{
    "disease_id": "DOID:0051034",
    "recommended_name": {
        "id": "DOID:0051034",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051034",
        "name": "primary autosomal recessive microcephaly 23",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0054806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054806",
            "name": "microcephaly 23, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0054806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054806",
            "name": "MCPH23",
            "description": ""
        },
        {
            "id": "MONDO:0054806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054806",
            "name": "microcephaly 23, PRIMARY, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:617985",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617985",
            "name": "Microcephaly 23, primary, autosomal recessive",
            "description": "Microcephaly 23, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051034"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051034",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051034",
            "categories": []
        },
        {
            "id": "MONDO:0054806",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054806",
            "categories": []
        },
        {
            "id": "MIM:617985",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617985",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9VIP9-1",
            "uniprot_ac": "Q9VIP9",
            "uniprot_id": "Q9VIP9_DROME",
            "refseq_ac": "NP_001286094",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG10726-PC; barr-PC; barren",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "barren, isoform C",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "barr",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "38B.3; Barr; Barren; Cap-H; CAP-H; CapH; CG10726; CG14684; dCap-H; Dmel\\CG10726",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "38B.3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Barren",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Barr",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CAP-H",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG10726",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG14684",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cap-H",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CapH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10726",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10726",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "barr",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dCap-H",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051034",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C156-1",
            "uniprot_ac": "Q8C156",
            "uniprot_id": "CND2_MOUSE",
            "refseq_ac": "NP_659067",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Barren homolog protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome-associated protein H",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Non-SMC condensin I complex subunit H",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "XCAP-H homolog; barren homolog protein 1; chromosome-associated protein H",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "XCAP-H homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "condensin complex subunit 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "mCAP-H",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncaph",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "A730011O11Rik; Brrn1; CAP-H; HCAP-H; mCAP-H",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Brrn1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Brrn",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Caph",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ncaph",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051034",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38170-1",
            "uniprot_ac": "P38170",
            "uniprot_id": "CND2_YEAST",
            "refseq_ac": "NP_009455",
            "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": "Condensin complex subunit 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Barren homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CAPH homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "condensin subunit BRN1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRN1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BRN1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "YBL0830",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051034",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15003-1",
            "uniprot_ac": "Q15003",
            "uniprot_id": "CND2_HUMAN",
            "refseq_ac": "NP_001268639",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Barren homolog protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome-associated protein H",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Non-SMC condensin I complex subunit H",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "XCAP-H homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "condensin complex subunit 2 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "condensin complex subunit 2; chromosome-associated protein H; barren homolog 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hCAP-H",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCAPH",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "BRRN1; CAP-H; CAPH; MCPH23; NCAPH1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BRRN1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "BRRN",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CAPH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0074",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NCAPH",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051034",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051034"
                },
                {
                    "id": "617985",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42695-1",
            "uniprot_ac": "P42695",
            "uniprot_id": "CNDD3_HUMAN",
            "refseq_ac": "NP_056076",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin-2 complex subunit D3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Non-SMC condensin II complex subunit D3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "condensin-2 complex subunit D3 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "condensin-2 complex subunit D3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hCAP-D3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCAPD3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CAP-D3; CAPD3; hCAP-D3; hcp-6; hHCP-6; MCPH22",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CAPD3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0056",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NCAPD3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hCAP-D3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hCG_37608",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "617985",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1L231-1",
            "uniprot_ac": "A1L231",
            "uniprot_id": "A1L231_DANRE",
            "refseq_ac": "NP_001073665",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "condensin complex subunit 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ncaph",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ncaph",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-86b9.4; zgc:158618",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-86b9.4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158618",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051034",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051034"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A8M7-1",
            "uniprot_ac": "D4A8M7",
            "uniprot_id": "D4A8M7_RAT",
            "refseq_ac": "NP_001388979",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin complex subunit 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "condensin complex subunit 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncaph",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ncaph",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051034",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051034"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051034"
}