_ac": "NP_009645",
            "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": "DNA sliding clamp PCNA",
                    "type": "recommended"
                },
                {
                    "name": "PCNA",
                    "type": "synonym"
                },
                {
                    "name": "Proliferating cell nuclear antigen",
                    "type": "synonym"
                },
                {
                    "name": "proliferating cell nuclear antigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POL30",
                    "type": "recommended"
                },
                {
                    "name": "POL30",
                    "type": "synonym"
                },
                {
                    "name": "YBR0811",
                    "type": "synonym"
                }
            ],
            "record_id": "P15873-1",
            "evidence": [
                {
                    "id": "0081385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04961-1",
            "uniprot_ac": "P04961",
            "uniprot_id": "PCNA_RAT",
            "refseq_ac": "NP_071776",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA sliding clamp PCNA",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin",
                    "type": "synonym"
                },
                {
                    "name": "DNA sliding clamp PCNA",
                    "type": "synonym"
                },
                {
                    "name": "PCNA",
                    "type": "synonym"
                },
                {
                    "name": "Proliferating cell nuclear antigen",
                    "type": "synonym"
                },
                {
                    "name": "cyclin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcna",
                    "type": "recommended"
                },
                {
                    "name": "PCNAR",
                    "type": "synonym"
                },
                {
                    "name": "Pcna/cyclin",
                    "type": "synonym"
                },
                {
                    "name": "Pcna",
                    "type": "synonym"
                }
            ],
            "record_id": "P04961-1",
            "evidence": [
                {
                    "id": "0081385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17917-1",
            "uniprot_ac": "P17917",
            "uniprot_id": "PCNA_DROME",
            "refseq_ac": "NP_476905",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA sliding clamp PCNA",
                    "type": "recommended"
                },
                {
                    "name": "CG9193-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin",
                    "type": "synonym"
                },
                {
                    "name": "Mutagen-sensitive 209 protein",
                    "type": "synonym"
                },
                {
                    "name": "PCNA-PA",
                    "type": "synonym"
                },
                {
                    "name": "PCNA",
                    "type": "synonym"
                },
                {
                    "name": "Proliferating cell nuclear antigen",
                    "type": "synonym"
                },
                {
                    "name": "Proliferating-cell-nuclear-antigen",
                    "type": "synonym"
                },
                {
                    "name": "mutagen-sensitive 209",
                    "type": "synonym"
                },
                {
                    "name": "proliferating cell nuclear antigen, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "proliferating cell nuclear antigen",
                    "type": "synonym"
                },
                {
                    "name": "proliferating-cell nuclear antigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCNA",
                    "type": "recommended"
                },
                {
                    "name": "53/13",
                    "type": "synonym"
                },
                {
                    "name": "CG9193",
                    "type": "synonym"
                },
                {
                    "name": "DmPCNA1",
                    "type": "synonym"
                },
                {
                    "name": "DmPCNA",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9193",
                    "type": "synonym"
                },
                {
                    "name": "MUS209",
                    "type": "synonym"
                },
                {
                    "name": "Mus209",
                    "type": "synonym"
                },
                {
                    "name": "PCNA/mus209",
                    "type": "synonym"
                },
                {
                    "name": "PCNA1",
                    "type": "synonym"
                },
                {
                    "name": "PCNA",
                    "type": "synonym"
                },
                {
                    "name": "Pcna",
                    "type": "synonym"
                },
                {
                    "name": "dPCNA",
                    "type": "synonym"
                },
                {
                    "name": "l(2)02448",
                    "type": "synonym"
                },
                {
                    "name": "l(2)56Fa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)56F",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s1534",
                    "type": "synonym"
                },
                {
                    "name": "mus 209",
                    "type": "synonym"
                },
                {
                    "name": "mus209",
                    "type": "synonym"
                },
                {
                    "name": "pcna",
                    "type": "synonym"
                }
            ],
            "record_id": "P17917-1",
            "evidence": [
                {
                    "id": "0081385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIT0-1",
            "uniprot_ac": "Q9VIT0",
            "uniprot_id": "PCNA2_DROME",
            "refseq_ac": "NP_609994",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA sliding clamp PCNA2",
                    "type": "recommended"
                },
                {
                    "name": "CG10262-PA",
                    "type": "synonym"
                },
                {
                    "name": "PCNA2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Proliferating cell nuclear antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "proliferating cell nuclear antigen 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCNA2",
                    "type": "recommended"
                },
                {
                    "name": "CG10262",
                    "type": "synonym"
                },
                {
                    "name": "DmPCNA2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10262",
                    "type": "synonym"
                },
                {
                    "name": "PCNA2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIT0-1",
            "evidence": [
                {
                    "id": "0081385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081385"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081385"
}