{
    "disease_id": "DOID:0111330",
    "recommended_name": {
        "id": "DOID:0111330",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111330",
        "name": "combined saposin deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111330",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111330",
            "name": "PSAPD",
            "description": ""
        },
        {
            "id": "DOID:0111330",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111330",
            "name": "combined SAP deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111330",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111330",
            "name": "encephalopathy due to prosaposin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012719",
            "name": "encephalopathy due to prosaposin deficiency",
            "description": "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses."
        },
        {
            "id": "MONDO:0012719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012719",
            "name": "combined Sap deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012719",
            "name": "PSAPD",
            "description": ""
        },
        {
            "id": "MONDO:0012719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012719",
            "name": "combined SAP deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012719",
            "name": "combined saposin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012719",
            "name": "prosaposin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012719",
            "name": "combined prosaposin deficiency",
            "description": ""
        },
        {
            "id": "MIM:611721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611721",
            "name": "Combined saposin deficiency",
            "description": "Combined saposin deficiency"
        }
    ]
}