{
    "disease_id": "DOID:0110824",
    "recommended_name": {
        "id": "DOID:0110824",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110824",
        "name": "hereditary spastic paraplegia 9A",
        "description": "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110824",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110824",
            "name": "cataracts with motor neuronopathy, short stature and skeletal abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0110824",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110824",
            "name": "AD-SPG9A",
            "description": ""
        },
        {
            "id": "DOID:0110824",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110824",
            "name": "SPG9A",
            "description": ""
        },
        {
            "id": "DOID:0110824",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110824",
            "name": "autosomal dominant spastic paraplegia 9A",
            "description": ""
        },
        {
            "id": "DOID:0110824",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110824",
            "name": "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110824",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110824",
            "name": "Cataracts motor neuropathy-short stature-skeletal anomalies syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110824",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110824",
            "name": "spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux",
            "description": ""
        },
        {
            "id": "DOID:0110824",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110824",
            "name": "autosomal dominant complex spastic paraplegia type 9A",
            "description": ""
        },
        {
            "id": "MONDO:0011006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011006",
            "name": "hereditary spastic paraplegia 9A",
            "description": ""
        },
        {
            "id": "MONDO:0011006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011006",
            "name": "AD-SPG9A",
            "description": ""
        },
        {
            "id": "MONDO:0011006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011006",
            "name": "SPG9A",
            "description": ""
        },
        {
            "id": "MONDO:0011006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011006",
            "name": "hereditary spastic paraplegia type 9A",
            "description": ""
        },
        {
            "id": "MONDO:0011006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011006",
            "name": "spastic paraplegia 9A, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:601162",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601162",
            "name": "Spastic paraplegia 9A, autosomal dominant",
            "description": "Spastic paraplegia 9A, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110824"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110824",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110824",
            "categories": []
        },
        {
            "id": "MONDO:0011006",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011006",
            "categories": []
        },
        {
            "id": "MIM:601162",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601162",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U570-1",
            "uniprot_ac": "A0AB32U570",
            "uniprot_id": "A0AB32U570_DANRE",
            "refseq_ac": "XP_068080700",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-1-pyrroline-5-carboxylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-glutamyl kinase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-5-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate synthase isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aldh18a1",
                    "type": "recommended"
                },
                {
                    "name": "aldh18a1",
                    "type": "synonym"
                },
                {
                    "name": "cb842",
                    "type": "synonym"
                },
                {
                    "name": "cb899",
                    "type": "synonym"
                },
                {
                    "name": "pycs",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb881",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa91f10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi05f11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi17d12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U570-1",
            "evidence": [
                {
                    "id": "0110824",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110824"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z110-1",
            "uniprot_ac": "Q9Z110",
            "uniprot_id": "P5CS_MOUSE",
            "refseq_ac": "NP_062672",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-1-pyrroline-5-carboxylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "Aldehyde dehydrogenase family 18 member A1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyl kinase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-5-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P5CS",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 18 member A1",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate synthase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate synthase",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh18a1",
                    "type": "recommended"
                },
                {
                    "name": "2810433K04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Aldh18a1",
                    "type": "synonym"
                },
                {
                    "name": "P5cs",
                    "type": "synonym"
                },
                {
                    "name": "Pycs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z110-1",
            "evidence": [
                {
                    "id": "0110824",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110824"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54886-1",
            "uniprot_ac": "P54886",
            "uniprot_id": "P5CS_HUMAN",
            "refseq_ac": "NP_001017423",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-1-pyrroline-5-carboxylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "Aldehyde dehydrogenase family 18 member A1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyl kinase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-5-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P5CS",
                    "type": "synonym"
                },
                {
                    "name": "Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux)",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde dehydrogenase family 18 member A1",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate synthase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate synthase",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "delta1-pyrroline-5-carboxlate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 9 (autosomal dominant)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALDH18A1",
                    "type": "recommended"
                },
                {
                    "name": "ADCL3",
                    "type": "synonym"
                },
                {
                    "name": "ALDH18A1",
                    "type": "synonym"
                },
                {
                    "name": "ARCL3A",
                    "type": "synonym"
                },
                {
                    "name": "GSAS",
                    "type": "synonym"
                },
                {
                    "name": "P5CS",
                    "type": "synonym"
                },
                {
                    "name": "PYCS",
                    "type": "synonym"
                },
                {
                    "name": "SPG9A",
                    "type": "synonym"
                },
                {
                    "name": "SPG9B",
                    "type": "synonym"
                },
                {
                    "name": "SPG9",
                    "type": "synonym"
                }
            ],
            "record_id": "P54886-1",
            "evidence": [
                {
                    "id": "601162",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601162"
                },
                {
                    "id": "0110824",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110824"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54885-1",
            "uniprot_ac": "P54885",
            "uniprot_id": "PROA_YEAST",
            "refseq_ac": "NP_014968",
            "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": "Gamma-glutamyl phosphate reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.41",
                    "type": "synonym"
                },
                {
                    "name": "GPR",
                    "type": "synonym"
                },
                {
                    "name": "GSA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-5-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-5-semialdehyde dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRO2",
                    "type": "recommended"
                },
                {
                    "name": "O6155",
                    "type": "synonym"
                },
                {
                    "name": "PRO2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54885-1",
            "evidence": [
                {
                    "id": "0110824",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110824"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AAN3-1",
            "uniprot_ac": "A0A8I6AAN3",
            "uniprot_id": "A0A8I6AAN3_RAT",
            "refseq_ac": "NP_001101994",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-1-pyrroline-5-carboxylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-glutamyl kinase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-5-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate synthase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "delta-1-pyrroline-5-carboxylate synthase",
                    "type": "synonym"
                },
                {
                    "name": "pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aldh18a1",
                    "type": "recommended"
                },
                {
                    "name": "Aldh18a1",
                    "type": "synonym"
                },
                {
                    "name": "Pycs",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AAN3-1",
            "evidence": [
                {
                    "id": "0110824",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110824"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNW6-1",
            "uniprot_ac": "Q9VNW6",
            "uniprot_id": "Q9VNW6_DROME",
            "refseq_ac": "NP_001246877",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-1-pyrroline-5-carboxylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "CG7470-PB",
                    "type": "synonym"
                },
                {
                    "name": "Delta[1]-pyrroline-5-carboxylate synthase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyl kinase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-5-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-gamma-semialdehyde dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "P5CS-PB",
                    "type": "synonym"
                },
                {
                    "name": "glutamate 5-kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P5CS",
                    "type": "recommended"
                },
                {
                    "name": "CG7470",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7470",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7470",
                    "type": "synonym"
                },
                {
                    "name": "P5CS",
                    "type": "synonym"
                },
                {
                    "name": "dP5CS",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110824",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110824"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110824"
}