{
    "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": []
}