{
    "disease_id": "DOID:0081243",
    "recommended_name": {
        "id": "DOID:0081243",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081243",
        "name": "rhizomelic chondrodysplasia punctate type 4",
        "description": "A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency."
    },
    "synonyms": [
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "fatty acyl-CoA reductase 1 deficiency",
            "description": "A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency."
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "FAR1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "fatty acyl-CoA reductase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "fatty acyl-CoA reductase 1 disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "rhizomelic chondrodysplasia punctata type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "PFCRD",
            "description": ""
        },
        {
            "id": "MONDO:0014510",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "name": "peroxisomal fatty acyl-CoA reductase 1 disorder",
            "description": ""
        },
        {
            "id": "MIM:616154",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616154",
            "name": "Peroxisomal fatty acyl-CoA reductase 1 disorder",
            "description": "Peroxisomal fatty acyl-CoA reductase 1 disorder"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081243"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081243",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081243",
            "categories": []
        },
        {
            "id": "MONDO:0014510",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014510",
            "categories": []
        },
        {
            "id": "MIM:616154",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616154",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BLL5-1",
            "uniprot_ac": "A0A8M2BLL5",
            "uniprot_id": "A0A8M2BLL5_DANRE",
            "refseq_ac": "NP_001429320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.84",
                    "type": "synonym"
                },
                {
                    "name": "fatty acyl-CoA reductase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "male sterility domain containing 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "far1",
                    "type": "recommended"
                },
                {
                    "name": "far1",
                    "type": "synonym"
                },
                {
                    "name": "fc22d12",
                    "type": "synonym"
                },
                {
                    "name": "mlstd2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc22d12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55416",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BLL5-1",
            "evidence": [
                {
                    "id": "0081243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922J9-1",
            "uniprot_ac": "Q922J9",
            "uniprot_id": "FACR1_MOUSE",
            "refseq_ac": "NP_001272760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acyl-CoA reductase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.84",
                    "type": "synonym"
                },
                {
                    "name": "Far1",
                    "type": "synonym"
                },
                {
                    "name": "fatty acyl-CoA reductase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "male sterility domain containing 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Far1",
                    "type": "recommended"
                },
                {
                    "name": "2600011M19Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900034E22Rik",
                    "type": "synonym"
                },
                {
                    "name": "3732409C05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Far1",
                    "type": "synonym"
                },
                {
                    "name": "Mlstd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922J9-1",
            "evidence": [
                {
                    "id": "0081243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WVX9-1",
            "uniprot_ac": "Q8WVX9",
            "uniprot_id": "FACR1_HUMAN",
            "refseq_ac": "NP_115604",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acyl-CoA reductase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.84",
                    "type": "synonym"
                },
                {
                    "name": "FAR1",
                    "type": "synonym"
                },
                {
                    "name": "Male sterility domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "fatty acyl-CoA reductase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "male sterility domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 10E, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAR1",
                    "type": "recommended"
                },
                {
                    "name": "CSPSD",
                    "type": "synonym"
                },
                {
                    "name": "FAR1",
                    "type": "synonym"
                },
                {
                    "name": "MLSTD2",
                    "type": "synonym"
                },
                {
                    "name": "PFCRD",
                    "type": "synonym"
                },
                {
                    "name": "PRO4981",
                    "type": "synonym"
                },
                {
                    "name": "SDR10E1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVX9-1",
            "evidence": [
                {
                    "id": "616154",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616154"
                },
                {
                    "id": "0081243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66H50-1",
            "uniprot_ac": "Q66H50",
            "uniprot_id": "FACR1_RAT",
            "refseq_ac": "NP_001011933",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acyl-CoA reductase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.84",
                    "type": "synonym"
                },
                {
                    "name": "Far1",
                    "type": "synonym"
                },
                {
                    "name": "fatty acyl-CoA reductase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "male sterility domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "male sterility domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Far1",
                    "type": "recommended"
                },
                {
                    "name": "Far1",
                    "type": "synonym"
                },
                {
                    "name": "Mlstd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66H50-1",
            "evidence": [
                {
                    "id": "0081243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAI5-1",
            "uniprot_ac": "A1ZAI5",
            "uniprot_id": "FACR1_DROME",
            "refseq_ac": "NP_001163168",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative fatty acyl-CoA reductase CG5065",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.84",
                    "type": "synonym"
                },
                {
                    "name": "CG5065-PB",
                    "type": "synonym"
                },
                {
                    "name": "fatty acyl-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5065",
                    "type": "recommended"
                },
                {
                    "name": "2",
                    "type": "synonym"
                },
                {
                    "name": "CG5065",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5065",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5065",
                    "type": "synonym"
                },
                {
                    "name": "FAR1/2",
                    "type": "synonym"
                },
                {
                    "name": "FAR1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAI5-1",
            "evidence": [
                {
                    "id": "0081243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081243"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W508-1",
            "uniprot_ac": "Q9W508",
            "uniprot_id": "Q9W508_DROME",
            "refseq_ac": "NP_652021",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fatty acyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.84",
                    "type": "synonym"
                },
                {
                    "name": "CG18031-PA",
                    "type": "synonym"
                },
                {
                    "name": "FarO-PA",
                    "type": "synonym"
                },
                {
                    "name": "fatty acyl-CoA reductase in oenocytes",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FarO",
                    "type": "recommended"
                },
                {
                    "name": "CG18031",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18031",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18031",
                    "type": "synonym"
                },
                {
                    "name": "EG:103B4.2",
                    "type": "synonym"
                },
                {
                    "name": "FarO",
                    "type": "synonym"
                },
                {
                    "name": "farO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W508-1",
            "evidence": [
                {
                    "id": "0081243",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081243"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081243"
}