{
    "disease_id": "DOID:0080436",
    "recommended_name": {
        "id": "DOID:0080436",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080436",
        "name": "developmental and epileptic encephalopathy 4",
        "description": "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1."
    },
    "synonyms": [
        {
            "id": "DOID:0080436",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080436",
            "name": "DEE4",
            "description": ""
        },
        {
            "id": "DOID:0080436",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080436",
            "name": "early infantile epileptic encephalopathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "developmental and epileptic encephalopathy, 4",
            "description": "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition."
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "DEE4",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "EIEE4",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "STXBP1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "STXBP1-related encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "developmental and epileptic encephalopathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "developmental and epileptic encephalopathy, 4",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "early infantile epileptic encephalopathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "early infantile epileptic encephalopathy caused by mutation in STXBP1",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "epileptic encephalopathy, early infantile, 4",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "epileptic encephalopathy, early infantile, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "name": "STXBP1-related early-onset encephalopathy",
            "description": ""
        },
        {
            "id": "MIM:612164",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612164",
            "name": "Developmental and epileptic encephalopathy 4",
            "description": "Developmental and epileptic encephalopathy 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080436"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080436",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080436",
            "categories": []
        },
        {
            "id": "MONDO:0012812",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012812",
            "categories": []
        },
        {
            "id": "MIM:612164",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612164",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IQM9-1",
            "uniprot_ac": "A0A0R4IQM9",
            "uniprot_id": "A0A0R4IQM9_DANRE",
            "refseq_ac": "XP_005161170",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stxbp1a",
                    "type": "recommended"
                },
                {
                    "name": "fj43h10",
                    "type": "synonym"
                },
                {
                    "name": "stxbp1a",
                    "type": "synonym"
                },
                {
                    "name": "stxbp1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj36d12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj43h10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114171",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IQM9-1",
            "evidence": [
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08599-1",
            "uniprot_ac": "O08599",
            "uniprot_id": "STXB1_MOUSE",
            "refseq_ac": "NP_001107041",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "UNC-18 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18A",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-1",
                    "type": "synonym"
                },
                {
                    "name": "minisatellite 10g detected by probe MMS10",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "unc-18-1",
                    "type": "synonym"
                },
                {
                    "name": "unc-18A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stxbp1",
                    "type": "recommended"
                },
                {
                    "name": "MMS10-G",
                    "type": "synonym"
                },
                {
                    "name": "Ms10g",
                    "type": "synonym"
                },
                {
                    "name": "Munc-18a",
                    "type": "synonym"
                },
                {
                    "name": "Munc18-1",
                    "type": "synonym"
                },
                {
                    "name": "N-sec1",
                    "type": "synonym"
                },
                {
                    "name": "Rb-sec1",
                    "type": "synonym"
                },
                {
                    "name": "Stxbp1",
                    "type": "synonym"
                },
                {
                    "name": "Sxtbp1",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-1",
                    "type": "synonym"
                },
                {
                    "name": "Unc18h",
                    "type": "synonym"
                },
                {
                    "name": "nsec1",
                    "type": "synonym"
                }
            ],
            "record_id": "O08599-1",
            "evidence": [
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64324-1",
            "uniprot_ac": "Q64324",
            "uniprot_id": "STXB2_MOUSE",
            "refseq_ac": "NP_035633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Munc-18b",
                    "type": "synonym"
                },
                {
                    "name": "Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18B",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-2",
                    "type": "synonym"
                },
                {
                    "name": "muSec1",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin binding protein Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stxbp2",
                    "type": "recommended"
                },
                {
                    "name": "Munc-18-2",
                    "type": "synonym"
                },
                {
                    "name": "Munc-18b",
                    "type": "synonym"
                },
                {
                    "name": "Munc18b",
                    "type": "synonym"
                },
                {
                    "name": "Stxbp2",
                    "type": "synonym"
                },
                {
                    "name": "Sxtbp2",
                    "type": "synonym"
                },
                {
                    "name": "Sxtp2",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-2",
                    "type": "synonym"
                },
                {
                    "name": "Unc18b",
                    "type": "synonym"
                },
                {
                    "name": "muSec1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64324-1",
            "evidence": [
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61764-1",
            "uniprot_ac": "P61764",
            "uniprot_id": "STXB1_HUMAN",
            "refseq_ac": "NP_001027392",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "MUNC18-1",
                    "type": "synonym"
                },
                {
                    "name": "N-Sec1",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18A",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-1",
                    "type": "synonym"
                },
                {
                    "name": "neuronal SEC1",
                    "type": "synonym"
                },
                {
                    "name": "p67",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 1 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STXBP1",
                    "type": "recommended"
                },
                {
                    "name": "DEE4",
                    "type": "synonym"
                },
                {
                    "name": "MUNC18-1",
                    "type": "synonym"
                },
                {
                    "name": "N-Sec1",
                    "type": "synonym"
                },
                {
                    "name": "NSEC1",
                    "type": "synonym"
                },
                {
                    "name": "P67",
                    "type": "synonym"
                },
                {
                    "name": "RBSEC1",
                    "type": "synonym"
                },
                {
                    "name": "STXBP1",
                    "type": "synonym"
                },
                {
                    "name": "UNC18A",
                    "type": "synonym"
                },
                {
                    "name": "UNC18",
                    "type": "synonym"
                },
                {
                    "name": "unc-18A",
                    "type": "synonym"
