{
    "disease_id": "DOID:0070539",
    "recommended_name": {
        "id": "DOID:0070539",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070539",
        "name": "Halperin-Birk syndrome",
        "description": "A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22."
    },
    "synonyms": [
        {
            "id": "DOID:0070539",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070539",
            "name": "HLBKS",
            "description": ""
        },
        {
            "id": "DOID:0070539",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070539",
            "name": "NEDSOSB",
            "description": ""
        },
        {
            "id": "DOID:0070539",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070539",
            "name": "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES",
            "description": ""
        },
        {
            "id": "MONDO:0032849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032849",
            "name": "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0032849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032849",
            "name": "Halperin-Birk syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032849",
            "name": "NEDSOSB",
            "description": ""
        },
        {
            "id": "MIM:618651",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618651",
            "name": "Halperin-Birk syndrome",
            "description": "Halperin-Birk syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070539"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070539",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070539",
            "categories": []
        },
        {
            "id": "MONDO:0032849",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032849",
            "categories": []
        },
        {
            "id": "MIM:618651",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618651",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SYD5-1",
            "uniprot_ac": "Q7SYD5",
            "uniprot_id": "SC31A_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec31A",
                    "type": "recommended"
                },
                {
                    "name": "SEC31-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-related protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sec31a",
                    "type": "recommended"
                },
                {
                    "name": "cb354",
                    "type": "synonym"
                },
                {
                    "name": "sec31l1",
                    "type": "synonym"
                },
                {
                    "name": "sec31p",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63547",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SYD5-1",
            "evidence": [
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32U4U0-1",
            "uniprot_ac": "A0AB32U4U0",
            "uniprot_id": "A0AB32U4U0_DANRE",
            "refseq_ac": "XP_068080942",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec31A",
                    "type": "recommended"
                },
                {
                    "name": "SEC31-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-related protein A",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec31A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sec31b",
                    "type": "recommended"
                },
                {
                    "name": "sec31b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U4U0-1",
            "evidence": [
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UPL0-1",
            "uniprot_ac": "Q3UPL0",
            "uniprot_id": "SC31A_MOUSE",
            "refseq_ac": "NP_081245",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec31A",
                    "type": "recommended"
                },
                {
                    "name": "SEC31-like 1",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-related protein A",
                    "type": "synonym"
                },
                {
                    "name": "Sec31 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec31A isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec31A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec31a",
                    "type": "recommended"
                },
                {
                    "name": "1810024J13Rik",
                    "type": "synonym"
                },
                {
                    "name": "ABP125",
                    "type": "synonym"
                },
                {
                    "name": "ABP130",
                    "type": "synonym"
                },
                {
                    "name": "HSPC275",
                    "type": "synonym"
                },
                {
                    "name": "Sec31a",
                    "type": "synonym"
                },
                {
                    "name": "Sec31l1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UPL0-1",
            "evidence": [
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TZ89-1",
            "uniprot_ac": "Q3TZ89",
            "uniprot_id": "SC31B_MOUSE",
            "refseq_ac": "NP_001028515",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec31B",
                    "type": "recommended"
                },
                {
                    "name": "SEC31-like 2",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-related protein B",
                    "type": "synonym"
                },
                {
                    "name": "Sec31 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec31B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec31b",
                    "type": "recommended"
                },
                {
                    "name": "Gm341",
                    "type": "synonym"
                },
                {
                    "name": "Sec31b",
                    "type": "synonym"
                },
                {
                    "name": "Sec31l2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TZ89-1",
            "evidence": [
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94979-1",
            "uniprot_ac": "O94979",
            "uniprot_id": "SC31A_HUMAN",
            "refseq_ac": "NP_001070674",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec31A",
                    "type": "recommended"
                },
                {
                    "name": "ABP125",
                    "type": "synonym"
                },
                {
                    "name": "ABP130",
                    "type": "synonym"
                },
                {
                    "name": "SEC31 homolog A, COPII coat complex component",
                    "type": "synonym"
                },
                {
                    "name": "SEC31 homolog A, COPII coating complex component",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-related protein A",
                    "type": "synonym"
                },
                {
                    "name": "Web1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec31A isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec31A",
                    "type": "synonym"
                },
                {
                    "name": "web1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "yeast Sec31p homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC31A",
                    "type": "recommended"
                },
                {
                    "name": "ABP125",
