{
    "disease_id": "DOID:0060934",
    "recommended_name": {
        "id": "DOID:0060934",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060934",
        "name": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
        "description": "An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060934",
            "name": "NEDMEBA",
            "description": ""
        },
        {
            "id": "MONDO:0060640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060640",
            "name": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0060640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060640",
            "name": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0060640",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060640",
            "name": "NEDMEBA",
            "description": ""
        },
        {
            "id": "MIM:617862",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617862",
            "name": "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
            "description": "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060934"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060934",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060934",
            "categories": []
        },
        {
            "id": "MONDO:0060640",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060640",
            "categories": []
        },
        {
            "id": "MIM:617862",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617862",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QMV3-1",
            "uniprot_ac": "F1QMV3",
            "uniprot_id": "TPC6B_DANRE",
            "refseq_ac": "NP_001006029",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 6b",
                    "type": "recommended"
                },
                {
                    "name": "TRAPP complex subunit 6B",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 6b",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 6b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trappc6b",
                    "type": "recommended"
                },
                {
                    "name": "trappc6b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103464",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QMV3-1",
            "evidence": [
                {
                    "id": "0060934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D289-1",
            "uniprot_ac": "Q9D289",
            "uniprot_id": "TPC6B_MOUSE",
            "refseq_ac": "NP_001293146",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 6B",
                    "type": "recommended"
                },
                {
                    "name": "TRAPP complex subunit 6B",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 6B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 6B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc6b",
                    "type": "recommended"
                },
                {
                    "name": "5830498C14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Trappc6b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D289-1",
            "evidence": [
                {
                    "id": "0060934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q78XR0-1",
            "uniprot_ac": "Q78XR0",
            "uniprot_id": "TPC6A_MOUSE",
            "refseq_ac": "NP_001318110",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 6A",
                    "type": "recommended"
                },
                {
                    "name": "TRAPP complex subunit 6A",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 6A isoform b",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 6A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc6a",
                    "type": "recommended"
                },
                {
                    "name": "1810073E21Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930519D19Rik",
                    "type": "synonym"
                },
                {
                    "name": "TRS33",
                    "type": "synonym"
                },
                {
                    "name": "Trappc6a",
                    "type": "synonym"
                },
                {
                    "name": "mhyp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q78XR0-1",
            "evidence": [
                {
                    "id": "0060934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86SZ2-1",
            "uniprot_ac": "Q86SZ2",
            "uniprot_id": "TPC6B_HUMAN",
            "refseq_ac": "NP_001073005",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 6B",
                    "type": "recommended"
                },
                {
                    "name": "TRAPP complex subunit 6B",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 6B",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 6B isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAPPC6B",
                    "type": "recommended"
                },
                {
                    "name": "NEDMEBA",
                    "type": "synonym"
                },
                {
                    "name": "TPC6",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC6B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86SZ2-1",
            "evidence": [
                {
                    "id": "0060640",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0060640"
                },
                {
                    "id": "617862",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617862"
                },
                {
                    "id": "0060934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99394-1",
            "uniprot_ac": "Q99394",
            "uniprot_id": "TRS33_YEAST",
            "refseq_ac": "NP_014758",
            "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": "Trafficking protein particle complex subunit 33",
                    "type": "recommended"
                },
                {
                    "name": "TRAPP subunit 33",
                    "type": "synonym"
                },
                {
                    "name": "Transport protein particle 33 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Trs33p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRS33",
                    "type": "recommended"
                },
                {
                    "name": "O3251",
                    "type": "synonym"
                },
                {
                    "name": "TRS33",
                    "type": "synonym"
                },
                {
                    "name": "YOR3251C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99394-1",
            "evidence": [
                {
                    "id": "0060934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZES2-1",
            "uniprot_ac": "D3ZES2",
            "uniprot_id": "D3ZES2_RAT",
            "refseq_ac": "NP_001100203",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 6B",
                    "type": "recommended"
                },
                {
                    "name": "trafficking protein particle complex 6B",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 6B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc6b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309325",
                    "type": "synonym"
                },
                {
                    "name": "Trappc6b",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZES2-1",
            "evidence": [
                {
                    "id": "0060934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LBL2-1",
            "uniprot_ac": "A0ABK0LBL2",
            "uniprot_id": "A0ABK0LBL2_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": "Trafficking protein particle complex subunit 6A",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc6a",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LBL2-1",
            "evidence": [
                {
                    "id": "0060934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF82-1",
            "uniprot_ac": "Q9VF82",
            "uniprot_id": "Q9VF82_DROME",
            "refseq_ac": "NP_650450",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 6B",
                    "type": "recommended"
                },
                {
                    "name": "CG6196-PA",
                    "type": "synonym"
                },
                {
                    "name": "TRAPP subunit 33 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "TRAPP subunit 33",
                    "type": "synonym"
                },
                {
                    "name": "Trs33-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trs33",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH37427",
                    "type": "synonym"
                },
                {
                    "name": "CG6196",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6196",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6196",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC6",
                    "type": "synonym"
                },
                {
                    "name": "Trs33p",
                    "type": "synonym"
                },
                {
                    "name": "Trs33",
                    "type": "synonym"
                },
                {
                    "name": "dTrs33",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF82-1",
            "evidence": [
                {
                    "id": "0060934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75865-1",
            "uniprot_ac": "O75865",
            "uniprot_id": "TPC6A_HUMAN",
            "refseq_ac": "NP_001257820",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 6A",
                    "type": "recommended"
                },
                {
                    "name": "TRAPP complex subunit 6A",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 6A",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 6A isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAPPC6A",
                    "type": "recommended"
                },
                {
                    "name": "HSPC289",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC6A",
                    "type": "synonym"
                },
                {
                    "name": "TRS33",
                    "type": "synonym"
                }
            ],
            "record_id": "O75865-1",
            "evidence": [
                {
                    "id": "0060934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060934"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060934"
}