{
    "disease_id": "DOID:0110790",
    "recommended_name": {
        "id": "DOID:0110790",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110790",
        "name": "hereditary spastic paraplegia 39",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110790",
            "name": "NTE-related motor neuron disorder",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110790",
            "name": "NTEMND",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110790",
            "name": "SPG39",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110790",
            "name": "spastic paraplegia due to neuropathy target esterase mutation",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110790",
            "name": "autosomal recessive spastic paraplegia 39",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110790",
            "name": "autosomal recessive spastic paraplegia type 39",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110790",
            "name": "spastic paraplegia due to NTE mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "hereditary spastic paraplegia 39",
            "description": "This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting."
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "NTE-related motor neuron disorder",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "NTEMND",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "PNPLA6 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "SPG39",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "autosomal recessive spastic paraplegia type 39",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "hereditary spastic paraplegia caused by mutation in PNPLA6",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "hereditary spastic paraplegia type 39",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "spastic paraplegia due to NTE mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "spastic paraplegia due to neuropathy target esterase mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "NTE related motor neuron disorder",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "spastic paraplegia 39",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "spastic paraplegia 39, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:612020",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612020",
            "name": "Spastic paraplegia 39, autosomal recessive",
            "description": "Spastic paraplegia 39, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110790"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110790",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110790",
            "categories": []
        },
        {
            "id": "MONDO:0012787",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "categories": []
        },
        {
            "id": "MIM:612020",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612020",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B6R2-1",
            "uniprot_ac": "A0A8M2B6R2",
            "uniprot_id": "A0A8M2B6R2_DANRE",
            "refseq_ac": "XP_005160109",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "lysophospholipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.5",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 6 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pnpla6",
                    "type": "recommended"
                },
                {
                    "name": "pnpla6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B6R2-1",
            "evidence": [
                {
                    "id": "0110790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TRM4-1",
            "uniprot_ac": "Q3TRM4",
            "uniprot_id": "PLPL6_MOUSE",
            "refseq_ac": "NP_001116290",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Patatin-like phospholipase domain-containing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.5",
                    "type": "synonym"
                },
                {
                    "name": "Neuropathy target esterase",
                    "type": "synonym"
                },
                {
                    "name": "Swiss-cheese",
                    "type": "synonym"
                },
                {
                    "name": "neuropathy target esterase",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnpla6",
                    "type": "recommended"
                },
                {
                    "name": "MSws",
                    "type": "synonym"
                },
                {
                    "name": "Nte",
                    "type": "synonym"
                },
                {
                    "name": "Pnpla6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TRM4-1",
            "evidence": [
                {
                    "id": "0110790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IY17-4",
            "uniprot_ac": "Q8IY17",
            "uniprot_id": "PLPL6_HUMAN",
            "refseq_ac": "NP_001159583",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Patatin-like phospholipase domain-containing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.5",
                    "type": "synonym"
                },
                {
                    "name": "Neuropathy target esterase",
                    "type": "synonym"
                },
                {
                    "name": "neuropathy target esterase",
                    "type": "synonym"
                },
                {
                    "name": "patatin like phospholipase domain containing 6",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 6 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNPLA6",
                    "type": "recommended"
                },
                {
                    "name": "BNHS",
                    "type": "synonym"
                },
                {
                    "name": "LNMS",
                    "type": "synonym"
                },
                {
                    "name": "NTEMND",
                    "type": "synonym"
                },
                {
                    "name": "NTE",
                    "type": "synonym"
                },
                {
                    "name": "OMCS",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA6",
                    "type": "synonym"
                },
                {
                    "name": "SPG39",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2delta",
                    "type": "synonym"
                },
                {
                    "name": "sws",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IY17-4",
            "evidence": [
                {
                    "id": "612020",
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                    "url": "https://www.omim.org/entry/612020"
                },
                {
                    "id": "0110790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04958-1",
            "uniprot_ac": "Q04958",
            "uniprot_id": "NTE1_YEAST",
            "refseq_ac": "NP_013652",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysophospholipase NTE1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.5",
                    "type": "synonym"
                },
                {
                    "name": "Intracellular phospholipase B",
                    "type": "synonym"
                },
                {
                    "name": "Neuropathy target esterase homolog",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NTE1",
                    "type": "recommended"
                },
                {
                    "name": "NTE1",
                    "type": "synonym"
                },
                {
                    "name": "YM9958.03C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04958-1",
            "evidence": [
                {
                    "id": "0110790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R715-1",
            "uniprot_ac": "M0R715",
            "uniprot_id": "M0R715_RAT",
            "refseq_ac": "XP_008767229",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "lysophospholipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.5",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 6 isoform X6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnpla6",
                    "type": "recommended"
                },
                {
                    "name": "Pnpla6",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564611",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R715-1",
            "evidence": [
                {
                    "id": "0110790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9U969-1",
            "uniprot_ac": "Q9U969",
            "uniprot_id": "SWS_DROME",
            "refseq_ac": "NP_511075",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuropathy target esterase sws",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.5",
                    "type": "synonym"
                },
                {
                    "name": "CG2212-PA",
                    "type": "synonym"
                },
                {
                    "name": "DSWS",
                    "type": "synonym"
                },
                {
                    "name": "Swiss cheese",
                    "type": "synonym"
                },
                {
                    "name": "olfactory E",
                    "type": "synonym"
                },
                {
                    "name": "olfactory-E",
                    "type": "synonym"
                },
                {
                    "name": "swiss cheese, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "swiss cheese",
                    "type": "synonym"
                },
                {
                    "name": "swiss-cheese",
                    "type": "synonym"
                },
                {
                    "name": "swisscheese",
                    "type": "synonym"
                },
                {
                    "name": "sws-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sws",
                    "type": "recommended"
                },
                {
                    "name": "CG2212",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2212",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2212",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA6",
                    "type": "synonym"
                },
                {
                    "name": "SWS",
                    "type": "synonym"
                },
                {
                    "name": "Sws",
                    "type": "synonym"
                },
                {
                    "name": "olfE",
                    "type": "synonym"
                },
                {
                    "name": "sws",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9U969-1",
            "evidence": [
                {
                    "id": "0110790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110790"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110790"
}