{
    "disease_id": "DOID:0070279",
    "recommended_name": {
        "id": "DOID:0070279",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070279",
        "name": "primary autosomal recessive microcephaly 14",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070279",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070279",
            "name": "MCPH14",
            "description": ""
        },
        {
            "id": "MONDO:0014623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014623",
            "name": "microcephaly 14, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene."
        },
        {
            "id": "MONDO:0014623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014623",
            "name": "SASS6 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0014623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014623",
            "name": "autosomal recessive primary microcephaly caused by mutation in SASS6",
            "description": ""
        },
        {
            "id": "MONDO:0014623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014623",
            "name": "microcephaly 14, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014623",
            "name": "MCPH14",
            "description": ""
        },
        {
            "id": "MIM:616402",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616402",
            "name": "Microcephaly 14, primary, autosomal recessive",
            "description": "Microcephaly 14, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070279"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070279",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070279",
            "categories": []
        },
        {
            "id": "MONDO:0014623",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014623",
            "categories": []
        },
        {
            "id": "MIM:616402",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616402",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZVT3-1",
            "uniprot_ac": "Q7ZVT3",
            "uniprot_id": "SAS6_DANRE",
            "refseq_ac": "NP_998603",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spindle assembly abnormal protein 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "cea",
                    "type": "synonym"
                },
                {
                    "name": "cellular atoll",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal protein 6 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sass6",
                    "type": "recommended"
                },
                {
                    "name": "sas6",
                    "type": "synonym"
                },
                {
                    "name": "sass6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb98c12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55668",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZVT3-1",
            "evidence": [
                {
                    "id": "0070279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80UK7-1",
            "uniprot_ac": "Q80UK7",
            "uniprot_id": "SAS6_MOUSE",
            "refseq_ac": "NP_001276497",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spindle assembly abnormal protein 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "SAS-6",
                    "type": "synonym"
                },
                {
                    "name": "Spindle assembly defective protein 6",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal protein 6 homolog isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly defective protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sass6",
                    "type": "recommended"
                },
                {
                    "name": "2810453L12Rik",
                    "type": "synonym"
                },
                {
                    "name": "SAS-6",
                    "type": "synonym"
                },
                {
                    "name": "Sas6",
                    "type": "synonym"
                },
                {
                    "name": "Sass6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80UK7-1",
            "evidence": [
                {
                    "id": "0070279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6UVJ0-1",
            "uniprot_ac": "Q6UVJ0",
            "uniprot_id": "SAS6_HUMAN",
            "refseq_ac": "NP_001291758",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spindle assembly abnormal protein 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "HsSAS-6",
                    "type": "synonym"
                },
                {
                    "name": "Spindle assembly defective protein 6",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal protein 6 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly defective protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SASS6",
                    "type": "recommended"
                },
                {
                    "name": "MCPH14",
                    "type": "synonym"
                },
                {
                    "name": "SAS-6",
                    "type": "synonym"
                },
                {
                    "name": "SAS6",
                    "type": "synonym"
                },
                {
                    "name": "SASS6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6UVJ0-1",
            "evidence": [
                {
                    "id": "616402",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616402"
                },
                {
                    "id": "0070279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L6Y8-1",
            "uniprot_ac": "A0ABK0L6Y8",
            "uniprot_id": "A0ABK0L6Y8_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spindle assembly abnormal protein 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Spindle assembly defective protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sass6",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L6Y8-1",
            "evidence": [
                {
                    "id": "0070279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAC8-1",
            "uniprot_ac": "Q9VAC8",
            "uniprot_id": "SAS6_DROME",
            "refseq_ac": "NP_651756",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spindle assembly abnormal protein 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG15524-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sas-6-PA",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 6 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "spindle assembly abnormal 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sas-6",
                    "type": "recommended"
                },
                {
                    "name": "CG15524",
                    "type": "synonym"
                },
                {
                    "name": "DSAS-6",
                    "type": "synonym"
                },
                {
                    "name": "DSas-6",
                    "type": "synonym"
                },
                {
                    "name": "DSas6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15524",
                    "type": "synonym"
                },
                {
                    "name": "Dsas6",
                    "type": "synonym"
                },
                {
                    "name": "SAS-6",
                    "type": "synonym"
                },
                {
                    "name": "SAS6",
                    "type": "synonym"
                },
                {
                    "name": "Sas-6",
                    "type": "synonym"
                },
                {
                    "name": "Sas6",
                    "type": "synonym"
                },
                {
                    "name": "dsas-6",
                    "type": "synonym"
                },
                {
                    "name": "sas-6",
                    "type": "synonym"
                },
                {
                    "name": "sas6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAC8-1",
            "evidence": [
                {
                    "id": "0070279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070279"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070279"
}