{
    "disease_id": "DOID:3343", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "sialidosis type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "sialidosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "neuraminidase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "sialidosis, type II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "Neu1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "neuraminidase 1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "mucolipidosis I"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "glycoprotein neuraminidase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "sialidosis type II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "mucolipidosis type I"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "myoclonus--cherry Red spot syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "sialidase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "mucolipidosis type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "Neug deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "cherry Red spot--myoclonus syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "ML1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "ML 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "sialidosis, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "dysmorphic sialidosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "NEU1 sialidosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "Neu deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "sialidosis caused by mutation in NEU1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "sialidosis, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "mucolipidosis 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "lipomucopolysaccharidosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "NEU 1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009738", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009738", 
            "name": "infantile dysmorphic sialidosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:3343", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:3343", 
            "name": "Mucolipidosis type I"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:3343", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:3343", 
            "name": "sialidosis"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:3343", 
        "description": "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).", 
        "resource": "Disease Ontology", 
        "id": "DOID:3343", 
        "name": "glycoproteinosis"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/3343#disease-associations", 
            "id": "3343", 
            "database": "Alliance of Genome Resources"
        }
    ]
}