{
    "disease_id": "DOID:10581",
    "recommended_name": {
        "id": "DOID:10581",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:10581",
        "name": "metachromatic leukodystrophy",
        "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system."
    },
    "synonyms": [
        {
            "id": "DOID:10581",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10581",
            "name": "MLD",
            "description": ""
        },
        {
            "id": "DOID:10581",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10581",
            "name": "Scholz cerebral sclerosis",
            "description": ""
        },
        {
            "id": "DOID:10581",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10581",
            "name": "arylsulfatase A deficiency",
            "description": ""
        },
        {
            "id": "DOID:10581",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10581",
            "name": "deficiency of cerebroside-sulfatase",
            "description": ""
        },
        {
            "id": "DOID:10581",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10581",
            "name": "sulfatide lipoidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "metachromatic leukodystrophy, juvenile form",
            "description": "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes."
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "MLD, juvenile form",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "arylsulfatase A deficiency, juvenile form",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "metachromatic leukodystrophy, juvenile form",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "ARSA deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "MLD",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "Mld",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "arylsulfatase A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "cerebral sclerosis diffuse metachromatic form",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "cerebral sclerosis, diffuse, metachromatic form",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "cerebroside sulfatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "leukodystrophy metachromatic",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "metachromatic leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "metachromatic leukodystrophy, adult",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "metachromatic leukodystrophy, juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "metachromatic leukodystrophy, late infantile",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "metachromatic leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "pseudoarylsulfatase A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009591",
            "name": "sulfatide lipidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009590",
            "name": "metachromatic leukodystrophy due to saposin B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009590",
            "name": "metachromatic leukodystrophy due to sap-B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009590",
            "name": "metachromatic leukodystrophy due to saposin b deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009590",
            "name": "metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009590",
            "name": "saposin B deficiency",
            "description": ""
        },
        {
            "id": "MIM:250100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/250100",
            "name": "Metachromatic leukodystrophy",
            "description": "Metachromatic leukodystrophy"
        },
        {
            "id": "MIM:249900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/249900",
            "name": "Metachromatic leukodystrophy due to saposin B deficiency",
            "description": "Metachromatic leukodystrophy due to saposin B deficiency"
        }
    ]
}