                },
                {
                    "name": "unc18-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P61764-1",
            "evidence": [
                {
                    "id": "612164",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612164"
                },
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30619-1",
            "uniprot_ac": "P30619",
            "uniprot_id": "SEC1_YEAST",
            "refseq_ac": "NP_010448",
            "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": "Protein transport protein SEC1",
                    "type": "recommended"
                },
                {
                    "name": "Sec1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC1",
                    "type": "recommended"
                },
                {
                    "name": "SEC1",
                    "type": "synonym"
                },
                {
                    "name": "YD8358.18C",
                    "type": "synonym"
                }
            ],
            "record_id": "P30619-1",
            "evidence": [
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61765-1",
            "uniprot_ac": "P61765",
            "uniprot_id": "STXB1_RAT",
            "refseq_ac": "NP_037170",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "N-Sec1",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18A",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-1",
                    "type": "synonym"
                },
                {
                    "name": "p67",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "rbSec1",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "unc-18 homolog",
                    "type": "synonym"
                },
                {
                    "name": "unc-18-1",
                    "type": "synonym"
                },
                {
                    "name": "unc-18A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stxbp1",
                    "type": "recommended"
                },
                {
                    "name": "ANC18HA",
                    "type": "synonym"
                },
                {
                    "name": "Munc18-1",
                    "type": "synonym"
                },
                {
                    "name": "NSEC1A",
                    "type": "synonym"
                },
                {
                    "name": "Sec1",
                    "type": "synonym"
                },
                {
                    "name": "Stxbp1",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-1",
                    "type": "synonym"
                },
                {
                    "name": "Unc18a",
                    "type": "synonym"
                },
                {
                    "name": "n-sec1",
                    "type": "synonym"
                },
                {
                    "name": "nSec1",
                    "type": "synonym"
                },
                {
                    "name": "rbSec1A",
                    "type": "synonym"
                },
                {
                    "name": "rbSec1B",
                    "type": "synonym"
                },
                {
                    "name": "rbSec1",
                    "type": "synonym"
                }
            ],
            "record_id": "P61765-1",
            "evidence": [
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62753-1",
            "uniprot_ac": "Q62753",
            "uniprot_id": "STXB2_RAT",
            "refseq_ac": "NP_112388",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18B",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-2",
                    "type": "synonym"
                },
                {
                    "name": "munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin binding protein Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "unc-18B",
                    "type": "synonym"
                },
                {
                    "name": "unc18-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stxbp2",
                    "type": "recommended"
                },
                {
                    "name": "Munc18b",
                    "type": "synonym"
                },
                {
                    "name": "Stxbp2",
                    "type": "synonym"
                },
                {
                    "name": "Unc18b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62753-1",
            "evidence": [
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07327-1",
            "uniprot_ac": "Q07327",
            "uniprot_id": "ROP_DROME",
            "refseq_ac": "NP_001261404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein ROP",
                    "type": "recommended"
                },
                {
                    "name": "CG15811-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ras opposite, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rop-PB",
                    "type": "synonym"
                },
                {
                    "name": "ras opposite",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rop",
                    "type": "recommended"
                },
                {
                    "name": "CG15811",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15811",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15811",
                    "type": "synonym"
                },
                {
                    "name": "ROP",
                    "type": "synonym"
                },
                {
                    "name": "Rop",
                    "type": "synonym"
                },
                {
                    "name": "SEC1",
                    "type": "synonym"
                },
                {
                    "name": "Unc18",
                    "type": "synonym"
                },
                {
                    "name": "cs1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)64Ah",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SH16",
                    "type": "synonym"
                },
                {
                    "name": "ras2",
                    "type": "synonym"
                },
                {
                    "name": "rop(Sec1)",
                    "type": "synonym"
                },
                {
                    "name": "rop",
                    "type": "synonym"
                },
                {
                    "name": "sec1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07327-1",
            "evidence": [
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49356-1",
            "uniprot_ac": "P49356",
            "uniprot_id": "FNTB_HUMAN",
            "refseq_ac": "NP_001189487",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein farnesyltransferase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.58",
                    "type": "synonym"
                },
                {
                    "name": "CAAX farnesyltransferase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "CHURC1-FNTB protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "FTase-beta",
                    "type": "synonym"
                },
                {
                    "name": "Ras proteins prenyltransferase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FNTB",
                    "type": "recommended"
                },
                {
                    "name": "CHURC1-FNTB",
                    "type": "synonym"
                },
                {
                    "name": "FTase-beta",
                    "type": "synonym"
                }
            ],
            "record_id": "P49356-1",
            "evidence": [
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15833-1",
            "uniprot_ac": "Q15833",
            "uniprot_id": "STXB2_HUMAN",
            "refseq_ac": "NP_001120868",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18B",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 2 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STXBP2",
                    "type": "recommended"
                },
                {
                    "name": "Hunc18b",
                    "type": "synonym"
                },
                {
                    "name": "MUNC18-2",
                    "type": "synonym"
                },
                {
                    "name": "STXBP2",
                    "type": "synonym"
                },
                {
                    "name": "UNC18-2",
                    "type": "synonym"
                },
                {
                    "name": "UNC18B",
                    "type": "synonym"
                },
                {
                    "name": "pp10122",
                    "type": "synonym"
                },
                {
                    "name": "unc-18B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15833-1",
            "evidence": [
                {
                    "id": "0080436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080436"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080436"
}