{
    "disease_id": "DOID:0050774",
    "recommended_name": {
        "id": "DOID:0050774",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050774",
        "name": "rapadilino syndrome",
        "description": "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "rapadilino syndrome",
            "description": "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence."
        },
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "rapadilino syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate",
            "description": ""
        },
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "radial and patellar aplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "name": "radial and patellar hypoplasia",
            "description": ""
        },
        {
            "id": "MIM:266280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266280",
            "name": "RAPADILINO syndrome",
            "description": "RAPADILINO syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050774"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050774",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050774",
            "categories": []
        },
        {
            "id": "MONDO:0009955",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009955",
            "categories": []
        },
        {
            "id": "MIM:266280",
            "database": "MIM",
            "url": "https://www.omim.org/entry/266280",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2M7-1",
            "uniprot_ac": "E7F2M7",
            "uniprot_id": "E7F2M7_DANRE",
            "refseq_ac": "XP_001920631",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like type 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ protein-like 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "recql4",
                    "type": "recommended"
                },
                {
                    "name": "recql4",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2M7-1",
            "evidence": [
                {
                    "id": "0050774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050774"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q75NR7-1",
            "uniprot_ac": "Q75NR7",
            "uniprot_id": "RECQ4_MOUSE",
            "refseq_ac": "NP_478121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like type 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ helicase protein-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ protein-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Recql4",
                    "type": "recommended"
                },
                {
                    "name": "RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "Recq4",
                    "type": "synonym"
                },
                {
                    "name": "Recql4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q75NR7-1",
            "evidence": [
                {
                    "id": "0050774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050774"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94761-1",
            "uniprot_ac": "O94761",
            "uniprot_id": "RECQ4_HUMAN",
            "refseq_ac": "NP_004251",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like type 4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like, type 4",
                    "type": "synonym"
                },
                {
                    "name": "RTS",
                    "type": "synonym"
                },
                {
                    "name": "RecQ helicase-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ protein-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RECQL4",
                    "type": "recommended"
                },
                {
                    "name": "RECQ4",
                    "type": "synonym"
                },
                {
                    "name": "RECQL4",
                    "type": "synonym"
                }
            ],
            "record_id": "O94761-1",
            "evidence": [
                {
                    "id": "266280",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/266280"
                },
                {
                    "id": "0050774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050774"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05549-1",
            "uniprot_ac": "Q05549",
            "uniprot_id": "HRQ1_YEAST",
            "refseq_ac": "NP_010577",
            "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": "ATP-dependent helicase HRQ1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent 3'-5' DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase HRQ1",
                    "type": "synonym"
                },
                {
                    "name": "Homologous to recQ protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HRQ1",
                    "type": "recommended"
                },
                {
                    "name": "HRQ1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05549-1",
            "evidence": [
                {
                    "id": "0050774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050774"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L7P8-1",
            "uniprot_ac": "A0ABK0L7P8",
            "uniprot_id": "A0ABK0L7P8_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": "DNA 3'-5' helicase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Recql4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L7P8-1",
            "evidence": [
                {
                    "id": "0050774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050774"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSE6-1",
            "uniprot_ac": "Q9VSE6",
            "uniprot_id": "Q9VSE6_DROME",
            "refseq_ac": "NP_652607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase Q4",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "CG7487-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase, RecQ-like type 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ protein-like 4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4 helicase",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RecQ4",
                    "type": "recommended"
                },
                {
                    "name": "CG7487",
                    "type": "synonym"
                },
                {
                    "name": "DmRECQ4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7487",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7487",
                    "type": "synonym"
                },
                {
                    "name": "RECQ4",
                    "type": "synonym"
                },
                {
                    "name": "RECQL4",
                    "type": "synonym"
                },
                {
                    "name": "RecQ4",
                    "type": "synonym"
                },
                {
                    "name": "cg7487",
                    "type": "synonym"
                },
                {
                    "name": "dRecQ4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSE6-1",
            "evidence": [
                {
                    "id": "0050774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050774"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050774"
}