{
    "disease_id": "DOID:0111566",
    "recommended_name": {
        "id": "DOID:0111566",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111566",
        "name": "familial isolated trichomegaly",
        "description": "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111566",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111566",
            "name": "TCMGLY",
            "description": ""
        },
        {
            "id": "DOID:0111566",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111566",
            "name": "long eyelashes",
            "description": ""
        },
        {
            "id": "MONDO:0008593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008593",
            "name": "trichomegaly",
            "description": ""
        },
        {
            "id": "MONDO:0008593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008593",
            "name": "trichomegaly",
            "description": ""
        },
        {
            "id": "MONDO:0008593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008593",
            "name": "TCMGLY",
            "description": ""
        },
        {
            "id": "MIM:190330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/190330",
            "name": "Trichomegaly",
            "description": "Trichomegaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111566"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111566",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111566",
            "categories": []
        },
        {
            "id": "MONDO:0008593",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008593",
            "categories": []
        },
        {
            "id": "MIM:190330",
            "database": "MIM",
            "url": "https://www.omim.org/entry/190330",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15656-1",
            "uniprot_ac": "P15656",
            "uniprot_id": "FGF5_MOUSE",
            "refseq_ac": "NP_001264197",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "FGF-5",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-5",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor 5",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 3a",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 5 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth factor 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf5",
                    "type": "recommended"
                },
                {
                    "name": "Fgf-5",
                    "type": "synonym"
                },
                {
                    "name": "Fgf3a",
                    "type": "synonym"
                },
                {
                    "name": "Fgf5",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-5",
                    "type": "synonym"
                },
                {
                    "name": "angora",
                    "type": "synonym"
                },
                {
                    "name": "go",
                    "type": "synonym"
                }
            ],
            "record_id": "P15656-1",
            "evidence": [
                {
                    "id": "0111566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12034-1",
            "uniprot_ac": "P12034",
            "uniprot_id": "FGF5_HUMAN",
            "refseq_ac": "NP_004455",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "FGF-5",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-5",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor 5",
                    "type": "synonym"
                },
                {
                    "name": "Smag-82",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 5 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth factor 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF5",
                    "type": "recommended"
                },
                {
                    "name": "FGF5",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-5",
                    "type": "synonym"
                },
                {
                    "name": "Smag-82",
                    "type": "synonym"
                },
                {
                    "name": "TCMGLY",
                    "type": "synonym"
                }
            ],
            "record_id": "P12034-1",
            "evidence": [
                {
                    "id": "190330",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/190330"
                },
                {
                    "id": "0111566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48807-1",
            "uniprot_ac": "P48807",
            "uniprot_id": "FGF5_RAT",
            "refseq_ac": "NP_071547",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "FGF-5",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-5",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor 5",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 3a",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 5 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor FGF-5",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth factor 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf5",
                    "type": "recommended"
                },
                {
                    "name": "FGF-5",
                    "type": "synonym"
                },
                {
                    "name": "Fgf-5",
                    "type": "synonym"
                },
                {
                    "name": "Fgf3a",
                    "type": "synonym"
                },
                {
                    "name": "Fgf5",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-5",
                    "type": "synonym"
                }
            ],
            "record_id": "P48807-1",
            "evidence": [
                {
                    "id": "0111566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55006-1",
            "uniprot_ac": "O55006",
            "uniprot_id": "ROB1_RAT",
            "refseq_ac": "NP_113725",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein RoBo-1",
                    "type": "recommended"
                },
                {
                    "name": "Rodent bone protein",
                    "type": "synonym"
                },
                {
                    "name": "divalent metal transporter-1",
                    "type": "synonym"
                },
                {
                    "name": "protein RoBo-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein RoBo-1",
                    "type": "synonym"
                },
                {
                    "name": "rodent bone protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lypd8l1",
                    "type": "recommended"
                },
                {
                    "name": "DMT-1",
                    "type": "synonym"
                },
                {
                    "name": "Lypd8l1",
                    "type": "synonym"
                }
            ],
            "record_id": "O55006-1",
            "evidence": [
                {
                    "id": "0111566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111566"
                }
            ]
        },
        {
            "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": "0111566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111566"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111566"
}