{
    "disease_id": "DOID:0111330",
    "recommended_name": {
        "id": "DOID:0111330",
        "resource": "Disease Ontology",
        "url": "https://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 compound heterozygous mutation in PSAP on 10q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111330",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111330",
            "name": "PSAPD",
            "description": ""
        },
        {
            "id": "DOID:0111330",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111330",
            "name": "combined SAP deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111330",
            "resource": "Disease Ontology",
            "url": "https://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": "combined PSAP 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 prosaposin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012719",
            "name": "encephalopathy due to prosaposin 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": "MIM:611721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611721",
            "name": "Combined saposin deficiency",
            "description": "Combined saposin deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111330"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111330",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111330",
            "categories": []
        },
        {
            "id": "MONDO:0012719",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012719",
            "categories": []
        },
        {
            "id": "MIM:611721",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611721",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FCT1-1",
            "uniprot_ac": "E7FCT1",
            "uniprot_id": "E7FCT1_DANRE",
            "refseq_ac": "NP_571958",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prosaposin",
                    "type": "recommended"
                },
                {
                    "name": "prosaposin isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "psap",
                    "type": "recommended"
                },
                {
                    "name": "cb759",
                    "type": "synonym"
                },
                {
                    "name": "psap",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa14a06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb36e02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb58g07",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FCT1-1",
            "evidence": [
                {
                    "id": "0111330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61207-1",
            "uniprot_ac": "Q61207",
            "uniprot_id": "SAP_MOUSE",
            "refseq_ac": "NP_001139592",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prosaposin",
                    "type": "recommended"
                },
                {
                    "name": "SGP-1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfated glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "prosaposin isoform A precursor",
                    "type": "synonym"
                },
                {
                    "name": "snoRNA MBII-198",
                    "type": "synonym"
                },
                {
                    "name": "sulfated glycoprotein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psap",
                    "type": "recommended"
                },
                {
                    "name": "Psap",
                    "type": "synonym"
                },
                {
                    "name": "SGP-1",
                    "type": "synonym"
                },
                {
                    "name": "Sgp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61207-1",
            "evidence": [
                {
                    "id": "0111330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C1C1-1",
            "uniprot_ac": "Q8C1C1",
            "uniprot_id": "SAPL1_MOUSE",
            "refseq_ac": "NP_780458",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proactivator polypeptide-like 1",
                    "type": "recommended"
                },
                {
                    "name": "proactivator polypeptide-like 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proactivator polypeptide-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psapl1",
                    "type": "recommended"
                },
                {
                    "name": "2310020A21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Psapl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C1C1-1",
            "evidence": [
                {
                    "id": "0111330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07602-1",
            "uniprot_ac": "P07602",
            "uniprot_id": "SAP_HUMAN",
            "refseq_ac": "NP_001035930",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prosaposin",
                    "type": "recommended"
                },
                {
                    "name": "A1 activator",
                    "type": "synonym"
                },
                {
                    "name": "CSAct",
                    "type": "synonym"
                },
                {
                    "name": "Cerebroside sulfate activator",
                    "type": "synonym"
                },
                {
                    "name": "Co-beta-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "Component C",
                    "type": "synonym"
                },
                {
                    "name": "Dispersin",
                    "type": "synonym"
                },
                {
                    "name": "Glucosylceramidase activator",
                    "type": "synonym"
                },
                {
                    "name": "Proactivator polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Protein A",
                    "type": "synonym"
                },
                {
                    "name": "Protein C",
                    "type": "synonym"
                },
                {
                    "name": "SAP-1",
                    "type": "synonym"
                },
                {
                    "name": "SAP-2",
                    "type": "synonym"
                },
                {
                    "name": "Sphingolipid activator protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingolipid activator protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Sulfatide/GM1 activator",
                    "type": "synonym"
                },
                {
                    "name": "precursor of saposins",
                    "type": "synonym"
                },
                {
                    "name": "proactivator polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "prosaposin isoform b preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "saposin-A",
                    "type": "synonym"
                },
                {
                    "name": "saposin-B",
                    "type": "synonym"
                },
                {
                    "name": "saposin-C",
                    "type": "synonym"
                },
                {
                    "name": "saposin-D",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid activator protein-1",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid activator protein-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSAP",
                    "type": "recommended"
                },
                {
                    "name": "GLBA",
                    "type": "synonym"
                },
                {
                    "name": "PARK24",
                    "type": "synonym"
                },
                {
                    "name": "PSAPD",
                    "type": "synonym"
                },
                {
                    "name": "PSAP",
                    "type": "synonym"
                },
                {
                    "name": "SAP1",
                    "type": "synonym"
                },
                {
                    "name": "SAP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P07602-1",
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                {
                    "id": "0012719",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012719"
                },
                {
                    "id": "611721",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611721"
                },
                {
                    "id": "0111330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10960-1",
            "uniprot_ac": "P10960",
            "uniprot_id": "SAP_RAT",
            "refseq_ac": "NP_001177165",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prosaposin",
                    "type": "recommended"
                },
                {
                    "name": "SGP-1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfated glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "prosaposin (sulfated glycoprotein, sphingolipid hydrolase activator)",
