{
    "disease_id": "DOID:0070008",
    "recommended_name": {
        "id": "DOID:0070008",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070008",
        "name": "Seckel syndrome 10",
        "description": "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070008",
            "name": "SCKL10",
            "description": ""
        },
        {
            "id": "MONDO:0014991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014991",
            "name": "Seckel syndrome 10",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene."
        },
        {
            "id": "MONDO:0014991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014991",
            "name": "NSMCE2 Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014991",
            "name": "SCKL10",
            "description": ""
        },
        {
            "id": "MONDO:0014991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014991",
            "name": "Seckel syndrome 10",
            "description": ""
        },
        {
            "id": "MONDO:0014991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014991",
            "name": "Seckel syndrome caused by mutation in NSMCE2",
            "description": ""
        },
        {
            "id": "MONDO:0014991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014991",
            "name": "Seckel syndrome type 10",
            "description": ""
        },
        {
            "id": "MIM:617253",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617253",
            "name": "Seckel syndrome 10",
            "description": "Seckel syndrome 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070008"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070008",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070008",
            "categories": []
        },
        {
            "id": "MONDO:0014991",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014991",
            "categories": []
        },
        {
            "id": "MIM:617253",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617253",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91VT1-1",
            "uniprot_ac": "Q91VT1",
            "uniprot_id": "NSE2_MOUSE",
            "refseq_ac": "NP_001158076",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase NSE2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "MMS21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Non-SMC element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "non-SMC element 2 homolog (MMS21, S. cerevisiae)",
                    "type": "synonym"
                },
                {
                    "name": "non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsmce2",
                    "type": "recommended"
                },
                {
                    "name": "1110014D18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mms21",
                    "type": "synonym"
                },
                {
                    "name": "Nsmce2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VT1-1",
            "evidence": [
                {
                    "id": "0070008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MF7-1",
            "uniprot_ac": "Q96MF7",
            "uniprot_id": "NSE2_HUMAN",
            "refseq_ac": "NP_775956",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase NSE2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "MMS21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase",
                    "type": "synonym"
                },
                {
                    "name": "NSMCE2/PVT1 fusion",
                    "type": "synonym"
                },
                {
                    "name": "Non-SMC element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PVT1/NSMCE2 fusion",
                    "type": "synonym"
                },
                {
                    "name": "hMMS21",
                    "type": "synonym"
                },
                {
                    "name": "methyl methanesulfonate sensitivity gene 21",
                    "type": "synonym"
                },
                {
                    "name": "non-SMC element 2, MMS21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, MIZ-type containing 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSMCE2",
                    "type": "recommended"
                },
                {
                    "name": "C8orf36",
                    "type": "synonym"
                },
                {
                    "name": "MMS21",
                    "type": "synonym"
                },
                {
                    "name": "NSE2",
                    "type": "synonym"
                },
                {
                    "name": "NSMCE2",
                    "type": "synonym"
                },
                {
                    "name": "ZMIZ7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MF7-1",
            "evidence": [
                {
                    "id": "617253",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617253"
                },
                {
                    "id": "0070008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38632-1",
            "uniprot_ac": "P38632",
            "uniprot_id": "NSE2_YEAST",
            "refseq_ac": "NP_010896",
            "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": "E3 SUMO-protein ligase MMS21",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase MMS21",
                    "type": "synonym"
                },
                {
                    "name": "Methyl methanesulfonate-sensitivity protein 21",
                    "type": "synonym"
                },
                {
                    "name": "Non-SMC element 2",
                    "type": "synonym"
                },
                {
                    "name": "Non-structural maintenance of chromosome element 2",
                    "type": "synonym"
                },
                {
                    "name": "SUMO ligase MMS21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMS21",
                    "type": "recommended"
                },
                {
                    "name": "MMS21",
                    "type": "synonym"
                },
                {
                    "name": "NSE2",
                    "type": "synonym"
                },
                {
                    "name": "PSO10",
                    "type": "synonym"
                }
            ],
            "record_id": "P38632-1",
            "evidence": [
                {
                    "id": "0070008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8A0-1",
            "uniprot_ac": "Q4V8A0",
            "uniprot_id": "NSE2_RAT",
            "refseq_ac": "NP_001020047",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "MMS21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase",
                    "type": "synonym"
                },
                {
                    "name": "Non-SMC element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "non-SMC element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "non-SMC element 2, MMS21 homolog",
                    "type": "synonym"
                },
                {
                    "name": "non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsmce2",
                    "type": "recommended"
                },
                {
                    "name": "Mms21",
                    "type": "synonym"
                },
                {
                    "name": "Nsmce2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305156",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8A0-1",
            "evidence": [
                {
                    "id": "0070008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXT4-1",
            "uniprot_ac": "Q9VXT4",
            "uniprot_id": "Q9VXT4_DROME",
            "refseq_ac": "NP_727866",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "recommended"
                },
                {
                    "name": "CG42299-PA",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "Non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG15644",
                    "type": "recommended"
                },
                {
                    "name": "CG15644",
                    "type": "synonym"
                },
                {
                    "name": "CG18620",
                    "type": "synonym"
                },
                {
                    "name": "CG32584",
                    "type": "synonym"
                },
                {
                    "name": "CG42299",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42299",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42299",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXT3-1",
            "uniprot_ac": "Q9VXT3",
            "uniprot_id": "Q9VXT3_DROME",
            "refseq_ac": "NP_001285278",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "recommended"
                },
                {
                    "name": "CG15645-PD",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "Non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cerv-PD",
                    "type": "synonym"
                },
                {
                    "name": "cervantes, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "cervantes",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cerv",
                    "type": "recommended"
                },
                {
                    "name": "CG15645",
                    "type": "synonym"
                },
                {
                    "name": "Cerv",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15645",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15645",
                    "type": "synonym"
                },
                {
                    "name": "cerv",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVH7-1",
            "uniprot_ac": "Q9VVH7",
            "uniprot_id": "Q9VVH7_DROME",
            "refseq_ac": "NP_001261988",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "recommended"
                },
                {
                    "name": "CG13732-PB",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "Non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "qjt-PB",
                    "type": "synonym"
                },
                {
                    "name": "quijote, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "quijote",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "qjt",
                    "type": "recommended"
                },
                {
                    "name": "CG13732",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13732",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG13732",
                    "type": "synonym"
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                {
                    "name": "Nse2",
                    "type": "synonym"
                },
                {
                    "name": "Qjt",
                    "type": "synonym"
                },
                {
                    "name": "Quijote",
                    "type": "synonym"
                },
                {
                    "name": "qjt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVH7-1",
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                {
                    "id": "0070008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXT8-1",
            "uniprot_ac": "Q9VXT8",
            "uniprot_id": "Q9VXT8_DROME",
            "refseq_ac": "NP_727865",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase NSE2",
                    "type": "recommended"
                },
                {
                    "name": "CG42300-PA",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase NSE2",
                    "type": "synonym"
                },
                {
                    "name": "Non-structural maintenance of chromosomes element 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG18620",
                    "type": "recommended"
                },
                {
                    "name": "CG18620",
                    "type": "synonym"
                },
                {
                    "name": "CG32584",
                    "type": "synonym"
                },
                {
                    "name": "CG42300",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42300",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42300",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXT8-1",
            "evidence": [
                {
                    "id": "0070008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070008"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070008"
}