{
    "disease_id": "DOID:0050655",
    "recommended_name": {
        "id": "DOID:0050655",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050655",
        "name": "Bamforth-Lazarus syndrome",
        "description": "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0050655",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050655",
            "name": "HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE",
            "description": ""
        },
        {
            "id": "MONDO:0009437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009437",
            "name": "Bamforth-Lazarus syndrome",
            "description": "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases."
        },
        {
            "id": "MONDO:0009437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009437",
            "name": "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009437",
            "name": "Bamforth syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009437",
            "name": "Bamforth-Lazarus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009437",
            "name": "hypothyroidism-cleft palate syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009437",
            "name": "hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate",
            "description": ""
        },
        {
            "id": "MIM:241850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/241850",
            "name": "Bamforth-Lazarus syndrome",
            "description": "Bamforth-Lazarus syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050655"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050655",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050655",
            "categories": []
        },
        {
            "id": "MONDO:0009437",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009437",
            "categories": []
        },
        {
            "id": "MIM:241850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/241850",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B6T0-1",
            "uniprot_ac": "A0A8M2B6T0",
            "uniprot_id": "A0A8M2B6T0_DANRE",
            "refseq_ac": "XP_005159967",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein E1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein E1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxe1",
                    "type": "recommended"
                },
                {
                    "name": "foxe1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B6T0-1",
            "evidence": [
                {
                    "id": "0050655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R2I0-1",
            "uniprot_ac": "Q8R2I0",
            "uniprot_id": "FOXE1_MOUSE",
            "refseq_ac": "NP_899121",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein E1",
                    "type": "recommended"
                },
                {
                    "name": "TTF-2",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein E1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid transcription factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxe1",
                    "type": "recommended"
                },
                {
                    "name": "Foxe1",
                    "type": "synonym"
                },
                {
                    "name": "TTF-2",
                    "type": "synonym"
                },
                {
                    "name": "Titf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2I0-1",
            "evidence": [
                {
                    "id": "0050655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00358-1",
            "uniprot_ac": "O00358",
            "uniprot_id": "FOXE1_HUMAN",
            "refseq_ac": "NP_004464",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein E1",
                    "type": "recommended"
                },
                {
                    "name": "Forkhead box protein E2",
                    "type": "synonym"
                },
                {
                    "name": "Forkhead-related protein FKHL15",
                    "type": "synonym"
                },
                {
                    "name": "HFKH4",
                    "type": "synonym"
                },
                {
                    "name": "HFKL5",
                    "type": "synonym"
                },
                {
                    "name": "HNF-3/fork head-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "TTF-2",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein E1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein E2",
                    "type": "synonym"
                },
                {
                    "name": "forkhead, drosophila, homolog-like 15",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL15",
                    "type": "synonym"
                },
                {
                    "name": "thyroid transcription factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXE1",
                    "type": "recommended"
                },
                {
                    "name": "BAMLAZ",
                    "type": "synonym"
                },
                {
                    "name": "FKHL15",
                    "type": "synonym"
                },
                {
                    "name": "FOXE1",
                    "type": "synonym"
                },
                {
                    "name": "FOXE2",
                    "type": "synonym"
                },
                {
                    "name": "HFKH4",
                    "type": "synonym"
                },
                {
                    "name": "HFKL5",
                    "type": "synonym"
                },
                {
                    "name": "NMTC4",
                    "type": "synonym"
                },
                {
                    "name": "TITF2",
                    "type": "synonym"
                },
                {
                    "name": "TTF-2",
                    "type": "synonym"
                },
                {
                    "name": "TTF2",
                    "type": "synonym"
                }
            ],
            "record_id": "O00358-1",
            "evidence": [
                {
                    "id": "241850",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/241850"
                },
                {
                    "id": "0050655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050655"
                }
            ]
        },
        {
            "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": "0050655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47861-1",
            "uniprot_ac": "P47861",
            "uniprot_id": "SYT5_RAT",
            "refseq_ac": "NP_062223",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptotagmin-5",
                    "type": "recommended"
                },
                {
                    "name": "Synaptotagmin IX",
                    "type": "synonym"
                },
                {
                    "name": "Synaptotagmin V",
                    "type": "synonym"
                },
                {
                    "name": "SytV",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin IX",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin V",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-5",
                    "type": "synonym"
                },
                {
                    "name": "sytV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syt5",
                    "type": "recommended"
                },
                {
                    "name": "Syt5",
                    "type": "synonym"
                },
                {
                    "name": "SytIX",
                    "type": "synonym"
                }
            ],
            "record_id": "P47861-1",
            "evidence": [
                {
                    "id": "0050655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050655"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050655"
}