{
    "disease_id": "DOID:0070377",
    "recommended_name": {
        "id": "DOID:0070377",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070377",
        "name": "developmental and epileptic encephalopathy 96",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070377",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070377",
            "name": "DEE96",
            "description": ""
        },
        {
            "id": "MONDO:0023659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023659",
            "name": "developmental and epileptic encephalopathy 96",
            "description": ""
        },
        {
            "id": "MONDO:0023659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023659",
            "name": "DEE96",
            "description": ""
        },
        {
            "id": "MIM:619340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619340",
            "name": "Developmental and epileptic encephalopathy 96",
            "description": "Developmental and epileptic encephalopathy 96"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070377"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070377",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070377",
            "categories": []
        },
        {
            "id": "MONDO:0023659",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023659",
            "categories": []
        },
        {
            "id": "MIM:619340",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619340",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PEX3-1",
            "uniprot_ac": "A0A8M9PEX3",
            "uniprot_id": "A0A8M9PEX3_DANRE",
            "refseq_ac": "XP_021325418",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-fusing ATPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-fusing ATPase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nsfa",
                    "type": "recommended"
                },
                {
                    "name": "nsfa",
                    "type": "synonym"
                },
                {
                    "name": "nsf",
                    "type": "synonym"
                },
                {
                    "name": "si:bz18k17.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj33g11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PEX3-1",
            "evidence": [
                {
                    "id": "0070377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46460-1",
            "uniprot_ac": "P46460",
            "uniprot_id": "NSF_MOUSE",
            "refseq_ac": "NP_032766",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-fusing ATPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide sensitive factor",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "NEM-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein SKD2",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of K(+) transport growth defect 2",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular-fusion protein NSF",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of K(+) transport growth defect 2",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-fusing ATPase",
                    "type": "synonym"
                },
                {
                    "name": "vesicular-fusion protein NSF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsf",
                    "type": "recommended"
                },
                {
                    "name": "Nsf",
                    "type": "synonym"
                },
                {
                    "name": "SKD2",
                    "type": "synonym"
                },
                {
                    "name": "Skd2",
                    "type": "synonym"
                }
            ],
            "record_id": "P46460-1",
            "evidence": [
                {
                    "id": "0070377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46459-1",
            "uniprot_ac": "P46459",
            "uniprot_id": "NSF_HUMAN",
            "refseq_ac": "NP_006169",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-fusing ATPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor-like protein",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "NEM-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular-fusion protein NSF",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-fusing ATPase",
                    "type": "synonym"
                },
                {
                    "name": "vesicular-fusion protein NSF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSF",
                    "type": "recommended"
                },
                {
                    "name": "DEE96",
                    "type": "synonym"
                },
                {
                    "name": "NSF",
                    "type": "synonym"
                },
                {
                    "name": "SEC18",
                    "type": "synonym"
                },
                {
                    "name": "SKD2",
                    "type": "synonym"
                }
            ],
            "record_id": "P46459-1",
            "evidence": [
                {
                    "id": "619340",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619340"
                },
                {
                    "id": "0070377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18759-1",
            "uniprot_ac": "P18759",
            "uniprot_id": "SEC18_YEAST",
            "refseq_ac": "NP_009636",
            "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": "Vesicular-fusion protein SEC18",
                    "type": "recommended"
                },
                {
                    "name": "AAA family ATPase SEC18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC18",
                    "type": "recommended"
                },
                {
                    "name": "ANU4",
                    "type": "synonym"
                },
                {
                    "name": "SEC18",
                    "type": "synonym"
                },
                {
                    "name": "YBR0736",
                    "type": "synonym"
                }
            ],
            "record_id": "P18759-1",
            "evidence": [
                {
                    "id": "0070377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QUL6-1",
            "uniprot_ac": "Q9QUL6",
            "uniprot_id": "NSF_RAT",
            "refseq_ac": "NP_068516",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-fusing ATPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "NEM-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular-fusion protein NSF",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-fusing ATPase",
                    "type": "synonym"
                },
                {
                    "name": "vesicular-fusion protein NSF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsf",
                    "type": "recommended"
                },
                {
                    "name": "Erg1",
                    "type": "synonym"
                },
                {
                    "name": "Nsf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QUL6-1",
            "evidence": [
                {
                    "id": "0070377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8ING5-1",
            "uniprot_ac": "Q8ING5",
            "uniprot_id": "Q8ING5_DROME",
            "refseq_ac": "NP_001287320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-fusing ATPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "CG31495-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG31495",
                    "type": "recommended"
                },
                {
                    "name": "CG31495",
                    "type": "synonym"
                },
                {
                    "name": "CG9931",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31495",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31495",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8ING5-1",
            "evidence": [
                {
                    "id": "0070377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070377"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46461-1",
            "uniprot_ac": "P46461",
            "uniprot_id": "NSF1_DROME",
            "refseq_ac": "NP_001259506",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-fusing ATPase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.6",
                    "type": "synonym"
                },
                {
                    "name": "CG1618-PB",
                    "type": "synonym"
                },
                {
                    "name": "N-Ethylmaleimide-sensitive factor",
                    "type": "synonym"
                },
                {
                    "name": "N-ethyl-maleimide sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor 1",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive fusion protein 1",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "NEM-sensitive fusion protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NEM-sensitive fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "NSF-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein comatose",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular-fusion protein NSF1",
                    "type": "synonym"
                },
                {
                    "name": "comatose, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "comatose",
                    "type": "synonym"
                },
                {
                    "name": "comt-PB",
                    "type": "synonym"
                },
                {
                    "name": "dNsf-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "comt",
                    "type": "recommended"
                },
                {
                    "name": "CG 1618",
                    "type": "synonym"
                },
                {
                    "name": "CG1618",
                    "type": "synonym"
                },
                {
                    "name": "Comt",
                    "type": "synonym"
                },
                {
                    "name": "DmNSF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1618",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1618",
                    "type": "synonym"
                },
                {
                    "name": "NSF 1",
                    "type": "synonym"
                },
                {
                    "name": "NSF-1",
                    "type": "synonym"
                },
                {
                    "name": "NSF1",
                    "type": "synonym"
                },
                {
                    "name": "NSF",
                    "type": "synonym"
                },
                {
                    "name": "Nsf1",
                    "type": "synonym"
                },
                {
                    "name": "Nsf",
                    "type": "synonym"
                },
                {
                    "name": "comt",
                    "type": "synonym"
                },
                {
                    "name": "com",
                    "type": "synonym"
                },
                {
                    "name": "dNSF-1",
                    "type": "synonym"
                },
                {
                    "name": "dNSF1",
                    "type": "synonym"
                },
                {
                    "name": "dNSF",
                    "type": "synonym"
                },
                {
                    "name": "dNsf1",
                    "type": "synonym"
                },
                {
                    "name": "dnsf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P46461-1",
            "evidence": [
                {
                    "id": "0070377",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070377"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070377"
}