{
    "disease_id": "DOID:0051033",
    "recommended_name": {
        "id": "DOID:0051033",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051033",
        "name": "primary autosomal recessive microcephaly 22",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0054805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054805",
            "name": "microcephaly 22, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0054805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054805",
            "name": "MCPH22",
            "description": ""
        },
        {
            "id": "MIM:617984",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617984",
            "name": "Microcephaly 22, primary, autosomal recessive",
            "description": "Microcephaly 22, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051033"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051033",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051033",
            "categories": []
        },
        {
            "id": "MONDO:0054805",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054805",
            "categories": []
        },
        {
            "id": "MIM:617984",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617984",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6ZQK0-1",
            "uniprot_ac": "Q6ZQK0",
            "uniprot_id": "CNDD3_MOUSE",
            "refseq_ac": "NP_835214",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin-2 complex subunit D3",
                    "type": "recommended"
                },
                {
                    "name": "Jacobsen syndrome region 2",
                    "type": "synonym"
                },
                {
                    "name": "Non-SMC condensin II complex subunit D3",
                    "type": "synonym"
                },
                {
                    "name": "condensin-2 complex subunit D3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "condensin-2 complex subunit D3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncapd3",
                    "type": "recommended"
                },
                {
                    "name": "2810487N22Rik",
                    "type": "synonym"
                },
                {
                    "name": "4632407J06Rik",
                    "type": "synonym"
                },
                {
                    "name": "B130055D15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0056",
                    "type": "synonym"
                },
                {
                    "name": "Ncapd3",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0056",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZQK0-1",
            "evidence": [
                {
                    "id": "0051033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051033"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "Non-SMC condensin II complex subunit D3",
                    "type": "synonym"
                },
                {
                    "name": "condensin-2 complex subunit D3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "condensin-2 complex subunit D3",
                    "type": "synonym"
                },
                {
                    "name": "hCAP-D3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCAPD3",
                    "type": "recommended"
                },
                {
                    "name": "CAP-D3",
                    "type": "synonym"
                },
                {
                    "name": "CAPD3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0056",
                    "type": "synonym"
                },
                {
                    "name": "MCPH22",
                    "type": "synonym"
                },
                {
                    "name": "NCAPD3",
                    "type": "synonym"
                },
                {
                    "name": "hCAP-D3",
                    "type": "synonym"
                },
                {
                    "name": "hHCP-6",
                    "type": "synonym"
                },
                {
                    "name": "hcp-6",
                    "type": "synonym"
                }
            ],
            "record_id": "P42695-1",
            "evidence": [
                {
                    "id": "617984",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617984"
                },
                {
                    "id": "0051033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A140UHX3-1",
            "uniprot_ac": "A0A140UHX3",
            "uniprot_id": "A0A140UHX3_RAT",
            "refseq_ac": "XP_006242797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin-2 complex subunit D3",
                    "type": "recommended"
                },
                {
                    "name": "condensin-2 complex subunit D3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncapd3",
                    "type": "recommended"
                },
                {
                    "name": "Ncapd3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A140UHX3-1",
            "evidence": [
                {
                    "id": "0051033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMQ4-1",
            "uniprot_ac": "Q9VMQ4",
            "uniprot_id": "Q9VMQ4_DROME",
            "refseq_ac": "NP_001162887",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Condensin-2 complex subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG31989-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cap-D3-PB",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome-associated protein D3",
                    "type": "synonym"
                },
                {
                    "name": "chromosome associated protein D3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "dCAP-D3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cap-D3",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE74832",
                    "type": "synonym"
                },
                {
                    "name": "CAP-D2",
                    "type": "synonym"
                },
                {
                    "name": "CAP-D3",
                    "type": "synonym"
                },
                {
                    "name": "CG14019",
                    "type": "synonym"
                },
                {
                    "name": "CG31989",
                    "type": "synonym"
                },
                {
                    "name": "CG6922",
                    "type": "synonym"
                },
                {
                    "name": "Cap-D3",
                    "type": "synonym"
                },
                {
                    "name": "CapD3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31989",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31989",
                    "type": "synonym"
                },
                {
                    "name": "cap-D3",
                    "type": "synonym"
                },
                {
                    "name": "dCAP-D3",
                    "type": "synonym"
                },
                {
                    "name": "dCap-D3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMQ4-1",
            "evidence": [
                {
                    "id": "0051033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051033"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051033"
}