{
    "disease_id": "DOID:0051031",
    "recommended_name": {
        "id": "DOID:0051031",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051031",
        "name": "primary autosomal recessive microcephaly 20",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0054761",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054761",
            "name": "microcephaly 20, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0054761",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054761",
            "name": "MCPH20",
            "description": ""
        },
        {
            "id": "MIM:617914",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617914",
            "name": "Microcephaly 20, primary, autosomal recessive",
            "description": "Microcephaly 20, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051031"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051031",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051031",
            "categories": []
        },
        {
            "id": "MONDO:0054761",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054761",
            "categories": []
        },
        {
            "id": "MIM:617914",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617914",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B614-1",
            "uniprot_ac": "A0ACD6B614",
            "uniprot_id": "A0ACD6B614_DANRE",
            "refseq_ac": "XP_005170522",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF14",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF14 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif14",
                    "type": "recommended"
                },
                {
                    "name": "kif14",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-39e8.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi16h07",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B614-1",
            "evidence": [
                {
                    "id": "0051031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "L0N7N1-1",
            "uniprot_ac": "L0N7N1",
            "uniprot_id": "KIF14_MOUSE",
            "refseq_ac": "NP_001274108",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF14",
                    "type": "recommended"
                },
                {
                    "name": "N-3 kinesin",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif14",
                    "type": "recommended"
                },
                {
                    "name": "D1Ertd367e",
                    "type": "synonym"
                },
                {
                    "name": "E130203M01",
                    "type": "synonym"
                },
                {
                    "name": "Kif14",
                    "type": "synonym"
                }
            ],
            "record_id": "L0N7N1-1",
            "evidence": [
                {
                    "id": "0051031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15058-1",
            "uniprot_ac": "Q15058",
            "uniprot_id": "KIF14_HUMAN",
            "refseq_ac": "NP_001292721",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF14",
                    "type": "recommended"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF14 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF14",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0042",
                    "type": "synonym"
                },
                {
                    "name": "KIF14",
                    "type": "synonym"
                },
                {
                    "name": "MCPH20",
                    "type": "synonym"
                },
                {
                    "name": "MKS12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15058-1",
            "evidence": [
                {
                    "id": "617914",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617914"
                },
                {
                    "id": "0051031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZE01-1",
            "uniprot_ac": "D3ZE01",
            "uniprot_id": "D3ZE01_RAT",
            "refseq_ac": "NP_001414162",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF14",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif14",
                    "type": "recommended"
                },
                {
                    "name": "Kif14",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZE01-1",
            "evidence": [
                {
                    "id": "0051031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIP4-1",
            "uniprot_ac": "Q9VIP4",
            "uniprot_id": "Q9VIP4_DROME",
            "refseq_ac": "NP_476817",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "CG10718-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at 38B",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin3C",
                    "type": "synonym"
                },
                {
                    "name": "Nebbish",
                    "type": "synonym"
                },
                {
                    "name": "mothra",
                    "type": "synonym"
                },
                {
                    "name": "neb-PA",
                    "type": "synonym"
                },
                {
                    "name": "nebbish",
                    "type": "synonym"
                },
                {
                    "name": "tiovivo",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "neb",
                    "type": "recommended"
                },
                {
                    "name": "38B.10",
                    "type": "synonym"
                },
                {
                    "name": "38B.12",
                    "type": "synonym"
                },
                {
                    "name": "CG10718",
                    "type": "synonym"
                },
                {
                    "name": "Dm0332",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp38B",
                    "type": "synonym"
                },
                {
                    "name": "DmNeb",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10718",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10718",
                    "type": "synonym"
                },
                {
                    "name": "KIF 14",
                    "type": "synonym"
                },
                {
                    "name": "KIF14",
                    "type": "synonym"
                },
                {
                    "name": "KLP 38B",
                    "type": "synonym"
                },
                {
                    "name": "KLP-38B",
                    "type": "synonym"
                },
                {
                    "name": "KLP38B",
                    "type": "synonym"
                },
                {
                    "name": "Klp38B",
                    "type": "synonym"
                },
                {
                    "name": "Klp38",
                    "type": "synonym"
                },
                {
                    "name": "Mot",
                    "type": "synonym"
                },
                {
                    "name": "Neb",
                    "type": "synonym"
                },
                {
                    "name": "klp38B",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03552",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k00802",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k07614",
                    "type": "synonym"
                },
                {
                    "name": "nebb",
                    "type": "synonym"
                },
                {
                    "name": "neb",
                    "type": "synonym"
                },
                {
                    "name": "sl(2)ry3",
                    "type": "synonym"
                },
                {
                    "name": "sl(2)ry",
                    "type": "synonym"
                },
                {
                    "name": "tio",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIP4-1",
            "evidence": [
                {
                    "id": "0051031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051031"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051031"
}