{
    "disease_id": "DOID:0112148",
    "recommended_name": {
        "id": "DOID:0112148",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112148",
        "name": "Uruguay faciocardiomusculoskeletal syndrome",
        "description": "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112148",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112148",
            "name": "FCMSU",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "Uruguay Faciocardiomusculoskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "Uruguay Faciocardiomusculoskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "FCMSU",
            "description": ""
        },
        {
            "id": "MIM:300280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300280",
            "name": "Uruguay faciocardiomusculoskeletal syndrome",
            "description": "Uruguay faciocardiomusculoskeletal syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112148"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112148",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112148",
            "categories": []
        },
        {
            "id": "MONDO:0010292",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "categories": []
        },
        {
            "id": "MIM:300280",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300280",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B625-1",
            "uniprot_ac": "A0ACD6B625",
            "uniprot_id": "A0ACD6B625_DANRE",
            "refseq_ac": "XP_009303585",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Four and a half LIM domains protein 1",
                    "type": "recommended"
                },
                {
                    "name": "four and a half LIM domains protein 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fhl1b",
                    "type": "recommended"
                },
                {
                    "name": "cb1039",
                    "type": "synonym"
                },
                {
                    "name": "fhl1b",
                    "type": "synonym"
                },
                {
                    "name": "fhl",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B625-1",
            "evidence": [
                {
                    "id": "0112148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112148"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97447-1",
            "uniprot_ac": "P97447",
            "uniprot_id": "FHL1_MOUSE",
            "refseq_ac": "NP_001070830",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Four and a half LIM domains protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FHL-1",
                    "type": "synonym"
                },
                {
                    "name": "KyoT",
                    "type": "synonym"
                },
                {
                    "name": "RAM14-1",
                    "type": "synonym"
                },
                {
                    "name": "RBP-associated molecule 14-1",
                    "type": "synonym"
                },
                {
                    "name": "SLIM-1",
                    "type": "synonym"
                },
                {
                    "name": "SLIM",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle LIM-protein 1",
                    "type": "synonym"
                },
                {
                    "name": "four and a half LIM domains protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "four and a half LIM domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle LIM-protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fhl1",
                    "type": "recommended"
                },
                {
                    "name": "FHL-1",
                    "type": "synonym"
                },
                {
                    "name": "Fhl1",
                    "type": "synonym"
                },
                {
                    "name": "KyoT",
                    "type": "synonym"
                },
                {
                    "name": "RAM14-1",
                    "type": "synonym"
                },
                {
                    "name": "SLIM-1",
                    "type": "synonym"
                },
                {
                    "name": "SLIM",
                    "type": "synonym"
                }
            ],
            "record_id": "P97447-1",
            "evidence": [
                {
                    "id": "0112148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112148"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13642-2",
            "uniprot_ac": "Q13642",
            "uniprot_id": "FHL1_HUMAN",
            "refseq_ac": "NP_001153171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Four and a half LIM domains protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FHL-1",
                    "type": "synonym"
                },
                {
                    "name": "LIM protein SLIMMER",
                    "type": "synonym"
                },
                {
                    "name": "SLIM-1",
                    "type": "synonym"
                },
                {
                    "name": "SLIM",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle LIM-protein 1",
                    "type": "synonym"
                },
                {
                    "name": "four and a half LIM domains protein 1 isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "four-and-a-half Lin11, Isl-1 and Mec-3 domains 1",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle LIM-protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FHL1",
                    "type": "recommended"
                },
                {
                    "name": "FCMSU",
                    "type": "synonym"
                },
                {
                    "name": "FHL-1",
                    "type": "synonym"
                },
                {
                    "name": "FHL1A",
                    "type": "synonym"
                },
                {
                    "name": "FHL1B",
                    "type": "synonym"
                },
                {
                    "name": "FHL1",
                    "type": "synonym"
                },
                {
                    "name": "FLH1A",
                    "type": "synonym"
                },
                {
                    "name": "KYOT",
                    "type": "synonym"
                },
