{
    "disease_id": "DOID:0050681",
    "recommended_name": {
        "id": "DOID:0050681",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050681",
        "name": "Borjeson-Forssman-Lehmann syndrome",
        "description": "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "mental retardation, epilepsy, and endocrine disorder",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "intellectual deficiency-epilepsy-endocrine disorders syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "BFLS",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "BORJ",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "Borjeson syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "name": "MRXSBFL",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Borjeson-Forssman-Lehmann syndrome",
            "description": "A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes."
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "BFLS",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "BORJ",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Borjeson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Borjeson-Forssman-Lehmann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Borjeson-Forssman-Lehmann syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "Brjeson-Forssman-Lehman Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "MRXSBFL",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "intellectual disability, epilepsy, and endocrine disorder",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "intellectual disability-epilepsy-endocrine disorders syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "mental deficiency, epilepsy and endocrine disorders",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type",
            "description": ""
        },
        {
            "id": "MONDO:0010537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "name": "mental retardation, epilepsy, and endocrine disorders",
            "description": ""
        },
        {
            "id": "MIM:301900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301900",
            "name": "Boerjeson-Forssman-Lehmann syndrome",
            "description": "Boerjeson-Forssman-Lehmann syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050681"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050681",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050681",
            "categories": []
        },
        {
            "id": "MONDO:0010537",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010537",
            "categories": []
        },
        {
            "id": "MIM:301900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D4J7-1",
            "uniprot_ac": "Q9D4J7",
            "uniprot_id": "PHF6_MOUSE",
            "refseq_ac": "NP_001277475",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PHD finger protein 6",
                    "type": "recommended"
                },
                {
                    "name": "PHD finger protein 6 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phf6",
                    "type": "recommended"
                },
                {
                    "name": "2700007B13Rik",
                    "type": "synonym"
                },
                {
                    "name": "4931428F02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1823",
                    "type": "synonym"
                },
                {
                    "name": "Phf6",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1823",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D4J7-1",
            "evidence": [
                {
                    "id": "0050681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWS0-1",
            "uniprot_ac": "Q8IWS0",
            "uniprot_id": "PHF6_HUMAN",
            "refseq_ac": "NP_001015877",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PHD finger protein 6",
                    "type": "recommended"
                },
                {
                    "name": "PHD finger protein 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "PHD-like zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein 31",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHF6",
                    "type": "recommended"
                },
                {
                    "name": "BFLS",
                    "type": "synonym"
                },
                {
                    "name": "BORJ",
                    "type": "synonym"
                },
                {
                    "name": "CENP-31",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1823",
                    "type": "synonym"
                },
                {
                    "name": "PHF6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWS0-1",
            "evidence": [
                {
                    "id": "301900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301900"
                },
                {
                    "id": "0050681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQV8-1",
            "uniprot_ac": "D3ZQV8",
            "uniprot_id": "D3ZQV8_RAT",
            "refseq_ac": "NP_001389157",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "PHD finger protein 6",
                    "type": "recommended"
                },
                {
                    "name": "PHD finger protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phf6",
                    "type": "recommended"
                },
                {
                    "name": "Phf6",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZQV8-1",
            "evidence": [
                {
                    "id": "0050681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050681"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050681"
}