{
    "disease_id": "DOID:0110806",
    "recommended_name": {
        "id": "DOID:0110806",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110806",
        "name": "hereditary spastic paraplegia 54",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110806",
            "name": "SPG54",
            "description": ""
        },
        {
            "id": "DOID:0110806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110806",
            "name": "autosomal recessive spastic paraplegia 54",
            "description": ""
        },
        {
            "id": "DOID:0110806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110806",
            "name": "autosomal recessive spastic paraplegia type 54",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "hereditary spastic paraplegia 54",
            "description": "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2."
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "DDHD2 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "SPG54",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "autosomal recessive spastic paraplegia type 54",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "hereditary spastic paraplegia type 54",
            "description": ""
        },
        {
            "id": "MONDO:0014018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "name": "spastic paraplegia 54, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615033",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615033",
            "name": "Spastic paraplegia 54, autosomal recessive",
            "description": "Spastic paraplegia 54, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110806"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110806",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110806",
            "categories": []
        },
        {
            "id": "MONDO:0014018",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014018",
            "categories": []
        },
        {
            "id": "MIM:615033",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615033",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80Y98-1",
            "uniprot_ac": "Q80Y98",
            "uniprot_id": "DDHD2_MOUSE",
            "refseq_ac": "NP_082378",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triacylglycerol hydrolase DDHD2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "DDHD domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "SAM, WWE and DDHD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TAG hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Triglyceride hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "Triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol hydrolase DDHD2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "triglyceride hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "triglyceride lipase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddhd2",
                    "type": "recommended"
                },
                {
                    "name": "2010305K11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ddhd2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0725",
                    "type": "synonym"
                },
                {
                    "name": "SAMWD1",
                    "type": "synonym"
                },
                {
                    "name": "Samwd1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0725",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Y98-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80YA3-1",
            "uniprot_ac": "Q80YA3",
            "uniprot_id": "DDHD1_MOUSE",
            "refseq_ac": "NP_001034195",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipase DDHD1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.111",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.118",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.32",
                    "type": "synonym"
                },
                {
                    "name": "DDHD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PA-PLA1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidic acid-preferring phospholipase A1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipid sn-1 acylhydrolase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidic acid-preferring phospholipase A1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid sn-1 acylhydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddhd1",
                    "type": "recommended"
                },
                {
                    "name": "Ddhd1",
                    "type": "synonym"
                },
                {
                    "name": "Mir5131",
                    "type": "synonym"
                },
                {
                    "name": "PA-PLA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80YA3-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NZC7-1",
            "uniprot_ac": "Q6NZC7",
            "uniprot_id": "S23IP_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SEC23-interacting protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec23ip",
                    "type": "recommended"
                }
            ],
            "record_id": "Q6NZC7-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94830-1",
            "uniprot_ac": "O94830",
            "uniprot_id": "DDHD2_HUMAN",
            "refseq_ac": "NP_001157704",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triacylglycerol hydrolase DDHD2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "DDHD domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0725p",
                    "type": "synonym"
                },
                {
                    "name": "PA-PLA1 like",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "SAM, WWE and DDHD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TAG hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Triglyceride hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "Triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "intracellular phospholipase A1gamma",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol hydrolase DDHD2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "triglyceride hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "triglyceride lipase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDHD2",
                    "type": "recommended"
                },
                {
                    "name": "DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0725",
                    "type": "synonym"
                },
                {
                    "name": "SAMWD1",
                    "type": "synonym"
                },
                {
                    "name": "SPG54",
                    "type": "synonym"
                },
                {
                    "name": "iPLA(1)gamma",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1A",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1gamma",
                    "type": "synonym"
                },
                {
                    "name": "p125B",
                    "type": "synonym"
                }
            ],
            "record_id": "O94830-1",
            "evidence": [
                {
                    "id": "615033",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615033"
                },
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12204-1",
            "uniprot_ac": "Q12204",
            "uniprot_id": "YOR22_YEAST",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable phospholipase YOR022C, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OR26.12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12204-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJ91-1",
            "uniprot_ac": "D3ZJ91",
            "uniprot_id": "D3ZJ91_RAT",
            "refseq_ac": "NP_001305345",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DDHD domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddhd2",
                    "type": "recommended"
                },
                {
                    "name": "Ddhd2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZJ91-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8Q8-1",
            "uniprot_ac": "G3V8Q8",
            "uniprot_id": "G3V8Q8_RAT",
            "refseq_ac": "NP_001128331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SEC23-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "SEC23-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec23ip",
                    "type": "recommended"
                },
                {
                    "name": "Sec23ip",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V8Q8-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZSB2-1",
            "uniprot_ac": "A0A8I5ZSB2",
            "uniprot_id": "A0A8I5ZSB2_RAT",
            "refseq_ac": "NP_001418335",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DDHD domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddhd1",
                    "type": "recommended"
                },
                {
                    "name": "Ddhd1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZSB2-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLS7-1",
            "uniprot_ac": "Q9VLS7",
            "uniprot_id": "Q9VLS7_DROME",
            "refseq_ac": "NP_609185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.1.1.32",
                    "type": "synonym"
                },
                {
                    "name": "CG8552-PA",
                    "type": "synonym"
                },
                {
                    "name": "PAPLA1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidic acid phospholipase A1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Sec23-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidic acid phospholipase A1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidic acid phospholipase A1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAPLA1",
                    "type": "recommended"
                },
                {
                    "name": "CG14278",
                    "type": "synonym"
                },
                {
                    "name": "CG8552",
                    "type": "synonym"
                },
                {
                    "name": "DmTGL",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8552",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8552",
                    "type": "synonym"
                },
                {
                    "name": "PAPLA1",
                    "type": "synonym"
                },
                {
                    "name": "PAP",
                    "type": "synonym"
                },
                {
                    "name": "Sec23-IP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLS7-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6Y8-1",
            "uniprot_ac": "Q9Y6Y8",
            "uniprot_id": "S23IP_HUMAN",
            "refseq_ac": "NP_009121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SEC23-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "SEC23-interacting protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "intracellular phospholipase A1 beta",
                    "type": "synonym"
                },
                {
                    "name": "p125",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC23IP",
                    "type": "recommended"
                },
                {
                    "name": "MSTP053",
                    "type": "synonym"
                },
                {
                    "name": "P125A",
                    "type": "synonym"
                },
                {
                    "name": "P125",
                    "type": "synonym"
                },
                {
                    "name": "SEC23IP",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1A",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1beta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6Y8-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEL9-1",
            "uniprot_ac": "Q8NEL9",
            "uniprot_id": "DDHD1_HUMAN",
            "refseq_ac": "NP_001153619",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipase DDHD1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.111",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.118",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.32",
                    "type": "synonym"
                },
                {
                    "name": "DDHD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PA-PLA1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidic acid-preferring phospholipase A1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipid sn-1 acylhydrolase",
                    "type": "synonym"
                },
                {
                    "name": "intracellular phospholipase A1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidic acid-preferring phospholipase A1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidic acid-preferring phospholipase A1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid sn-1 acylhydrolase",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 28 (autosomal recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDHD1",
                    "type": "recommended"
                },
                {
                    "name": "DDHD1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1705",
                    "type": "synonym"
                },
                {
                    "name": "PA-PLA1",
                    "type": "synonym"
                },
                {
                    "name": "PAPLA1",
                    "type": "synonym"
                },
                {
                    "name": "SPG28",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1I",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEL9-1",
            "evidence": [
                {
                    "id": "0110806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110806"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110806"
}