{
    "disease_id": "DOID:0111931",
    "recommended_name": {
        "id": "DOID:0111931",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111931",
        "name": "syndactyly-telecanthus-anogenital and renal malformations syndrome",
        "description": "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111931",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111931",
            "name": "STAR syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111931",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111931",
            "name": "syndactyly with renal and anogenital malformations",
            "description": ""
        },
        {
            "id": "DOID:0111931",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111931",
            "name": "toe syndactyly, telecanthus, and anogenital and renal malformations",
            "description": ""
        },
        {
            "id": "MONDO:0010408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010408",
            "name": "syndactyly-telecanthus-anogenital and renal malformations syndrome",
            "description": "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia."
        },
        {
            "id": "MONDO:0010408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010408",
            "name": "STAR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010408",
            "name": "STAR syndrome, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010408",
            "name": "syndactyly-telecanthus-anogenital and renal malformations syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010408",
            "name": "STAR",
            "description": ""
        },
        {
            "id": "MONDO:0010408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010408",
            "name": "syndactyly, telecanthus, anogenital and renal malformations",
            "description": ""
        },
        {
            "id": "MONDO:0010408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010408",
            "name": "toe syndactyly, telecanthus, and anogenital and renal malformations",
            "description": ""
        },
        {
            "id": "MONDO:0010408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010408",
            "name": "toe syndactyly, telecanthus, anogenital and renal malformations",
            "description": ""
        },
        {
            "id": "MIM:300707",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300707",
            "name": "Toe syndactyly, telecanthus, and anogenital and renal malformations",
            "description": "Toe syndactyly, telecanthus, and anogenital and renal malformations"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111931"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111931",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111931",
            "categories": []
        },
        {
            "id": "MONDO:0010408",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010408",
            "categories": []
        },
        {
            "id": "MIM:300707",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300707",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q503D6-1",
            "uniprot_ac": "Q503D6",
            "uniprot_id": "CCNQ_DANRE",
            "refseq_ac": "NP_001018459",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-Q",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin-related protein FAM58A",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-Q",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-related protein FAM58A",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 58, member A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccnq",
                    "type": "recommended"
                },
                {
                    "name": "ccnq",
                    "type": "synonym"
                },
                {
                    "name": "fam58a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110684",
                    "type": "synonym"
                }
            ],
            "record_id": "Q503D6-1",
            "evidence": [
                {
                    "id": "0111931",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111931"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8QZR8-1",
            "uniprot_ac": "Q8QZR8",
            "uniprot_id": "CCNQ_MOUSE",
            "refseq_ac": "NP_932106",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-Q",
                    "type": "recommended"
                },
                {
                    "name": "CDK10-activating cyclin",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-M",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-related protein FAM58A",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-related protein FAM58B",
                    "type": "synonym"
                },
                {
                    "name": "cyclin M",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-Q",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-related protein FAM58A",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-related protein FAM58B",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 58, member B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccnq",
                    "type": "recommended"
                },
                {
                    "name": "1810009O10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccnq",
                    "type": "synonym"
                },
                {
                    "name": "Fam58a",
                    "type": "synonym"
                },
                {
                    "name": "Fam58b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8QZR8-1",
            "evidence": [
                {
                    "id": "0111931",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111931"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N1B3-1",
            "uniprot_ac": "Q8N1B3",
            "uniprot_id": "CCNQ_HUMAN",
            "refseq_ac": "NP_001124469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-Q",
                    "type": "recommended"
                },
                {
                    "name": "CDK10-activating cyclin",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-M",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-related protein FAM58A",
                    "type": "synonym"
                },
                {
                    "name": "cyclin M",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-Q isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-related protein FAM58A",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 58 member A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCNQ",
                    "type": "recommended"
                },
                {
                    "name": "CCNQ",
                    "type": "synonym"
                },
                {
                    "name": "CycM",
                    "type": "synonym"
                },
                {
                    "name": "FAM58A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N1B3-1",
            "evidence": [
                {
                    "id": "300707",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300707"
                },
                {
                    "id": "0111931",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111931"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4QQW5-1",
            "uniprot_ac": "Q4QQW5",
            "uniprot_id": "CCNQ_RAT",
            "refseq_ac": "NP_001020583",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-Q",
                    "type": "recommended"
                },
                {
                    "name": "CDK10-activating cyclin",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-M",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-related protein FAM58A",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-M",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-Q",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-related protein FAM58A",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 58, member B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccnq",
                    "type": "recommended"
                },
                {
                    "name": "Ccnq",
                    "type": "synonym"
                },
                {
                    "name": "Fam58a",
                    "type": "synonym"
                },
                {
                    "name": "Fam58b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305651",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4QQW5-1",
            "evidence": [
                {
                    "id": "0111931",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111931"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE72-1",
            "uniprot_ac": "Q9VE72",
            "uniprot_id": "Q9VE72_DROME",
            "refseq_ac": "NP_732338",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-Q",
                    "type": "recommended"
                },
                {
                    "name": "CG44010-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-related protein FAM58A",
                    "type": "synonym"
                },
                {
                    "name": "koko-PB",
                    "type": "synonym"
                },
                {
                    "name": "kokopelli, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "kokopelli",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "koko",
                    "type": "recommended"
                },
                {
                    "name": "CG31232",
                    "type": "synonym"
                },
                {
                    "name": "CG44010",
                    "type": "synonym"
                },
                {
                    "name": "CG7683",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44010",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44010",
                    "type": "synonym"
                },
                {
                    "name": "koko",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE72-1",
            "evidence": [
                {
                    "id": "0111931",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111931"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111931"
}