{
    "disease_id": "DOID:0111813",
    "recommended_name": {
        "id": "DOID:0111813",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111813",
        "name": "syndactyly type 8",
        "description": "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111813",
            "name": "fusion of metacarpals 4 and 5",
            "description": ""
        },
        {
            "id": "DOID:0111813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111813",
            "name": "metacarpal 4-5 fusion",
            "description": ""
        },
        {
            "id": "MONDO:0010669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010669",
            "name": "syndactyly type 8",
            "description": "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers."
        },
        {
            "id": "MONDO:0010669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010669",
            "name": "FGF16 non-syndromic syndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0010669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010669",
            "name": "fusion of metacarpals 4 and 5",
            "description": ""
        },
        {
            "id": "MONDO:0010669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010669",
            "name": "metacarpal 4-5 fusion, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010669",
            "name": "non-syndromic syndactyly caused by mutation in FGF16",
            "description": ""
        },
        {
            "id": "MONDO:0010669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010669",
            "name": "MF4",
            "description": ""
        },
        {
            "id": "MONDO:0010669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010669",
            "name": "metacarpal 4-5 fusion",
            "description": ""
        },
        {
            "id": "MONDO:0010669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010669",
            "name": "metacarpals 4 and 5 fusion",
            "description": ""
        },
        {
            "id": "MIM:309630",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309630",
            "name": "Metacarpal 4-5 fusion",
            "description": "Metacarpal 4-5 fusion"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111813"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111813",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111813",
            "categories": []
        },
        {
            "id": "MONDO:0010669",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010669",
            "categories": []
        },
        {
            "id": "MIM:309630",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309630",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2HXK8-1",
            "uniprot_ac": "Q2HXK8",
            "uniprot_id": "FGF16_DANRE",
            "refseq_ac": "NP_001035497",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 16",
                    "type": "recommended"
                },
                {
                    "name": "FGF16",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growh factor 16",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fgf16",
                    "type": "recommended"
                },
                {
                    "name": "fgf16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2HXK8-1",
            "evidence": [
                {
                    "id": "0111813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESL8-1",
            "uniprot_ac": "Q9ESL8",
            "uniprot_id": "FGF16_MOUSE",
            "refseq_ac": "NP_085117",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 16",
                    "type": "recommended"
                },
                {
                    "name": "FGF-16",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 16",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 4c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf16",
                    "type": "recommended"
                },
                {
                    "name": "Fgf16",
                    "type": "synonym"
                },
                {
                    "name": "Fgf4c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESL8-1",
            "evidence": [
                {
                    "id": "0111813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43320-1",
            "uniprot_ac": "O43320",
            "uniprot_id": "FGF16_HUMAN",
            "refseq_ac": "NP_003859",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 16",
                    "type": "recommended"
                },
                {
                    "name": "FGF-16",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 16",
                    "type": "synonym"
                },
                {
                    "name": "metacarpal 4-5 fusion",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF16",
                    "type": "recommended"
                },
                {
                    "name": "FGF-16",
                    "type": "synonym"
                },
                {
                    "name": "FGF16",
                    "type": "synonym"
                },
                {
                    "name": "MF4",
                    "type": "synonym"
                }
            ],
            "record_id": "O43320-1",
            "evidence": [
                {
                    "id": "309630",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309630"
                },
                {
                    "id": "0111813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54769-1",
            "uniprot_ac": "O54769",
            "uniprot_id": "FGF16_RAT",
            "refseq_ac": "NP_068639",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 16",
                    "type": "recommended"
                },
                {
                    "name": "FGF-16",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf16",
                    "type": "recommended"
                },
                {
                    "name": "Fgf16",
                    "type": "synonym"
                }
            ],
            "record_id": "O54769-1",
            "evidence": [
                {
                    "id": "0111813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDT9-1",
            "uniprot_ac": "Q9VDT9",
            "uniprot_id": "Q9VDT9_DROME",
            "refseq_ac": "NP_732452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor",
                    "type": "recommended"
                },
                {
                    "name": "CG4608-PA",
                    "type": "synonym"
                },
                {
                    "name": "FGF",
                    "type": "synonym"
                },
                {
                    "name": "bnl-PA",
                    "type": "synonym"
                },
                {
                    "name": "branchless, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "branchless",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor protein",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor)",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bnl",
                    "type": "recommended"
                },
                {
                    "name": "BNL",
                    "type": "synonym"
                },
                {
                    "name": "Bnl/FGF",
                    "type": "synonym"
                },
                {
                    "name": "Bnl",
                    "type": "synonym"
                },
                {
                    "name": "Branchless",
                    "type": "synonym"
                },
                {
                    "name": "CG4608",
                    "type": "synonym"
                },
                {
                    "name": "DFGF",
                    "type": "synonym"
                },
                {
                    "name": "DmBnl",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4608",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4608",
                    "type": "synonym"
                },
                {
                    "name": "FGF-2",
                    "type": "synonym"
                },
                {
                    "name": "FGF",
                    "type": "synonym"
                },
                {
                    "name": "bnl",
                    "type": "synonym"
                },
                {
                    "name": "dFGF",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06916",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDT9-1",
            "evidence": [
                {
                    "id": "0111813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111813"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111813"
}