                    "type": "synonym"
                },
                {
                    "name": "prosaposin isoform B preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "sulfated glycoprotein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psap",
                    "type": "recommended"
                },
                {
                    "name": "Psap",
                    "type": "synonym"
                },
                {
                    "name": "SGP-1",
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                },
                {
                    "name": "SGP1A",
                    "type": "synonym"
                },
                {
                    "name": "Sgp1",
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                }
            ],
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                {
                    "id": "0111330",
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                }
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        {
            "uniprot_canonical_ac": "M0R3X1-1",
            "uniprot_ac": "M0R3X1",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Proactivator polypeptide-like 1",
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                },
                {
                    "name": "Prosaposin (sphingolipid activator protein-1)",
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                    "name": "proactivator polypeptide-like 1 precursor",
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                {
                    "name": "proactivator polypeptide-like 1",
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            ],
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                {
                    "name": "Psapl1",
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                {
                    "name": "RGD1307368",
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            ],
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                {
                    "id": "0111330",
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        },
        {
            "uniprot_canonical_ac": "Q9Y125-1",
            "uniprot_ac": "Q9Y125",
            "uniprot_id": "Q9Y125_DROME",
            "refseq_ac": "NP_524597",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "110kD protein",
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                },
                {
                    "name": "CG12070-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sap-r-PA",
                    "type": "synonym"
                },
                {
                    "name": "Saposin-related, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Saposin-r",
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                },
                {
                    "name": "drosophila aggregation promoting activity",
                    "type": "synonym"
                },
                {
                    "name": "saposin-related",
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                }
            ],
            "gene_names": [
                {
                    "name": "Sap-r",
                    "type": "recommended"
                },
                {
                    "name": "Apa",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH08312",
                    "type": "synonym"
                },
                {
                    "name": "CG12070",
                    "type": "synonym"
                },
                {
                    "name": "DAPA",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12070",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12070",
                    "type": "synonym"
                },
                {
                    "name": "Ov9",
                    "type": "synonym"
                },
                {
                    "name": "P110",
                    "type": "synonym"
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                {
                    "name": "Sap-R",
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                },
                {
                    "name": "Sap-r",
                    "type": "synonym"
                },
                {
                    "name": "Sapr",
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                },
                {
                    "name": "anon-EST:ParkEST270",
                    "type": "synonym"
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                {
                    "name": "sap-r",
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                }
            ],
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                    "id": "0111330",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11678-1",
            "uniprot_ac": "P11678",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Eosinophil peroxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.7",
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                },
                {
                    "name": "EPO",
                    "type": "synonym"
                },
                {
                    "name": "eosinophil peroxidase preproprotein",
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            ],
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                {
                    "name": "EPX",
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                    "name": "EPER",
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                    "name": "EPO",
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                    "name": "EPP",
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                {
                    "name": "EPX-PEN",
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                {
                    "name": "EPXD",
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                {
                    "name": "EPX",
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                }
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                    "id": "0111330",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07988-1",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pulmonary surfactant-associated protein B",
                    "type": "recommended"
                },
                {
                    "name": "18 kDa pulmonary-surfactant protein",
                    "type": "synonym"
                },
                {
                    "name": "6 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Pulmonary surfactant-associated proteolipid SPL(Phe)",
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                },
                {
                    "name": "SP-B",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated protein B isoform 1 precursor",
                    "type": "synonym"
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                {
                    "name": "pulmonary surfactant-associated proteolipid SPL(Phe)",
                    "type": "synonym"
                }
            ],
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                    "name": "SFTPB",
                    "type": "recommended"
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                {
                    "name": "PSP-B",
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                },
                {
                    "name": "SFTB3",
                    "type": "synonym"
                },
                {
                    "name": "SFTP3",
                    "type": "synonym"
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                {
                    "name": "SFTPB",
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                },
                {
                    "name": "SMDP1",
                    "type": "synonym"
                },
                {
                    "name": "SP-B",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NUJ1-1",
            "uniprot_ac": "Q6NUJ1",
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            "refseq_ac": "NP_001078851",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proactivator polypeptide-like 1",
                    "type": "recommended"
                },
                {
                    "name": "proactivator polypeptide-like 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "proactivator polypeptide-like 1",
                    "type": "synonym"
                },
                {
                    "name": "prosaposin-like protein 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "PSAPL1",
                    "type": "recommended"
                },
                {
                    "name": "PSAPL1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0111330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111330"
}