                {
                    "name": "RBMX1A",
                    "type": "synonym"
                },
                {
                    "name": "RBMX1B",
                    "type": "synonym"
                },
                {
                    "name": "SLIM-1",
                    "type": "synonym"
                },
                {
                    "name": "SLIM1",
                    "type": "synonym"
                },
                {
                    "name": "SLIMMER",
                    "type": "synonym"
                },
                {
                    "name": "SLIM",
                    "type": "synonym"
                },
                {
                    "name": "XMPMA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13642-2",
            "evidence": [
                {
                    "id": "300280",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300280"
                },
                {
                    "id": "0112148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112148"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WUH4-1",
            "uniprot_ac": "Q9WUH4",
            "uniprot_id": "FHL1_RAT",
            "refseq_ac": "NP_001258128",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Four and a half LIM domains protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FHL-1",
                    "type": "synonym"
                },
                {
                    "name": "four and a half LIM domains protein 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "four and a half LIM domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle LIM-protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fhl1",
                    "type": "recommended"
                },
                {
                    "name": "Fhl1",
                    "type": "synonym"
                },
                {
                    "name": "SLIM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUH4-1",
            "evidence": [
                {
                    "id": "0112148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112148"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70594-1",
            "uniprot_ac": "O70594",
            "uniprot_id": "S22A5_RAT",
            "refseq_ac": "NP_062142",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Organic cation/carnitine transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "CT1",
                    "type": "synonym"
                },
                {
                    "name": "High-affinity sodium-dependent carnitine cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 22 member 5",
                    "type": "synonym"
                },
                {
                    "name": "UST2r",
                    "type": "synonym"
                },
                {
                    "name": "high-affinity carnitine transporter",
                    "type": "synonym"
                },
                {
                    "name": "high-affinity sodium-dependent carnitine cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane transport protein",
                    "type": "synonym"
                },
                {
                    "name": "organic cation/carnitine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 22 (organic cation transporter), member 5",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 22 (organic cation/carnitine transporter), member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc22a21",
                    "type": "recommended"
                },
                {
                    "name": "Slc22a5",
                    "type": "recommended"
                },
                {
                    "name": "CT1",
                    "type": "synonym"
                },
                {
                    "name": "LOC303140",
                    "type": "synonym"
                },
                {
                    "name": "OCTN2",
                    "type": "synonym"
                },
                {
                    "name": "Octn2",
                    "type": "synonym"
                },
                {
                    "name": "Slc22a5",
                    "type": "synonym"
                },
                {
                    "name": "UST2r",
                    "type": "synonym"
                }
            ],
            "record_id": "O70594-1",
            "evidence": [
                {
                    "id": "0112148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112148"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20813-1",
            "uniprot_ac": "P20813",
            "uniprot_id": "CP2B6_HUMAN",
            "refseq_ac": "NP_000758",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2B6",
                    "type": "recommended"
                },
                {
                    "name": "1,4-cineole 2-exo-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "1.14.13.-",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIB6",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 IIB1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2B6",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 IIB1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 2, subfamily B, polypeptide 6",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP2B6",
                    "type": "recommended"
                },
                {
                    "name": "CPB6",
                    "type": "synonym"
                },
                {
                    "name": "CYP2B6",
                    "type": "synonym"
                },
                {
                    "name": "CYP2B7",
                    "type": "synonym"
                },
                {
                    "name": "CYP2B",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIB6",
                    "type": "synonym"
                },
                {
                    "name": "EFVM",
                    "type": "synonym"
                },
                {
                    "name": "IIB1",
                    "type": "synonym"
                },
                {
                    "name": "P450",
                    "type": "synonym"
                }
            ],
            "record_id": "P20813-1",
            "evidence": [
                {
                    "id": "0112148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112148"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112148"
}