{
    "disease_id": "DOID:0070281",
    "recommended_name": {
        "id": "DOID:0070281",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070281",
        "name": "primary autosomal recessive microcephaly 19",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070281",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070281",
            "name": "MCPH19",
            "description": ""
        },
        {
            "id": "MONDO:0054716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054716",
            "name": "microcephaly 19, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0054716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054716",
            "name": "MCPH19",
            "description": ""
        },
        {
            "id": "MIM:617800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617800",
            "name": "Microcephaly 19, primary, autosomal recessive",
            "description": "Microcephaly 19, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070281"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070281",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070281",
            "categories": []
        },
        {
            "id": "MONDO:0054716",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054716",
            "categories": []
        },
        {
            "id": "MIM:617800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O55029-1",
            "uniprot_ac": "O55029",
            "uniprot_id": "COPB2_MOUSE",
            "refseq_ac": "NP_056642",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit beta'",
                    "type": "recommended"
                },
                {
                    "name": "Beta'-COP",
                    "type": "synonym"
                },
                {
                    "name": "Beta'-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "beta'-COP",
                    "type": "synonym"
                },
                {
                    "name": "beta'-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex, subunit beta 2 (beta prime)",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit beta'",
                    "type": "synonym"
                },
                {
                    "name": "p102",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Copb2",
                    "type": "recommended"
                },
                {
                    "name": "Copb2",
                    "type": "synonym"
                }
            ],
            "record_id": "O55029-1",
            "evidence": [
                {
                    "id": "0070281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35606-1",
            "uniprot_ac": "P35606",
            "uniprot_id": "COPB2_HUMAN",
            "refseq_ac": "NP_004757",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit beta'",
                    "type": "recommended"
                },
                {
                    "name": "Beta'-COP",
                    "type": "synonym"
                },
                {
                    "name": "Beta'-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "COPI coat complex subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "beta'-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "betaprime-COP",
                    "type": "synonym"
                },
                {
                    "name": "coatomer binding complex, beta prime subunit",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex subunit beta prime",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex, subunit beta 2 (beta prime)",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit beta' isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit beta'",
                    "type": "synonym"
                },
                {
                    "name": "p102",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COPB2",
                    "type": "recommended"
                },
                {
                    "name": "COPB2",
                    "type": "synonym"
                },
                {
                    "name": "MCPH19",
                    "type": "synonym"
                },
                {
                    "name": "OPDD",
                    "type": "synonym"
                },
                {
                    "name": "beta'-COP",
                    "type": "synonym"
                }
            ],
            "record_id": "P35606-1",
            "evidence": [
                {
                    "id": "617800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617800"
                },
                {
                    "id": "0070281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41811-1",
            "uniprot_ac": "P41811",
            "uniprot_id": "COPB2_YEAST",
            "refseq_ac": "NP_011378",
            "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": "Coatomer subunit beta'",
                    "type": "recommended"
                },
                {
                    "name": "Beta'-COP",
                    "type": "synonym"
                },
                {
                    "name": "Beta'-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit beta'",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC27",
                    "type": "recommended"
                },
                {
                    "name": "G2827",
                    "type": "synonym"
                },
                {
                    "name": "SEC27",
                    "type": "synonym"
                }
            ],
            "record_id": "P41811-1",
            "evidence": [
                {
                    "id": "0070281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35142-1",
            "uniprot_ac": "O35142",
            "uniprot_id": "COPB2_RAT",
            "refseq_ac": "NP_068533",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit beta'",
                    "type": "recommended"
                },
                {
                    "name": "Beta'-COP",
                    "type": "synonym"
                },
                {
                    "name": "Beta'-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "COPI coat complex subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "beta prime COP",
                    "type": "synonym"
                },
                {
                    "name": "beta'-COP",
                    "type": "synonym"
                },
                {
                    "name": "beta'-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex, subunit beta 2 (beta prime)",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit beta'",
                    "type": "synonym"
                },
                {
                    "name": "p102",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Copb2",
                    "type": "recommended"
                },
                {
                    "name": "AABR07071244.1",
                    "type": "synonym"
                },
                {
                    "name": "Copb2",
                    "type": "synonym"
                },
                {
                    "name": "Rack2",
                    "type": "synonym"
                },
                {
                    "name": "p102",
                    "type": "synonym"
                }
            ],
            "record_id": "O35142-1",
            "evidence": [
                {
                    "id": "0070281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01026-1",
            "uniprot_ac": "P01026",
            "uniprot_id": "CO3_RAT",
            "refseq_ac": "NP_058690",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C3",
                    "type": "recommended"
                },
                {
                    "name": "C3adesArg",
                    "type": "synonym"
                },
                {
                    "name": "Complement C3b-alpha' chain",
                    "type": "synonym"
                },
                {
                    "name": "ENCF-1",
                    "type": "synonym"
                },
                {
                    "name": "ENCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil chemotactic factor-1",
                    "type": "synonym"
                },
                {
                    "name": "Neutrophil chemotactic factor-2",
                    "type": "synonym"
                },
                {
                    "name": "complement C3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C3",
                    "type": "recommended"
                },
                {
                    "name": "C3",
                    "type": "synonym"
                }
            ],
            "record_id": "P01026-1",
            "evidence": [
                {
                    "id": "0070281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O62621-1",
            "uniprot_ac": "O62621",
            "uniprot_id": "COPB2_DROME",
            "refseq_ac": "NP_524836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit beta'",
                    "type": "recommended"
                },
                {
                    "name": "Beta'-COP",
                    "type": "synonym"
                },
                {
                    "name": "Beta'-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "CG6699-PA",
                    "type": "synonym"
                },
                {
                    "name": "COPI beta' subunit",
                    "type": "synonym"
                },
                {
                    "name": "beta'-coatomer protein",
                    "type": "synonym"
                },
                {
                    "name": "beta'COP-PA",
                    "type": "synonym"
                },
                {
                    "name": "coat protein (coatomer) beta'",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "beta'COP",
                    "type": "recommended"
                },
                {
                    "name": "CG6699",
                    "type": "synonym"
                },
                {
                    "name": "COPIbeta'",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6699",
                    "type": "synonym"
                },
                {
                    "name": "beta'-COP",
                    "type": "synonym"
                },
                {
                    "name": "beta'COP",
                    "type": "synonym"
                },
                {
                    "name": "beta'Cop",
                    "type": "synonym"
                },
                {
                    "name": "dbeta'COP",
                    "type": "synonym"
                }
            ],
            "record_id": "O62621-1",
            "evidence": [
                {
                    "id": "0070281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070281"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070281"
}