{
    "disease_id": "DOID:0070393",
    "recommended_name": {
        "id": "DOID:0070393",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070393",
        "name": "developmental and epileptic encephalopathy 107",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070393",
            "name": "DEE107",
            "description": ""
        },
        {
            "id": "DOID:0070393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070393",
            "name": "early infantile epileptic encephalopathy 107",
            "description": ""
        },
        {
            "id": "MONDO:0031055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031055",
            "name": "developmental and epileptic encephalopathy 107",
            "description": ""
        },
        {
            "id": "MONDO:0031055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031055",
            "name": "DEE107",
            "description": ""
        },
        {
            "id": "MONDO:0031055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031055",
            "name": "developmental and epileptic encephalopathy 107",
            "description": ""
        },
        {
            "id": "MIM:620033",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620033",
            "name": "Developmental and epileptic encephalopathy 107",
            "description": "Developmental and epileptic encephalopathy 107"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070393"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070393",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070393",
            "categories": []
        },
        {
            "id": "MONDO:0031055",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031055",
            "categories": []
        },
        {
            "id": "MIM:620033",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620033",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N668-1",
            "uniprot_ac": "A0A8M1N668",
            "uniprot_id": "A0A8M1N668_DANRE",
            "refseq_ac": "NP_001018491",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-ethylmaleimide-sensitive factor attachment protein, beta a",
                    "type": "synonym"
                },
                {
                    "name": "beta-snap2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "napba",
                    "type": "recommended"
                },
                {
                    "name": "napba",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112161",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N668-1",
            "evidence": [
                {
                    "id": "0070393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28663-1",
            "uniprot_ac": "P28663",
            "uniprot_id": "SNAB_MOUSE",
            "refseq_ac": "NP_062606",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-soluble NSF attachment protein",
                    "type": "recommended"
                },
                {
                    "name": "Brain protein I47",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor attachment protein beta",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-beta",
                    "type": "synonym"
                },
                {
                    "name": "beta-soluble NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "brain protein 14",
                    "type": "synonym"
                },
                {
                    "name": "brain protein I47",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Napb",
                    "type": "recommended"
                },
                {
                    "name": "Brp14",
                    "type": "synonym"
                },
                {
                    "name": "E161",
                    "type": "synonym"
                },
                {
                    "name": "I47",
                    "type": "synonym"
                },
                {
                    "name": "Napb",
                    "type": "synonym"
                },
                {
                    "name": "SNARE",
                    "type": "synonym"
                },
                {
                    "name": "Snapb",
                    "type": "synonym"
                },
                {
                    "name": "b-SNAP",
                    "type": "synonym"
                }
            ],
            "record_id": "P28663-1",
            "evidence": [
                {
                    "id": "0070393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H115-1",
            "uniprot_ac": "Q9H115",
            "uniprot_id": "SNAB_HUMAN",
            "refseq_ac": "NP_001269947",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-soluble NSF attachment protein",
                    "type": "recommended"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor attachment protein beta",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor attachment protein, beta",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-beta",
                    "type": "synonym"
                },
                {
                    "name": "beta-soluble NSF attachment protein isoform a",
                    "type": "synonym"
                },
                {
                    "name": "beta-soluble NSF attachment protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAPB",
                    "type": "recommended"
                },
                {
                    "name": "DEE107",
                    "type": "synonym"
                },
                {
                    "name": "NAPB",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-BETA",
                    "type": "synonym"
                },
                {
                    "name": "SNAPB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H115-1",
            "evidence": [
                {
                    "id": "620033",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620033"
                },
                {
                    "id": "0070393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32602-1",
            "uniprot_ac": "P32602",
            "uniprot_id": "SEC17_YEAST",
            "refseq_ac": "NP_009503",
            "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": "Alpha-soluble NSF attachment protein",
                    "type": "recommended"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor attachment protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular-fusion protein SEC17",
                    "type": "synonym"
                },
                {
                    "name": "alpha-SNAP chaperone",
                    "type": "synonym"
                },
                {
                    "name": "alpha-soluble NSF attachment protein SEC17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC17",
                    "type": "recommended"
                },
                {
                    "name": "RNS3",
                    "type": "synonym"
                },
                {
                    "name": "SEC17",
                    "type": "synonym"
                },
                {
                    "name": "YBL0505",
                    "type": "synonym"
                },
                {
                    "name": "YBL0517",
                    "type": "synonym"
                }
            ],
            "record_id": "P32602-1",
            "evidence": [
                {
                    "id": "0070393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P85969-1",
            "uniprot_ac": "P85969",
            "uniprot_id": "SNAB_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": "Beta-soluble NSF attachment protein",
                    "type": "recommended"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor attachment protein beta",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Napb",
                    "type": "recommended"
                },
                {
                    "name": "Snapb",
                    "type": "synonym"
                }
            ],
            "record_id": "P85969-1",
            "evidence": [
                {
                    "id": "0070393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q23983-1",
            "uniprot_ac": "Q23983",
            "uniprot_id": "SNAP_DROME",
            "refseq_ac": "NP_524180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-soluble NSF attachment protein",
                    "type": "recommended"
                },
                {
                    "name": "CG6625-PA",
                    "type": "synonym"
                },
                {
                    "name": "N-ethylmaleimide-sensitive factor attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha soluble NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "alphaSnap-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 77ABa",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 77ABc",
                    "type": "synonym"
                },
                {
                    "name": "soluble N-ethylmaleimide-sensitive factor attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "soluble NSF attachment protein",
                    "type": "synonym"
                },
                {
                    "name": "soluble NSF-attachment protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alphaSnap",
                    "type": "recommended"
                },
                {
                    "name": "CG6625",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6625",
                    "type": "synonym"
                },
                {
                    "name": "SNAP",
                    "type": "synonym"
                },
                {
                    "name": "SnapII",
                    "type": "synonym"
                },
                {
                    "name": "Snap",
                    "type": "synonym"
                },
                {
                    "name": "a-Snap",
                    "type": "synonym"
                },
                {
                    "name": "aSnap",
                    "type": "synonym"
                },
                {
                    "name": "alpha-SNAP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Snap",
                    "type": "synonym"
                },
                {
                    "name": "alpha-snap",
                    "type": "synonym"
                },
                {
                    "name": "alphaSNAP",
                    "type": "synonym"
                },
                {
                    "name": "alphaSnap",
                    "type": "synonym"
                },
                {
                    "name": "dSNAP",
                    "type": "synonym"
                },
                {
                    "name": "dalpha-SNAP",
                    "type": "synonym"
                },
                {
                    "name": "dalphaSNAP",
                    "type": "synonym"
                },
                {
                    "name": "dsnap",
                    "type": "synonym"
                },
                {
                    "name": "l(3)77ABa",
                    "type": "synonym"
                },
                {
                    "name": "l(3)77ABc",
                    "type": "synonym"
                },
                {
                    "name": "snap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q23983-1",
            "evidence": [
                {
                    "id": "0070393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070393"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070393"
}