                    "type": "synonym"
                },
                {
                    "name": "ABP130",
                    "type": "synonym"
                },
                {
                    "name": "HPBKS",
                    "type": "synonym"
                },
                {
                    "name": "HSPC275",
                    "type": "synonym"
                },
                {
                    "name": "HSPC334",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0905",
                    "type": "synonym"
                },
                {
                    "name": "NEDSOSB",
                    "type": "synonym"
                },
                {
                    "name": "SEC31A",
                    "type": "synonym"
                },
                {
                    "name": "SEC31L1",
                    "type": "synonym"
                }
            ],
            "record_id": "O94979-1",
            "evidence": [
                {
                    "id": "618651",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618651"
                },
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38968-1",
            "uniprot_ac": "P38968",
            "uniprot_id": "SEC31_YEAST",
            "refseq_ac": "NP_010086",
            "glycoprotein": "yes",
            "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 SEC31",
                    "type": "recommended"
                },
                {
                    "name": "Protein WEB1",
                    "type": "synonym"
                },
                {
                    "name": "Sec31p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC31",
                    "type": "recommended"
                },
                {
                    "name": "D1229",
                    "type": "synonym"
                },
                {
                    "name": "SEC31",
                    "type": "synonym"
                },
                {
                    "name": "WEB1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38968-1",
            "evidence": [
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2Q1-1",
            "uniprot_ac": "Q9Z2Q1",
            "uniprot_id": "SC31A_RAT",
            "refseq_ac": "NP_148981",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec31A",
                    "type": "recommended"
                },
                {
                    "name": "SEC31 homolog A, COPII coat complex component",
                    "type": "synonym"
                },
                {
                    "name": "SEC31 homolog A, COPII coating complex component",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-like 1",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-related protein A",
                    "type": "synonym"
                },
                {
                    "name": "Vesicle-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec31A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec31A",
                    "type": "synonym"
                },
                {
                    "name": "vesicle associated protein",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec31a",
                    "type": "recommended"
                },
                {
                    "name": "Sec31a",
                    "type": "synonym"
                },
                {
                    "name": "Sec31l1",
                    "type": "synonym"
                },
                {
                    "name": "VAP1",
                    "type": "synonym"
                },
                {
                    "name": "Vap1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2Q1-1",
            "evidence": [
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L020-1",
            "uniprot_ac": "A0ABK0L020",
            "uniprot_id": "A0ABK0L020_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec31B",
                    "type": "recommended"
                },
                {
                    "name": "SEC31-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-related protein B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec31b",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L020-1",
            "evidence": [
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LEZ1-1",
            "uniprot_ac": "A0A0B4LEZ1",
            "uniprot_id": "A0A0B4LEZ1_DROME",
            "refseq_ac": "NP_001286215",
            "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 transport protein Sec31A",
                    "type": "recommended"
                },
                {
                    "name": "CG8266-PD",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-related protein A",
                    "type": "synonym"
                },
                {
                    "name": "Sec31 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Sec31-PD",
                    "type": "synonym"
                },
                {
                    "name": "secretory 31, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec31",
                    "type": "recommended"
                },
                {
                    "name": "CG8266",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8266",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8266",
                    "type": "synonym"
                },
                {
                    "name": "SEC31A",
                    "type": "synonym"
                },
                {
                    "name": "SEC31",
                    "type": "synonym"
                },
                {
                    "name": "Sec31",
                    "type": "synonym"
                },
                {
                    "name": "dSec31p",
                    "type": "synonym"
                },
                {
                    "name": "sec31",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LEZ1-1",
            "evidence": [
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQW1-1",
            "uniprot_ac": "Q9NQW1",
            "uniprot_id": "SC31B_HUMAN",
            "refseq_ac": "NP_056305",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec31B",
                    "type": "recommended"
                },
                {
                    "name": "SEC31 homolog B, COPII coat complex component",
                    "type": "synonym"
                },
                {
                    "name": "SEC31 homolog B, COPII coating complex component",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-like 2",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SEC31-related protein B",
                    "type": "synonym"
                },
                {
                    "name": "SEC31B-1",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec31B",
                    "type": "synonym"
                },
                {
                    "name": "secretory pathway component Sec31B-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC31B",
                    "type": "recommended"
                },
                {
                    "name": "SEC31B-1",
                    "type": "synonym"
                },
                {
                    "name": "SEC31B",
                    "type": "synonym"
                },
                {
                    "name": "SEC31L2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQW1-1",
            "evidence": [
                {
                    "id": "0070539",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070539"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070539"
}