{
    "disease_id": "DOID:0070653",
    "recommended_name": {
        "id": "DOID:0070653",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070653",
        "name": "Fliedner-Zweier syndrome",
        "description": "A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070653",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070653",
            "name": "SCAF4-related syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0957787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957787",
            "name": "Fliedner-Zweier syndrome",
            "description": ""
        },
        {
            "id": "MIM:620511",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620511",
            "name": "Fliedner-Zweier syndrome",
            "description": "Fliedner-Zweier syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070653"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070653",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070653",
            "categories": []
        },
        {
            "id": "MONDO:0957787",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957787",
            "categories": []
        },
        {
            "id": "MIM:620511",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620511",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F4U8-1",
            "uniprot_ac": "E7F4U8",
            "uniprot_id": "E7F4U8_DANRE",
            "refseq_ac": "XP_695887",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SR-related and CTD-associated factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scaf4a",
                    "type": "recommended"
                },
                {
                    "name": "scaf4a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F4U8-1",
            "evidence": [
                {
                    "id": "0070653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "R4GE22-1",
            "uniprot_ac": "R4GE22",
            "uniprot_id": "R4GE22_DANRE",
            "refseq_ac": "NP_001373157",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SR-related and CTD-associated factor 4b isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scaf4b",
                    "type": "recommended"
                },
                {
                    "name": "im:6900467",
                    "type": "synonym"
                },
                {
                    "name": "scaf4b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-245g11.2",
                    "type": "synonym"
                }
            ],
            "record_id": "R4GE22-1",
            "evidence": [
                {
                    "id": "0070653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSH6-1",
            "uniprot_ac": "Q7TSH6",
            "uniprot_id": "SCAF4_MOUSE",
            "refseq_ac": "NP_001333728",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SR-related and CTD-associated factor 4",
                    "type": "recommended"
                },
                {
                    "name": "CTD-binding SR-like protein RA4",
                    "type": "synonym"
                },
                {
                    "name": "SR-related and CTD-associated factor 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "SR-related and CTD-associated factor 4",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 15",
                    "type": "synonym"
                },
                {
                    "name": "serine/arginine-rich splicing factor 15",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scaf4",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1172",
                    "type": "synonym"
                },
                {
                    "name": "Scaf4",
                    "type": "synonym"
                },
                {
                    "name": "Sfrs15",
                    "type": "synonym"
                },
                {
                    "name": "Sra4",
                    "type": "synonym"
                },
                {
                    "name": "Srsf15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSH6-1",
            "evidence": [
                {
                    "id": "0070653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95104-1",
            "uniprot_ac": "O95104",
            "uniprot_id": "SCAF4_HUMAN",
            "refseq_ac": "NP_001138916",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SR-related and CTD-associated factor 4",
                    "type": "recommended"
                },
                {
                    "name": "CTD-binding SR-like protein RA4",
                    "type": "synonym"
                },
                {
                    "name": "CTD-binding SR-like protein rA4",
                    "type": "synonym"
                },
                {
                    "name": "SR-like CTD-associated factor 4",
                    "type": "synonym"
                },
                {
                    "name": "SR-related and CTD-associated factor 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 15",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA splicing SR protein rA4",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor serine alanine 15",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor, arginine/serine-rich 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCAF4",
                    "type": "recommended"
                },
                {
                    "name": "FZS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1172",
                    "type": "synonym"
                },
                {
                    "name": "SCAF4",
                    "type": "synonym"
                },
                {
                    "name": "SFRS15",
                    "type": "synonym"
                },
                {
                    "name": "SRA4",
                    "type": "synonym"
                }
            ],
            "record_id": "O95104-1",
            "evidence": [
                {
                    "id": "620511",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620511"
                },
                {
                    "id": "0070653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53617-1",
            "uniprot_ac": "P53617",
            "uniprot_id": "NRD1_YEAST",
            "refseq_ac": "NP_014148",
            "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": "Protein NRD1",
                    "type": "recommended"
                },
                {
                    "name": "Nrd1 complex RNA-binding subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NRD1",
                    "type": "recommended"
                },
                {
                    "name": "N0868",
                    "type": "synonym"
                },
                {
                    "name": "NRD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53617-1",
            "evidence": [
                {
                    "id": "0070653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63627-1",
            "uniprot_ac": "Q63627",
            "uniprot_id": "SCAF4_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": "SR-related and CTD-associated factor 4",
                    "type": "recommended"
                },
                {
                    "name": "CTD-binding SR-like protein RA4",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor, arginine/serine-rich 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scaf4",
                    "type": "recommended"
                },
                {
                    "name": "Sfrs15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63627-1",
            "evidence": [
                {
                    "id": "0070653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYK5-1",
            "uniprot_ac": "A8DYK5",
            "uniprot_id": "A8DYK5_DROME",
            "refseq_ac": "NP_001097394",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4266-PB",
                    "type": "synonym"
                },
                {
                    "name": "Insulator su(Hw) mRNA adaptor, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Isha-PB",
                    "type": "synonym"
                },
                {
                    "name": "insulator su(Hw) mRNA adaptor, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Isha",
                    "type": "recommended"
                },
                {
                    "name": "CG4266",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4266",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4266",
                    "type": "synonym"
                },
                {
                    "name": "Isha",
                    "type": "synonym"
                },
                {
                    "name": "cg4266",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYK5-1",
            "evidence": [
                {
                    "id": "0070653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070653"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070653"
}