{
    "disease_id": "DOID:0050464",
    "recommended_name": {
        "id": "DOID:0050464",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050464",
        "name": "Farber lipogranulomatosis",
        "description": "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition."
    },
    "synonyms": [
        {
            "id": "DOID:0050464",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050464",
            "name": "Farber disease",
            "description": ""
        },
        {
            "id": "DOID:0050464",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050464",
            "name": "N-laurylsphingosine deacylase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050464",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050464",
            "name": "acid ceramidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "Farber lipogranulomatosis",
            "description": "Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement."
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "Farber's disease",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "N-Laurylsphingosine deacylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "FRBRL",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "Farber lipogranulomatosis; FRBRL",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "AC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "Farber disease",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "acid ceramidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "N-LAURYLSPHINGOSINE deacylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "Farber lipogranulomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0009218",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009218",
            "name": "ceramidase deficiency",
            "description": ""
        },
        {
            "id": "MIM:228000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228000",
            "name": "Farber lipogranulomatosis",
            "description": "Farber lipogranulomatosis"
        }
    ]
}