{
    "disease_id": "DOID:0070009",
    "recommended_name": {
        "id": "DOID:0070009",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070009",
        "name": "Seckel syndrome 8",
        "description": "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070009",
            "name": "SCKL8",
            "description": ""
        },
        {
            "id": "MONDO:0014350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014350",
            "name": "Seckel syndrome 8",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene."
        },
        {
            "id": "MONDO:0014350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014350",
            "name": "DNA2 Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014350",
            "name": "SCKL8",
            "description": ""
        },
        {
            "id": "MONDO:0014350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014350",
            "name": "Seckel syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0014350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014350",
            "name": "Seckel syndrome caused by mutation in DNA2",
            "description": ""
        },
        {
            "id": "MONDO:0014350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014350",
            "name": "Seckel syndrome type 8",
            "description": ""
        },
        {
            "id": "MIM:615807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615807",
            "name": "Seckel syndrome 8",
            "description": "Seckel syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070009"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070009",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070009",
            "categories": []
        },
        {
            "id": "MONDO:0014350",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014350",
            "categories": []
        },
        {
            "id": "MIM:615807",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615807",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6ZQJ5-1",
            "uniprot_ac": "Q6ZQJ5",
            "uniprot_id": "DNA2_MOUSE",
            "refseq_ac": "NP_796346",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
                    "type": "recommended"
                },
                {
                    "name": "DNA 5'-3' helicase DNA2",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication ATP-dependent helicase-like homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication helicase 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA2-like helicase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dna2",
                    "type": "recommended"
                },
                {
                    "name": "Dna2l",
                    "type": "synonym"
                },
                {
                    "name": "Dna2",
                    "type": "synonym"
                },
                {
                    "name": "E130315B21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0083",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZQJ5-1",
            "evidence": [
                {
                    "id": "0070009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51530-1",
            "uniprot_ac": "P51530",
            "uniprot_id": "DNA2_HUMAN",
            "refseq_ac": "NP_001073918",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
                    "type": "recommended"
                },
                {
                    "name": "DNA 5'-3' helicase DNA2",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication ATP-dependent helicase-like homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication helicase 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA2 DNA replication helicase 2-like",
                    "type": "synonym"
                },
                {
                    "name": "DNA2-like helicase",
                    "type": "synonym"
                },
                {
                    "name": "hDNA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNA2",
                    "type": "recommended"
                },
                {
                    "name": "DNA2L",
                    "type": "synonym"
                },
                {
                    "name": "DNA2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0083",
                    "type": "synonym"
                },
                {
                    "name": "RTS4",
                    "type": "synonym"
                },
                {
                    "name": "hDNA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51530-1",
            "evidence": [
                {
                    "id": "615807",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615807"
                },
                {
                    "id": "0070009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38859-1",
            "uniprot_ac": "P38859",
            "uniprot_id": "DNA2_YEAST",
            "refseq_ac": "NP_012034",
            "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 replication ATP-dependent helicase/nuclease DNA2",
                    "type": "recommended"
                },
                {
                    "name": "DNA 5'-3' helicase DNA2",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional ATP-dependent DNA helicase/ssDNA endodeoxyribonuclease DNA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNA2",
                    "type": "recommended"
                },
                {
                    "name": "DNA2",
                    "type": "synonym"
                },
                {
                    "name": "WEB2",
                    "type": "synonym"
                }
            ],
            "record_id": "P38859-1",
            "evidence": [
                {
                    "id": "0070009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZG52-1",
            "uniprot_ac": "D3ZG52",
            "uniprot_id": "DNA2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication ATP-dependent helicase/nuclease DNA2",
                    "type": "recommended"
                },
                {
                    "name": "DNA 5'-3' helicase DNA2",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication ATP-dependent helicase-like homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dna2",
                    "type": "recommended"
                },
                {
                    "name": "Slc25a16",
                    "type": "recommended"
                },
                {
                    "name": "Slc25a16",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZG52-1",
            "evidence": [
                {
                    "id": "0070009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62689-1",
            "uniprot_ac": "Q62689",
            "uniprot_id": "JAK2_RAT",
            "refseq_ac": "NP_113702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase JAK2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "JAK-2",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 2 (a protein tyrosine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jak2",
                    "type": "recommended"
                },
                {
                    "name": "Jak2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62689-1",
            "evidence": [
                {
                    "id": "0070009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRL9-1",
            "uniprot_ac": "Q8IRL9",
            "uniprot_id": "Q8IRL9_DROME",
            "refseq_ac": "NP_727386",
            "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 replication ATP-dependent helicase/nuclease",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CG2990-PB",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication helicase/nuclease 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Dna2-PB",
                    "type": "synonym"
                },
                {
                    "name": "mutagen-sensitive 109",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dna2",
                    "type": "recommended"
                },
                {
                    "name": "CG2990",
                    "type": "synonym"
                },
                {
                    "name": "DNA2",
                    "type": "synonym"
                },
                {
                    "name": "DmDNA2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2990",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2990",
                    "type": "synonym"
                },
                {
                    "name": "Dna2",
                    "type": "synonym"
                },
                {
                    "name": "l(1)19-65",
                    "type": "synonym"
                },
                {
                    "name": "l(1)9Aa",
                    "type": "synonym"
                },
                {
                    "name": "mus(1)107",
                    "type": "synonym"
                },
                {
                    "name": "mus(1)109",
                    "type": "synonym"
                },
                {
                    "name": "mus-109",
                    "type": "synonym"
                },
                {
                    "name": "mus107",
                    "type": "synonym"
                },
                {
                    "name": "mus109",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IRL9-1",
            "evidence": [
                {
                    "id": "0070009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070009"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070009"
}