{
    "disease_id": "DOID:0110011",
    "recommended_name": {
        "id": "DOID:0110011",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110011",
        "name": "advanced sleep phase syndrome 1",
        "description": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "DOID:0110011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110011",
            "name": "FASPS1",
            "description": ""
        },
        {
            "id": "DOID:0110011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110011",
            "name": "familial advanced sleep phase syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011442",
            "name": "advanced sleep phase syndrome 1",
            "description": "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene."
        },
        {
            "id": "MONDO:0011442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011442",
            "name": "FASPS1",
            "description": ""
        },
        {
            "id": "MONDO:0011442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011442",
            "name": "PER2 advanced sleep phase syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011442",
            "name": "advanced sleep phase syndrome caused by mutation in PER2",
            "description": ""
        },
        {
            "id": "MONDO:0011442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011442",
            "name": "advanced sleep phase syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011442",
            "name": "advanced sleep phase syndrome, familial, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011442",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011442",
            "name": "advanced sleep phase syndrome, familial, 1",
            "description": ""
        },
        {
            "id": "MIM:604348",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604348",
            "name": "Advanced sleep phase syndrome, familial, 1",
            "description": "Advanced sleep phase syndrome, familial, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110011"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110011",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110011",
            "categories": []
        },
        {
            "id": "MONDO:0011442",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011442",
            "categories": []
        },
        {
            "id": "MIM:604348",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604348",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QFB2-1",
            "uniprot_ac": "A0A8M9QFB2",
            "uniprot_id": "A0A8M9QFB2_DANRE",
            "refseq_ac": "XP_021334311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Period circadian protein homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Circadian clock protein PERIOD 2",
                    "type": "synonym"
                },
                {
                    "name": "period circadian protein homolog 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "per2",
                    "type": "recommended"
                },
                {
                    "name": "fj43b09",
                    "type": "synonym"
                },
                {
                    "name": "per2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj43b09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QFB2-1",
            "evidence": [
                {
                    "id": "0110011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54943-1",
            "uniprot_ac": "O54943",
            "uniprot_id": "PER2_MOUSE",
            "refseq_ac": "NP_035196",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Period circadian protein homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Circadian clock protein PERIOD 2",
                    "type": "synonym"
                },
                {
                    "name": "circadian clock protein PERIOD 2",
                    "type": "synonym"
                },
                {
                    "name": "mPER2",
                    "type": "synonym"
                },
                {
                    "name": "period 2",
                    "type": "synonym"
                },
                {
                    "name": "period circadian protein homolog 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "period circadian protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "period homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Per2",
                    "type": "recommended"
                },
                {
                    "name": "Per2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0347",
                    "type": "synonym"
                },
                {
                    "name": "mPer2",
                    "type": "synonym"
                }
            ],
            "record_id": "O54943-1",
            "evidence": [
                {
                    "id": "0110011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15055-1",
            "uniprot_ac": "O15055",
            "uniprot_id": "PER2_HUMAN",
            "refseq_ac": "NP_073728",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Period circadian protein homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Circadian clock protein PERIOD 2",
                    "type": "synonym"
                },
                {
                    "name": "circadian clock protein PERIOD 2",
                    "type": "synonym"
                },
                {
                    "name": "hPER2",
                    "type": "synonym"
                },
                {
                    "name": "period 2",
                    "type": "synonym"
                },
                {
                    "name": "period circadian clock 2",
                    "type": "synonym"
                },
                {
                    "name": "period circadian protein 2",
                    "type": "synonym"
                },
                {
                    "name": "period circadian protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "period homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PER2",
                    "type": "recommended"
                },
                {
                    "name": "FASPS1",
                    "type": "synonym"
                },
                {
                    "name": "FASPS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0347",
                    "type": "synonym"
                },
                {
                    "name": "PER2",
                    "type": "synonym"
                }
            ],
            "record_id": "O15055-1",
            "evidence": [
                {
                    "id": "604348",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604348"
                },
                {
                    "id": "0110011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z301-1",
            "uniprot_ac": "Q9Z301",
            "uniprot_id": "PER2_RAT",
            "refseq_ac": "NP_113866",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Period circadian protein homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Circadian clock protein PERIOD 2",
                    "type": "synonym"
                },
                {
                    "name": "circadian clock protein PERIOD 2",
                    "type": "synonym"
                },
                {
                    "name": "period circadian clock 2",
                    "type": "synonym"
                },
                {
                    "name": "period circadian protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "rPER2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Per2",
                    "type": "recommended"
                },
                {
                    "name": "Per2",
                    "type": "synonym"
                },
                {
                    "name": "rPER2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z301-1",
            "evidence": [
                {
                    "id": "0110011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07663-1",
            "uniprot_ac": "P07663",
            "uniprot_id": "PER_DROME",
            "refseq_ac": "NP_001259194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Period circadian protein",
                    "type": "recommended"
                },
                {
                    "name": "CG2647-PB",
                    "type": "synonym"
                },
                {
                    "name": "CLK-6",
                    "type": "synonym"
                },
                {
                    "name": "PERIOD",
                    "type": "synonym"
                },
                {
                    "name": "Protein clock-6",
                    "type": "synonym"
                },
                {
                    "name": "clock-6",
                    "type": "synonym"
                },
                {
                    "name": "dperiod",
                    "type": "synonym"
                },
                {
                    "name": "per-PB",
                    "type": "synonym"
                },
                {
                    "name": "period clock protein",
                    "type": "synonym"
                },
                {
                    "name": "period, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "per",
                    "type": "recommended"
                },
                {
                    "name": "CG2647",
                    "type": "synonym"
                },
                {
                    "name": "Clk",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2647",
                    "type": "synonym"
                },
                {
                    "name": "EG:155E2.4",
                    "type": "synonym"
                },
                {
                    "name": "PER",
                    "type": "synonym"
                },
                {
                    "name": "Per-2",
                    "type": "synonym"
                },
                {
                    "name": "Per",
                    "type": "synonym"
                },
                {
                    "name": "clk-6",
                    "type": "synonym"
                },
                {
                    "name": "dPER",
                    "type": "synonym"
                },
                {
                    "name": "dPer",
                    "type": "synonym"
                },
                {
                    "name": "dmper",
                    "type": "synonym"
                },
                {
                    "name": "dper",
                    "type": "synonym"
                },
                {
                    "name": "mel_per",
                    "type": "synonym"
                },
                {
                    "name": "per",
                    "type": "synonym"
                }
            ],
            "record_id": "P07663-1",
            "evidence": [
                {
                    "id": "0110011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110011"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110011"
}
