{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012719", 
            "name": "encephalopathy due to prosaposin deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012719", 
            "name": "combined Sap deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012719", 
            "name": "PSAPD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012719", 
            "name": "prosaposin deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012719", 
            "name": "combined prosaposin deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111330", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111330", 
            "name": "PSAPD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111330", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111330", 
            "name": "combined SAP deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111330", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111330", 
            "name": "encephalopathy due to prosaposin deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111330", 
        "description": "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111330", 
        "name": "combined saposin deficiency"
    }, 
    "evidence": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012719", 
            "id": "0012719", 
            "database": "MONDO"
        }, 
        {
            "url": "https://www.omim.org/entry/611721", 
            "id": "611721", 
            "database": "MIM"
        }
    ]
}