{
    "disease_id": "DOID:0060375",
    "recommended_name": {
        "id": "DOID:0060375",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060375",
        "name": "orofaciodigital syndrome V",
        "description": "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0060375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060375",
            "name": "polydactyly, postaxial, with median cleft of upper lip",
            "description": ""
        },
        {
            "id": "DOID:0060375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060375",
            "name": "OFD5",
            "description": ""
        },
        {
            "id": "DOID:0060375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060375",
            "name": "orofaciodigital syndrome Thurston type",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "orofaciodigital syndrome V",
            "description": "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)."
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "OFD5",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "Thurston syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "oral-facial-digital syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "orofaciodigital syndrome V",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "orofaciodigital syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "orofaciodigital syndrome type V",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "orofaciodigital syndrome, Thurston type",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "polydactyly postaxial with median cleft of upper lip",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "OFD syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "oral facial digital syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "oral facial digital syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "oral-facial-digital syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0008267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "name": "orofaciodigital syndrome 5",
            "description": ""
        },
        {
            "id": "MIM:174300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/174300",
            "name": "Orofaciodigital syndrome 5",
            "description": "Orofaciodigital syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060375"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060375",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060375",
            "categories": []
        },
        {
            "id": "MONDO:0008267",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008267",
            "categories": []
        },
        {
            "id": "MIM:174300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/174300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DBN9-1",
            "uniprot_ac": "Q9DBN9",
            "uniprot_id": "DDX59_MOUSE",
            "refseq_ac": "NP_080776",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent RNA helicase DDX59",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 59",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box protein 59",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger HIT domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX59",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger HIT domain-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddx59",
                    "type": "recommended"
                },
                {
                    "name": "1210002B07Rik",
                    "type": "synonym"
                },
                {
                    "name": "4833411G06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ddx59",
                    "type": "synonym"
                },
                {
                    "name": "Znhit5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBN9-1",
            "evidence": [
                {
                    "id": "0060375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T1V6-1",
            "uniprot_ac": "Q5T1V6",
            "uniprot_id": "DDX59_HUMAN",
            "refseq_ac": "NP_001026895",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent RNA helicase DDX59",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 59",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box protein 59",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger HIT domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX59 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX59",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger HIT domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger HIT-type containing 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDX59",
                    "type": "recommended"
                },
                {
                    "name": "DDX59",
                    "type": "synonym"
                },
                {
                    "name": "OFD5",
                    "type": "synonym"
                },
                {
                    "name": "ZNHIT5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T1V6-1",
            "evidence": [
                {
                    "id": "174300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/174300"
                },
                {
                    "id": "0060375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HG7-1",
            "uniprot_ac": "Q66HG7",
            "uniprot_id": "DDX59_RAT",
            "refseq_ac": "NP_001005535",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent RNA helicase DDX59",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 59",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box protein 59",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger HIT domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX59 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX59",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger HIT domain-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddx59",
                    "type": "recommended"
                },
                {
                    "name": "Ddx59",
                    "type": "synonym"
                },
                {
                    "name": "Znhit5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HG7-1",
            "evidence": [
                {
                    "id": "0060375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060375"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060375"
}