{
    "disease_id": "DOID:0111673",
    "recommended_name": {
        "id": "DOID:0111673",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111673",
        "name": "Saul-Wilson syndrome",
        "description": "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111673",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111673",
            "name": "SWILS",
            "description": ""
        },
        {
            "id": "DOID:0111673",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111673",
            "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type",
            "description": ""
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type",
            "description": "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1."
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "SWILS",
            "description": ""
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "Saul-Wilson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "microcephalic osteodysplastic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0019407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "name": "microcephalic osteodysplastic dysplasia, Saul-Wilson type",
            "description": ""
        },
        {
            "id": "MIM:618150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618150",
            "name": "Saul-Wilson syndrome",
            "description": "Saul-Wilson syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111673"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111673",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111673",
            "categories": []
        },
        {
            "id": "MONDO:0019407",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019407",
            "categories": []
        },
        {
            "id": "MIM:618150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q29RB1-1",
            "uniprot_ac": "Q29RB1",
            "uniprot_id": "COG4_DANRE",
            "refseq_ac": "NP_001034912",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cog4",
                    "type": "recommended"
                },
                {
                    "name": "cog4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136860",
                    "type": "synonym"
                }
            ],
            "record_id": "Q29RB1-1",
            "evidence": [
                {
                    "id": "0111673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R1U1-1",
            "uniprot_ac": "Q8R1U1",
            "uniprot_id": "COG4_MOUSE",
            "refseq_ac": "NP_598734",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog4",
                    "type": "recommended"
                },
                {
                    "name": "Cog4",
                    "type": "synonym"
                },
                {
                    "name": "D8Ertd515e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1U1-1",
            "evidence": [
                {
                    "id": "0111673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H9E3-1",
            "uniprot_ac": "Q9H9E3",
            "uniprot_id": "COG4_HUMAN",
            "refseq_ac": "NP_056201",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "complexed with Dor1p",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex protein 4",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 4 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG4",
                    "type": "recommended"
                },
                {
                    "name": "CDG2J",
                    "type": "synonym"
                },
                {
                    "name": "COD1",
                    "type": "synonym"
                },
                {
                    "name": "COG4",
                    "type": "synonym"
                },
                {
                    "name": "SWILS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9E3-1",
            "evidence": [
                {
                    "id": "618150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618150"
                },
                {
                    "id": "0111673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06096-1",
            "uniprot_ac": "Q06096",
            "uniprot_id": "COG4_YEAST",
            "refseq_ac": "NP_015430",
            "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": "Conserved oligomeric Golgi complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "Golgi transport complex subunit COG4",
                    "type": "synonym"
                },
                {
                    "name": "Protein SEC38",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG4",
                    "type": "recommended"
                },
                {
                    "name": "COD1",
                    "type": "synonym"
                },
                {
                    "name": "COG4",
                    "type": "synonym"
                },
                {
                    "name": "P8283.16",
                    "type": "synonym"
                },
                {
                    "name": "SEC38",
                    "type": "synonym"
                },
                {
                    "name": "SGF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06096-1",
            "evidence": [
                {
                    "id": "0111673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZM3-1",
            "uniprot_ac": "D3ZZM3",
            "uniprot_id": "D3ZZM3_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": "Conserved oligomeric Golgi complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog4",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZZM3-1",
            "evidence": [
                {
                    "id": "0111673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95TN4-1",
            "uniprot_ac": "Q95TN4",
            "uniprot_id": "COG4_DROME",
            "refseq_ac": "NP_609413",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "CG7456-PA",
                    "type": "synonym"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Cog4-PA",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "component of oligomeric golgi complex 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog4",
                    "type": "recommended"
                },
                {
                    "name": "CG7456",
                    "type": "synonym"
                },
                {
                    "name": "Cog4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7456",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95TN4-1",
            "evidence": [
                {
                    "id": "0111673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111673"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111673"
}