{
    "disease_id": "DOID:14501",
    "recommended_name": {
        "id": "DOID:14501",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14501",
        "name": "Sjogren-Larsson syndrome",
        "description": "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11."
    },
    "synonyms": [
        {
            "id": "DOID:14501",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14501",
            "name": "FALDH deficiency",
            "description": ""
        },
        {
            "id": "DOID:14501",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14501",
            "name": "SLS",
            "description": ""
        },
        {
            "id": "DOID:14501",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14501",
            "name": "Sjogren Larsson syndrome",
            "description": ""
        },
        {
            "id": "DOID:14501",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14501",
            "name": "Sjogren-Larsson's syndrome",
            "description": ""
        },
        {
            "id": "DOID:14501",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14501",
            "name": "fatty acid alcohol oxidoreductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "Sjogren-Larsson syndrome",
            "description": "SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity."
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "FAO deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "FALDH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "Sjogren-Larsson syndrome; SLS",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "Sjogren-Larsson's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "fatty alcohol:NAD+ oxidoreductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "Sjgren-Larsson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "fatty acid alcohol oxidoreductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "Sjogren Larsson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "FADH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "fatty aldehyde dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "ichthyosis, spastic neurologic disorder, and oligophrenia",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "Sjogren-Larsson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010031",
            "name": "SLS",
            "description": ""
        },
        {
            "id": "MIM:270200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/270200",
            "name": "Sjoegren-Larsson syndrome",
            "description": "Sjoegren-Larsson syndrome"
        }
    ]
}
