{
    "disease_id": "DOID:0061146",
    "recommended_name": {
        "id": "DOID:0061146",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061146",
        "name": "Pan-Chung-Bellen syndrome",
        "description": "A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11."
    },
    "synonyms": [
        {
            "id": "DOID:0061146",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061146",
            "name": "PCBS",
            "description": ""
        },
        {
            "id": "MONDO:0975953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975953",
            "name": "Pan-Chung-Bellen syndrome",
            "description": ""
        },
        {
            "id": "MIM:621049",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621049",
            "name": "Pan-Chung-Bellen syndrome",
            "description": "Pan-Chung-Bellen syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061146"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061146",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061146",
            "categories": []
        },
        {
            "id": "MONDO:0975953",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975953",
            "categories": []
        },
        {
            "id": "MIM:621049",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621049",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58I3F5-1",
            "uniprot_ac": "A0AC58I3F5",
            "uniprot_id": "A0AC58I3F5_DANRE",
            "refseq_ac": "XP_073788777",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein furry homolog-like isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein furry homolog-like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fryl",
                    "type": "recommended"
                },
                {
                    "name": "fc84g03",
                    "type": "synonym"
                },
                {
                    "name": "fryl",
                    "type": "synonym"
                },
                {
                    "name": "im:6912409",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-90m5.7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc84g03",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I3F5-1",
            "evidence": [
                {
                    "id": "0061146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F8VQ05-1",
            "uniprot_ac": "F8VQ05",
            "uniprot_id": "F8VQ05_MOUSE",
            "refseq_ac": "NP_082470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRY like transcription coactivator",
                    "type": "synonym"
                },
                {
                    "name": "furry homolog-like",
                    "type": "synonym"
                },
                {
                    "name": "protein furry homolog-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fryl",
                    "type": "recommended"
                },
                {
                    "name": "2010313D22Rik",
                    "type": "synonym"
                },
                {
                    "name": "2310004H21Rik",
                    "type": "synonym"
                },
                {
                    "name": "2510002A14Rik",
                    "type": "synonym"
                },
                {
                    "name": "9030227G01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fryl",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0826",
                    "type": "synonym"
                }
            ],
            "record_id": "F8VQ05-1",
            "evidence": [
                {
                    "id": "0061146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94915-1",
            "uniprot_ac": "O94915",
            "uniprot_id": "FRYL_HUMAN",
            "refseq_ac": "NP_055845",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein furry homolog-like",
                    "type": "recommended"
                },
                {
                    "name": "ALL1-fused gene from chromosome 4p12 protein",
                    "type": "synonym"
                },
                {
                    "name": "FRY-like",
                    "type": "synonym"
                },
                {
                    "name": "furry homolog-like",
                    "type": "synonym"
                },
                {
                    "name": "furry-like",
                    "type": "synonym"
                },
                {
                    "name": "mor2 cell polarity protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein furry homolog-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRYL",
                    "type": "recommended"
                },
                {
                    "name": "AF4P12",
                    "type": "synonym"
                },
                {
                    "name": "AF4p12",
                    "type": "synonym"
                },
                {
                    "name": "FRYL",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0826",
                    "type": "synonym"
                },
                {
                    "name": "MOR2",
                    "type": "synonym"
                },
                {
                    "name": "PCBS",
                    "type": "synonym"
                }
            ],
            "record_id": "O94915-1",
            "evidence": [
                {
                    "id": "621049",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621049"
                },
                {
                    "id": "0061146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40468-1",
            "uniprot_ac": "P40468",
            "uniprot_id": "TAO3_YEAST",
            "refseq_ac": "NP_012137",
            "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": "Cell morphogenesis protein PAG1",
                    "type": "recommended"
                },
                {
                    "name": "Protein TAO3",
                    "type": "synonym"
                },
                {
                    "name": "Tao3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAO3",
                    "type": "recommended"
                },
                {
                    "name": "PAG1",
                    "type": "synonym"
                },
                {
                    "name": "TAO3",
                    "type": "synonym"
                }
            ],
            "record_id": "P40468-1",
            "evidence": [
                {
                    "id": "0061146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQY4-1",
            "uniprot_ac": "D3ZQY4",
            "uniprot_id": "D3ZQY4_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": "FRY like transcription coactivator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fryl",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZQY4-1",
            "evidence": [
                {
                    "id": "0061146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VT28-1",
            "uniprot_ac": "Q9VT28",
            "uniprot_id": "FRY_DROME",
            "refseq_ac": "NP_729520",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein furry",
                    "type": "recommended"
                },
                {
                    "name": "CG32045-PB",
                    "type": "synonym"
                },
                {
                    "name": "fry-PB",
                    "type": "synonym"
                },
                {
                    "name": "furry, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "furry",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of GMR-sina 3-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fry",
                    "type": "recommended"
                },
                {
                    "name": "CG14171",
                    "type": "synonym"
                },
                {
                    "name": "CG32045",
                    "type": "synonym"
                },
                {
                    "name": "CG6774",
                    "type": "synonym"
                },
                {
                    "name": "CG6780",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32045",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32045",
                    "type": "synonym"
                },
                {
                    "name": "Fry",
                    "type": "synonym"
                },
                {
                    "name": "RE-B",
                    "type": "synonym"
                },
                {
                    "name": "SS3-7",
                    "type": "synonym"
                },
                {
                    "name": "fry",
                    "type": "synonym"
                },
                {
                    "name": "l(3)02240",
                    "type": "synonym"
                },
                {
                    "name": "yeti",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VT28-1",
            "evidence": [
                {
                    "id": "0061146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061146"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061146"
}