{
    "disease_id": "DOID:0051041",
    "recommended_name": {
        "id": "DOID:0051041",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051041",
        "name": "primary autosomal recessive microcephaly 30",
        "description": "A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0859342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859342",
            "name": "microcephaly 30, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620183",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620183",
            "name": "Microcephaly 30, primary, autosomal recessive",
            "description": "Microcephaly 30, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051041"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051041",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051041",
            "categories": []
        },
        {
            "id": "MONDO:0859342",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859342",
            "categories": []
        },
        {
            "id": "MIM:620183",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620183",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QNS6-1",
            "uniprot_ac": "F1QNS6",
            "uniprot_id": "F1QNS6_DANRE",
            "refseq_ac": "XP_002665685",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint serine/threonine-protein kinase BUB1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bub1",
                    "type": "recommended"
                },
                {
                    "name": "bub1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QNS6-1",
            "evidence": [
                {
                    "id": "0051041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08901-1",
            "uniprot_ac": "O08901",
            "uniprot_id": "BUB1_MOUSE",
            "refseq_ac": "NP_001106650",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "BUB1A",
                    "type": "synonym"
                },
                {
                    "name": "budding uninhibited by benzimidazoles 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mBUB1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint serine/threonine-protein kinase BUB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bub1",
                    "type": "recommended"
                },
                {
                    "name": "Bub1a",
                    "type": "synonym"
                },
                {
                    "name": "Bub1",
                    "type": "synonym"
                },
                {
                    "name": "D2Xrf87",
                    "type": "synonym"
                }
            ],
            "record_id": "O08901-1",
            "evidence": [
                {
                    "id": "0051041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43683-1",
            "uniprot_ac": "O43683",
            "uniprot_id": "BUB1_HUMAN",
            "refseq_ac": "NP_001265546",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "BUB1 budding uninhibited by benzimidazoles 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "BUB1A",
                    "type": "synonym"
                },
                {
                    "name": "hBUB1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle checkpoint kinase",
                    "type": "synonym"
                },
                {
                    "name": "putative serine/threonine-protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BUB1",
                    "type": "recommended"
                },
                {
                    "name": "BUB1A",
                    "type": "synonym"
                },
                {
                    "name": "BUB1L",
                    "type": "synonym"
                },
                {
                    "name": "BUB1",
                    "type": "synonym"
                },
                {
                    "name": "MCPH30",
                    "type": "synonym"
                },
                {
                    "name": "hBUB1",
                    "type": "synonym"
                }
            ],
            "record_id": "O43683-1",
            "evidence": [
                {
                    "id": "620183",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620183"
                },
                {
                    "id": "0051041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41695-1",
            "uniprot_ac": "P41695",
            "uniprot_id": "BUB1_YEAST",
            "refseq_ac": "NP_011704",
            "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": "Spindle assembly checkpoint serine/threonine-protein kinase BUB1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Checkpoint serine/threonine-protein kinase BUB1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase BUB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BUB1",
                    "type": "recommended"
                },
                {
                    "name": "BUB1",
                    "type": "synonym"
                },
                {
                    "name": "G7542",
                    "type": "synonym"
                }
            ],
            "record_id": "P41695-1",
            "evidence": [
                {
                    "id": "0051041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A5D3-1",
            "uniprot_ac": "D4A5D3",
            "uniprot_id": "D4A5D3_RAT",
            "refseq_ac": "NP_001099977",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "BUB1A",
                    "type": "synonym"
                },
                {
                    "name": "budding uninhibited by benzimidazoles 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint serine/threonine-protein kinase BUB1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bub1",
                    "type": "recommended"
                },
                {
                    "name": "Bub1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A5D3-1",
            "evidence": [
                {
                    "id": "0051041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMS5-1",
            "uniprot_ac": "Q9VMS5",
            "uniprot_id": "Q9VMS5_DROME",
            "refseq_ac": "NP_001285621",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bub1 homologue",
                    "type": "synonym"
                },
                {
                    "name": "Bub1 kinase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Bub1 kinase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Bub1 kinase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Bub1-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG14030-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bub1",
                    "type": "recommended"
                },
                {
                    "name": "BUB1-like",
                    "type": "synonym"
                },
                {
                    "name": "BUB1",
                    "type": "synonym"
                },
                {
                    "name": "Bub1",
                    "type": "synonym"
                },
                {
                    "name": "CG14030/Bub1",
                    "type": "synonym"
                },
                {
                    "name": "CG14030",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14030",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14030",
                    "type": "synonym"
                },
                {
                    "name": "bub1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMS5-1",
            "evidence": [
                {
                    "id": "0051041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z6I7-1",
            "uniprot_ac": "A1Z6I7",
            "uniprot_id": "A1Z6I7_DROME",
            "refseq_ac": "NP_477382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bub1-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "BubR1-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG7838-PA",
                    "type": "synonym"
                },
                {
                    "name": "bub related one",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BubR1",
                    "type": "recommended"
                },
                {
                    "name": "13",
                    "type": "synonym"
                },
                {
                    "name": "31/13",
                    "type": "synonym"
                },
                {
                    "name": "BUB1",
                    "type": "synonym"
                },
                {
                    "name": "BUBR1",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD23835",
                    "type": "synonym"
                },
                {
                    "name": "Bub1",
                    "type": "synonym"
                },
                {
                    "name": "BubR1",
                    "type": "synonym"
                },
                {
                    "name": "CG 7838",
                    "type": "synonym"
                },
                {
                    "name": "CG7838",
                    "type": "synonym"
                },
                {
                    "name": "DmBUB1",
                    "type": "synonym"
                },
                {
                    "name": "DmBubRI",
                    "type": "synonym"
                },
                {
                    "name": "Dmbub1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7838",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7838",
                    "type": "synonym"
                },
                {
                    "name": "bub1",
                    "type": "synonym"
                },
                {
                    "name": "bubR1",
                    "type": "synonym"
                },
                {
                    "name": "bubr1",
                    "type": "synonym"
                },
                {
                    "name": "dBUB1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k03113",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k06109",
                    "type": "synonym"
                },
                {
                    "name": "mcl(2)Z1525",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z6I7-1",
            "evidence": [
                {
                    "id": "0051041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051041"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051041"
}