{
    "disease_id": "DOID:0070291",
    "recommended_name": {
        "id": "DOID:0070291",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070291",
        "name": "primary autosomal recessive microcephaly 4",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15."
    },
    "synonyms": [
        {
            "id": "DOID:0070291",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070291",
            "name": "MCPH4",
            "description": ""
        },
        {
            "id": "MONDO:0011437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011437",
            "name": "microcephaly 4, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011437",
            "name": "microcephaly 4, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011437",
            "name": "MCPH4",
            "description": ""
        },
        {
            "id": "MIM:604321",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604321",
            "name": "Microcephaly 4, primary, autosomal recessive",
            "description": "Microcephaly 4, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070291"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070291",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070291",
            "categories": []
        },
        {
            "id": "MONDO:0011437",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011437",
            "categories": []
        },
        {
            "id": "MIM:604321",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604321",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AY08-1",
            "uniprot_ac": "A0A8M3AY08",
            "uniprot_id": "A0A8M3AY08_DANRE",
            "refseq_ac": "XP_001921879",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer kinetochore KNL1 complex subunit KNL1",
                    "type": "synonym"
                },
                {
                    "name": "outer kinetochore KNL1 complex subunit KNL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "knl1",
                    "type": "recommended"
                },
                {
                    "name": "knl1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AY08-1",
            "evidence": [
                {
                    "id": "0070291",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070291"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66JQ7-1",
            "uniprot_ac": "Q66JQ7",
            "uniprot_id": "KNL1_MOUSE",
            "refseq_ac": "NP_083893",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer kinetochore KNL1 complex subunit KNL1",
                    "type": "recommended"
                },
                {
                    "name": "Cancer susceptibility candidate gene 5 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Kinetochore scaffold 1",
                    "type": "synonym"
                },
                {
                    "name": "Kinetochore-null protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein CASC5",
                    "type": "synonym"
                },
                {
                    "name": "cancer susceptibility candidate 5",
                    "type": "synonym"
                },
                {
                    "name": "kinetochore-null protein 1",
                    "type": "synonym"
                },
                {
                    "name": "outer kinetochore KNL1 complex subunit KNL1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "outer kinetochore KNL1 complex subunit KNL1",
                    "type": "synonym"
                },
                {
                    "name": "protein CASC5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Knl1",
                    "type": "recommended"
                },
                {
                    "name": "2310043D08Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730505K17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Casc5",
                    "type": "synonym"
                },
                {
                    "name": "Knl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66JQ7-1",
            "evidence": [
                {
                    "id": "0070291",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070291"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NG31-1",
            "uniprot_ac": "Q8NG31",
            "uniprot_id": "KNL1_HUMAN",
            "refseq_ac": "NP_653091",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer kinetochore KNL1 complex subunit KNL1",
                    "type": "recommended"
                },
                {
                    "name": "AF15q14",
                    "type": "synonym"
                },
                {
                    "name": "ALL1-fused gene from chromosome 15q14 protein",
                    "type": "synonym"
                },
                {
                    "name": "Blinkin",
                    "type": "synonym"
                },
                {
                    "name": "Bub-linking kinetochore protein",
                    "type": "synonym"
                },
                {
                    "name": "CT29",
                    "type": "synonym"
                },
                {
                    "name": "Cancer susceptibility candidate gene 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "Cancer/testis antigen 29",
                    "type": "synonym"
                },
                {
                    "name": "Kinetochore scaffold 1",
                    "type": "synonym"
                },
                {
                    "name": "Kinetochore-null protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein CASC5",
                    "type": "synonym"
                },
                {
                    "name": "Protein D40/AF15q14",
                    "type": "synonym"
                },
                {
                    "name": "blinkin, bub-linking kinetochore protein",
                    "type": "synonym"
                },
                {
                    "name": "cancer susceptibility candidate 5",
                    "type": "synonym"
                },
                {
                    "name": "cancer susceptibility candidate gene 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 29",
                    "type": "synonym"
                },
                {
                    "name": "kinetochore null 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "kinetochore-null protein 1",
                    "type": "synonym"
                },
                {
                    "name": "microcephaly, primary autosomal recessive 4",
                    "type": "synonym"
                },
                {
                    "name": "outer kinetochore KNL1 complex subunit KNL1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "outer kinetochore KNL1 complex subunit KNL1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KNL1",
                    "type": "recommended"
                },
                {
                    "name": "AF15Q14",
                    "type": "synonym"
                },
                {
                    "name": "CASC5",
                    "type": "synonym"
                },
                {
                    "name": "CT29",
                    "type": "synonym"
                },
                {
                    "name": "D40",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1570",
                    "type": "synonym"
                },
                {
                    "name": "KNL1",
                    "type": "synonym"
                },
                {
                    "name": "MCPH4",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R55",
                    "type": "synonym"
                },
                {
                    "name": "Spc7",
                    "type": "synonym"
                },
                {
                    "name": "hKNL-1",
                    "type": "synonym"
                },
                {
                    "name": "hSpc105",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NG31-1",
            "evidence": [
                {
                    "id": "604321",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604321"
                },
                {
                    "id": "0070291",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070291"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z896-1",
            "uniprot_ac": "D3Z896",
            "uniprot_id": "D3Z896_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": "Kinetochore scaffold 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Knl1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3Z896-1",
            "evidence": [
                {
                    "id": "0070291",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070291"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070291"
}