{
    "disease_id": "DOID:10582",
    "recommended_name": {
        "id": "DOID:10582",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:10582",
        "name": "Refsum disease",
        "description": ""
    },
    "synonyms": [
        {
            "id": "DOID:10582",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10582",
            "name": "HMSN type IV",
            "description": ""
        },
        {
            "id": "DOID:10582",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10582",
            "name": "HSMN IV",
            "description": ""
        },
        {
            "id": "DOID:10582",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10582",
            "name": "Heredopathia atactica polyneuritiformis",
            "description": ""
        },
        {
            "id": "DOID:10582",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10582",
            "name": "Refsum's disease",
            "description": ""
        },
        {
            "id": "MONDO:0009959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009959",
            "name": "peroxisome biogenesis disorder type 3B",
            "description": "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation."
        },
        {
            "id": "MONDO:0009959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009959",
            "name": "infantile phytanic acid storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0009959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009959",
            "name": "infantile Refsum disease",
            "description": ""
        },
        {
            "id": "MONDO:0009959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009959",
            "name": "PBD3B",
            "description": ""
        },
        {
            "id": "MONDO:0009959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009959",
            "name": "peroxisome biogenesis disorder type 3B",
            "description": ""
        },
        {
            "id": "MONDO:0009959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009959",
            "name": "peroxisome biogenesis disorder 3B; PBD3B",
            "description": ""
        },
        {
            "id": "MONDO:0009959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009959",
            "name": "peroxisome biogenesis disorder 3B",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "adult Refsum disease",
            "description": "Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa (see this term) and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues."
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "HMSN type IV",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "classic Refsum disease",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "phytanic-CoA hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "Heredopathia atactica polyneuritiformis",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "Refsum's disease",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "Refsum disease, adult, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "Refsum disease, classic",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "hereditary motor and sensory neuropathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "hereditary sensory and motor neuropathy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "HMSN 4",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "hereditary motor and sensory neuropathy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "disorder of cornification 11 (phytanic acid type)",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "phytanic acid oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "HSMN IV",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "hypertrophic neuropathy of Refsum",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "Refsum disease",
            "description": ""
        },
        {
            "id": "MONDO:0009958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009958",
            "name": "doc 11 (phytanic acid type)",
            "description": ""
        },
        {
            "id": "MIM:266510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266510",
            "name": "Peroxisome biogenesis disorder 3B",
            "description": "Peroxisome biogenesis disorder 3B"
        },
        {
            "id": "MIM:266500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266500",
            "name": "Refsum disease",
            "description": "Refsum disease"
        }
    ]
}