{
    "disease_id": "DOID:0111509",
    "recommended_name": {
        "id": "DOID:0111509",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111509",
        "name": "lymphedema-distichiasis syndrome",
        "description": "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111509",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111509",
            "name": "LPHDST",
            "description": ""
        },
        {
            "id": "DOID:0111509",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111509",
            "name": "lymphedema with distichiasis",
            "description": ""
        },
        {
            "id": "MONDO:0007922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007922",
            "name": "lymphedema-distichiasis syndrome",
            "description": "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations."
        },
        {
            "id": "MONDO:0007922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007922",
            "name": "lymphedema-distichiasis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007922",
            "name": "hereditary lymphedema-distichiasis syndrome (subtype)",
            "description": ""
        },
        {
            "id": "MIM:153400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/153400",
            "name": "Lymphedema-distichiasis syndrome",
            "description": "Lymphedema-distichiasis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111509"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111509",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111509",
            "categories": []
        },
        {
            "id": "MONDO:0007922",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007922",
            "categories": []
        },
        {
            "id": "MIM:153400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/153400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61850-1",
            "uniprot_ac": "Q61850",
            "uniprot_id": "FOXC2_MOUSE",
            "refseq_ac": "NP_038547",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein C2",
                    "type": "recommended"
                },
                {
                    "name": "BF-3",
                    "type": "synonym"
                },
                {
                    "name": "Brain factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL14",
                    "type": "synonym"
                },
                {
                    "name": "MFH-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Mesenchyme fork head protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor FKH-14",
                    "type": "synonym"
                },
                {
                    "name": "brain factor 3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein C2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead homolog 14",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL14",
                    "type": "synonym"
                },
                {
                    "name": "mesenchyme fork head protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor FKH-14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxc2",
                    "type": "recommended"
                },
                {
                    "name": "Fkh14",
                    "type": "synonym"
                },
                {
                    "name": "Fkhl14",
                    "type": "synonym"
                },
                {
                    "name": "Foxc2",
                    "type": "synonym"
                },
                {
                    "name": "Hfhbf3",
                    "type": "synonym"
                },
                {
                    "name": "MFH-1",
                    "type": "synonym"
                },
                {
                    "name": "Mfh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61850-1",
            "evidence": [
                {
                    "id": "0111509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111509"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99958-1",
            "uniprot_ac": "Q99958",
            "uniprot_id": "FOXC2_HUMAN",
            "refseq_ac": "NP_005242",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein C2",
                    "type": "recommended"
                },
                {
                    "name": "Forkhead-related protein FKHL14",
                    "type": "synonym"
                },
                {
                    "name": "MFH-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "MFH-1,mesenchyme forkhead 1",
                    "type": "synonym"
                },
                {
                    "name": "Mesenchyme fork head protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor FKH-14",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box C2 (MFH-1, mesenchyme forkhead 1)",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein C2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead, Drosophila, homolog-like 14",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL14",
                    "type": "synonym"
                },
                {
                    "name": "mesenchyme fork head protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor FKH-14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXC2",
                    "type": "recommended"
                },
                {
                    "name": "FKHL14",
                    "type": "synonym"
                },
                {
                    "name": "FOXC2",
                    "type": "synonym"
                },
                {
                    "name": "LD",
                    "type": "synonym"
                },
                {
                    "name": "MFH-1",
                    "type": "synonym"
                },
                {
                    "name": "MFH1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99958-1",
            "evidence": [
                {
                    "id": "153400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/153400"
                },
                {
                    "id": "0111509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111509"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40466-1",
            "uniprot_ac": "P40466",
            "uniprot_id": "FKH1_YEAST",
            "refseq_ac": "NP_012135",
            "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": "Fork head protein homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "forkhead family transcription factor FKH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKH1",
                    "type": "recommended"
                },
                {
                    "name": "FKH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40466-1",
            "evidence": [
                {
                    "id": "0111509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111509"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63246-1",
            "uniprot_ac": "Q63246",
            "uniprot_id": "FOXC2_RAT",
            "refseq_ac": "NP_001095150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein C2",
                    "type": "recommended"
                },
                {
                    "name": "BF-3",
                    "type": "synonym"
                },
                {
                    "name": "Brain factor 3",
                    "type": "synonym"
                },
                {
                    "name": "HFH-BF-3",
                    "type": "synonym"
                },
                {
                    "name": "brain factor 3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box C2 (MFH-1, mesenchyme forkhead 1)",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein C2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxc2",
                    "type": "recommended"
                },
                {
                    "name": "Fkh14",
                    "type": "synonym"
                },
                {
                    "name": "Fkhl14",
                    "type": "synonym"
                },
                {
                    "name": "Foxc2",
                    "type": "synonym"
                },
                {
                    "name": "Hfhbf3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63246-1",
            "evidence": [
                {
                    "id": "0111509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111509"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62876-1",
            "uniprot_ac": "Q62876",
            "uniprot_id": "SNG1_RAT",
            "refseq_ac": "NP_062039",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptogyrin-1",
                    "type": "recommended"
                },
                {
                    "name": "p29",
                    "type": "synonym"
                },
                {
                    "name": "synaptogyrin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syngr1",
                    "type": "recommended"
                },
                {
                    "name": "Syngr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62876-1",
            "evidence": [
                {
                    "id": "0111509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111509"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32027-1",
            "uniprot_ac": "P32027",
            "uniprot_id": "CROC_DROME",
            "refseq_ac": "NP_524202",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fork head domain-containing protein crocodile",
                    "type": "recommended"
                },
                {
                    "name": "CG5069-PA",
                    "type": "synonym"
                },
                {
                    "name": "FD1 transcription unit",
                    "type": "synonym"
                },
                {
                    "name": "FKH protein FD1",
                    "type": "synonym"
                },
                {
                    "name": "croc-PA",
                    "type": "synonym"
                },
                {
                    "name": "crocodile",
                    "type": "synonym"
                },
                {
                    "name": "forkhead domain 78E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "croc",
                    "type": "recommended"
                },
                {
                    "name": "CG5069",
                    "type": "synonym"
                },
                {
                    "name": "Croc",
                    "type": "synonym"
                },
                {
                    "name": "Dm-FoxC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5069",
                    "type": "synonym"
                },
                {
                    "name": "Dmfd1",
                    "type": "synonym"
                },
                {
                    "name": "FD1",
                    "type": "synonym"
                },
                {
                    "name": "FD78E",
                    "type": "synonym"
                },
                {
                    "name": "FoxC",
                    "type": "synonym"
                },
                {
                    "name": "croc",
                    "type": "synonym"
                },
                {
                    "name": "fd1",
                    "type": "synonym"
                },
                {
                    "name": "fd78E",
                    "type": "synonym"
                }
            ],
            "record_id": "P32027-1",
            "evidence": [
                {
                    "id": "0111509",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111509"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111509"
}