{
    "disease_id": "DOID:0070007",
    "recommended_name": {
        "id": "DOID:0070007",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070007",
        "name": "Seckel syndrome 1",
        "description": "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070007",
            "name": "SCKL1",
            "description": ""
        },
        {
            "id": "DOID:0070007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070007",
            "name": "microcephalic primordial dwarfism I",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome 1",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene."
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "ATR Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "SCKL1",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome caused by mutation in ATR",
            "description": ""
        },
        {
            "id": "MONDO:0008869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "name": "Seckel syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:210600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210600",
            "name": "Seckel syndrome 1",
            "description": "Seckel syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070007"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070007",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070007",
            "categories": []
        },
        {
            "id": "MONDO:0008869",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008869",
            "categories": []
        },
        {
            "id": "MIM:210600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/210600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TEF8-1",
            "uniprot_ac": "A0A8N7TEF8",
            "uniprot_id": "A0A8N7TEF8_DANRE",
            "refseq_ac": "XP_696163",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein kinase ATR",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
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                    "name": "Ataxia telangiectasia and Rad3-related protein",
                    "type": "synonym"
                },
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                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atr",
                    "type": "recommended"
                },
                {
                    "name": "atr",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TEF8-1",
            "evidence": [
                {
                    "id": "0070007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKK8-1",
            "uniprot_ac": "Q9JKK8",
            "uniprot_id": "ATR_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase ATR",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Ataxia telangiectasia and Rad3-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atr",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa4069",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKK8-1",
            "evidence": [
                {
                    "id": "0070007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13535-1",
            "uniprot_ac": "Q13535",
            "uniprot_id": "ATR_HUMAN",
            "refseq_ac": "NP_001175",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase ATR",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "ATR serine/threonine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Ataxia telangiectasia and Rad3-related protein",
                    "type": "synonym"
                },
                {
                    "name": "FRAP-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FRAP-related protein-1",
                    "type": "synonym"
                },
                {
                    "name": "MEC1, mitosis entry checkpoint 1, homolog",
                    "type": "synonym"
                },
                {
                    "name": "ataxia telangiectasia and Rad3-related protein",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase ATR isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATR",
                    "type": "recommended"
                },
                {
                    "name": "ATR",
                    "type": "synonym"
                },
                {
                    "name": "FCTCS",
                    "type": "synonym"
                },
                {
                    "name": "FRP1",
                    "type": "synonym"
                },
                {
                    "name": "MEC1",
                    "type": "synonym"
                },
                {
                    "name": "SCKL1",
                    "type": "synonym"
                },
                {
                    "name": "SCKL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13535-1",
            "evidence": [
                {
                    "id": "210600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/210600"
                },
                {
                    "id": "0070007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38111-1",
            "uniprot_ac": "P38111",
            "uniprot_id": "ATR_YEAST",
            "refseq_ac": "NP_009694",
            "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": "Serine/threonine-protein kinase MEC1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "ATR homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA-damage checkpoint kinase MEC1",
                    "type": "synonym"
                },
                {
                    "name": "Mitosis entry checkpoint protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase MEC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MEC1",
                    "type": "recommended"
                },
                {
                    "name": "ESR1",
                    "type": "synonym"
                },
                {
                    "name": "MEC1",
                    "type": "synonym"
                },
                {
                    "name": "RAD31",
                    "type": "synonym"
                },
                {
                    "name": "SAD3",
                    "type": "synonym"
                },
                {
                    "name": "YBR1012",
                    "type": "synonym"
                }
            ],
            "record_id": "P38111-1",
            "evidence": [
                {
                    "id": "0070007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z822-1",
            "uniprot_ac": "D3Z822",
            "uniprot_id": "D3Z822_RAT",
            "refseq_ac": "NP_001414096",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase ATR",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "ATR serine/threonine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Ataxia telangiectasia and Rad3-related protein",
                    "type": "synonym"
                },
                {
                    "name": "ataxia telangiectasia and Rad3 related",
                    "type": "synonym"
                },
                {
                    "name": "ataxia telangiectasia and rad3 related-like",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase ATR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atr",
                    "type": "recommended"
                },
                {
                    "name": "Atr",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z822-1",
            "evidence": [
                {
                    "id": "0070007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXG8-1",
            "uniprot_ac": "Q9VXG8",
            "uniprot_id": "ATR_DROME",
            "refseq_ac": "NP_523369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase ATR",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "ATM-RAD3 related",
                    "type": "synonym"
                },
                {
                    "name": "ATR homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ataxia telangiectasia and Rad3-related protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG4252-PA",
                    "type": "synonym"
                },
                {
                    "name": "Meiotic protein 41",
                    "type": "synonym"
                },
                {
                    "name": "ataxia telangiectasia and Rad3 related",
                    "type": "synonym"
                },
                {
                    "name": "dATR",
                    "type": "synonym"
                },
                {
                    "name": "drosophila ATR",
                    "type": "synonym"
                },
                {
                    "name": "mei-41-PA",
                    "type": "synonym"
                },
                {
                    "name": "meiotic 41",
                    "type": "synonym"
                },
                {
                    "name": "meiotic-41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mei-41",
                    "type": "recommended"
                },
                {
                    "name": "4252",
                    "type": "synonym"
                },
                {
                    "name": "ATR",
                    "type": "synonym"
                },
                {
                    "name": "CG4252",
                    "type": "synonym"
                },
                {
                    "name": "DmATR",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4252",
                    "type": "synonym"
                },
                {
                    "name": "Dmmei41",
                    "type": "synonym"
                },
                {
                    "name": "MEI41/FRP1",
                    "type": "synonym"
                },
                {
                    "name": "MEI41",
                    "type": "synonym"
                },
                {
                    "name": "Mei-41/DATR",
                    "type": "synonym"
                },
                {
                    "name": "Mei-41",
                    "type": "synonym"
                },
                {
                    "name": "Mei41",
                    "type": "synonym"
                },
                {
                    "name": "atr",
                    "type": "synonym"
                },
                {
                    "name": "dATR",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)M37",
                    "type": "synonym"
                },
                {
                    "name": "mei-195",
                    "type": "synonym"
                },
                {
                    "name": "mei-41",
                    "type": "synonym"
                },
                {
                    "name": "mei41",
                    "type": "synonym"
                },
                {
                    "name": "meiP41",
                    "type": "synonym"
                },
                {
                    "name": "mus(1)103",
                    "type": "synonym"
                },
                {
                    "name": "mus(1)104",
                    "type": "synonym"
                },
                {
                    "name": "mus-103",
                    "type": "synonym"
                },
                {
                    "name": "mus-104",
                    "type": "synonym"
                },
                {
                    "name": "mus103",
                    "type": "synonym"
                },
                {
                    "name": "mus104",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXG8-1",
            "evidence": [
                {
                    "id": "0070007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070007"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070007"
}