{
    "disease_id": "DOID:0070460",
    "recommended_name": {
        "id": "DOID:0070460",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070460",
        "name": "hereditary spastic paraplegia 90B",
        "description": "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070460",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070460",
            "name": "SPG90B",
            "description": ""
        },
        {
            "id": "DOID:0070460",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070460",
            "name": "autosomal recessive spastic paraplegia 90B",
            "description": ""
        },
        {
            "id": "MONDO:0957309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957309",
            "name": "spastic paraplegia 90B, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620417",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620417",
            "name": "Spastic paraplegia 90B, autosomal recessive",
            "description": "Spastic paraplegia 90B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070460"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070460",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070460",
            "categories": []
        },
        {
            "id": "MONDO:0957309",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957309",
            "categories": []
        },
        {
            "id": "MIM:620417",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620417",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5BJC1-1",
            "uniprot_ac": "Q5BJC1",
            "uniprot_id": "SPTSA_DANRE",
            "refseq_ac": "NP_001087196",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine palmitoyltransferase small subunit A",
                    "type": "recommended"
                },
                {
                    "name": "Small subunit of serine palmitoyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase small subunit A",
                    "type": "synonym"
                },
                {
                    "name": "small subunit of serine palmitoyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "ssSPTa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sptssa",
                    "type": "recommended"
                },
                {
                    "name": "sptssa",
                    "type": "synonym"
                },
                {
                    "name": "ssspta",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb60h11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112487",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BJC1-1",
            "evidence": [
                {
                    "id": "0070460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R207-1",
            "uniprot_ac": "Q8R207",
            "uniprot_id": "SPTSA_MOUSE",
            "refseq_ac": "NP_598815",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine palmitoyltransferase small subunit A",
                    "type": "recommended"
                },
                {
                    "name": "Small subunit of serine palmitoyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase small subunit A",
                    "type": "synonym"
                },
                {
                    "name": "small subunit of serine palmitoyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "ssSPTa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptssa",
                    "type": "recommended"
                },
                {
                    "name": "1110002B05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sptssa",
                    "type": "synonym"
                },
                {
                    "name": "Ssspta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R207-1",
            "evidence": [
                {
                    "id": "0070460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1W2P738-1",
            "uniprot_ac": "A0A1W2P738",
            "uniprot_id": "A0A1W2P738_MOUSE",
            "refseq_ac": "XP_036013603",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Predicted gene 6993",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase small subunit A-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gm6993",
                    "type": "recommended"
                },
                {
                    "name": "Gm6993",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1W2P738-1",
            "evidence": [
                {
                    "id": "0070460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969W0-1",
            "uniprot_ac": "Q969W0",
            "uniprot_id": "SPTSA_HUMAN",
            "refseq_ac": "NP_612145",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine palmitoyltransferase small subunit A",
                    "type": "recommended"
                },
                {
                    "name": "Small subunit of serine palmitoyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase small subunit A",
                    "type": "synonym"
                },
                {
                    "name": "small subunit of serine palmitoyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "ssSPTa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPTSSA",
                    "type": "recommended"
                },
                {
                    "name": "C14orf147",
                    "type": "synonym"
                },
                {
                    "name": "SPG90A",
                    "type": "synonym"
                },
                {
                    "name": "SPG90B",
                    "type": "synonym"
                },
                {
                    "name": "SPTSSA",
                    "type": "synonym"
                },
                {
                    "name": "SSSPTA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969W0-1",
            "evidence": [
                {
                    "id": "620417",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620417"
                },
                {
                    "id": "0070460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G019-1",
            "uniprot_ac": "Q4G019",
            "uniprot_id": "SPTSA_RAT",
            "refseq_ac": "NP_001041208",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine palmitoyltransferase small subunit A",
                    "type": "recommended"
                },
                {
                    "name": "Small subunit of serine palmitoyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "serine palmitoyltransferase small subunit A",
                    "type": "synonym"
                },
                {
                    "name": "small subunit of serine palmitoyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "ssSPTa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptssa",
                    "type": "recommended"
                },
                {
                    "name": "Sptssa",
                    "type": "synonym"
                },
                {
                    "name": "Ssspta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G019-1",
            "evidence": [
                {
                    "id": "0070460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYH6-1",
            "uniprot_ac": "A8DYH6",
            "uniprot_id": "A8DYH6_DROME",
            "refseq_ac": "NP_001097358",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine palmitoyltransferase small subunit B",
                    "type": "recommended"
                },
                {
                    "name": "CG34194-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein ADMP",
                    "type": "synonym"
                },
                {
                    "name": "Small subunit of serine palmitoyltransferase B",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG34194",
                    "type": "recommended"
                },
                {
                    "name": "CG34194",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34194",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34194",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYH6-1",
            "evidence": [
                {
                    "id": "0070460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070460"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070460"
}