{
    "disease_id": "DOID:0110794",
    "recommended_name": {
        "id": "DOID:0110794",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110794",
        "name": "hereditary spastic paraplegia 42",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31."
    },
    "synonyms": [
        {
            "id": "DOID:0110794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110794",
            "name": "SPG42",
            "description": ""
        },
        {
            "id": "DOID:0110794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110794",
            "name": "autosomal dominant spastic paraplegia 42",
            "description": ""
        },
        {
            "id": "DOID:0110794",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110794",
            "name": "autosomal dominant spastic paraplegia type 42",
            "description": ""
        },
        {
            "id": "MONDO:0012928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012928",
            "name": "hereditary spastic paraplegia 42",
            "description": "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging."
        },
        {
            "id": "MONDO:0012928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012928",
            "name": "SLC33A1 autosomal dominant pure spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0012928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012928",
            "name": "SPG42",
            "description": ""
        },
        {
            "id": "MONDO:0012928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012928",
            "name": "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1",
            "description": ""
        },
        {
            "id": "MONDO:0012928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012928",
            "name": "autosomal dominant spastic paraplegia type 42",
            "description": ""
        },
        {
            "id": "MONDO:0012928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012928",
            "name": "hereditary spastic paraplegia type 42",
            "description": ""
        },
        {
            "id": "MONDO:0012928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012928",
            "name": "spastic paraplegia 42, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:612539",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612539",
            "name": "Spastic paraplegia 42, autosomal dominant",
            "description": "Spastic paraplegia 42, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110794"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110794",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110794",
            "categories": []
        },
        {
            "id": "MONDO:0012928",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012928",
            "categories": []
        },
        {
            "id": "MIM:612539",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612539",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99J27-1",
            "uniprot_ac": "Q99J27",
            "uniprot_id": "ACATN_MOUSE",
            "refseq_ac": "NP_001258964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetyl-coenzyme A transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "AT-1",
                    "type": "synonym"
                },
                {
                    "name": "Acetyl-CoA transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 33 member 1",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-CoA transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-coenzyme A transporter 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-coenzyme A transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 33 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc33a1",
                    "type": "recommended"
                },
                {
                    "name": "Acatn",
                    "type": "synonym"
                },
                {
                    "name": "D630022N01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Slc33a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99J27-1",
            "evidence": [
                {
                    "id": "0110794",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110794"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00400-1",
            "uniprot_ac": "O00400",
            "uniprot_id": "ACATN_HUMAN",
            "refseq_ac": "NP_001177921",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetyl-coenzyme A transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "AT-1",
                    "type": "synonym"
                },
                {
                    "name": "Acetyl-CoA transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 33 member 1",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-coenzyme A transporter 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-coenzyme A transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 33 (acetyl-CoA transporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC33A1",
                    "type": "recommended"
                },
                {
                    "name": "ACATN",
                    "type": "synonym"
                },
                {
                    "name": "AT-1",
                    "type": "synonym"
                },
                {
                    "name": "AT1",
                    "type": "synonym"
                },
                {
                    "name": "CCHLND",
                    "type": "synonym"
                },
                {
                    "name": "HPBDS",
                    "type": "synonym"
                },
                {
                    "name": "SLC33A1",
                    "type": "synonym"
                },
                {
                    "name": "SPG42",
                    "type": "synonym"
                }
            ],
            "record_id": "O00400-1",
            "evidence": [
                {
                    "id": "612539",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612539"
                },
                {
                    "id": "0110794",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110794"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38318-1",
            "uniprot_ac": "P38318",
            "uniprot_id": "YB70_YEAST",
            "refseq_ac": "NP_009779",
            "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": "Uncharacterized membrane protein YBR220C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YBR1510",
                    "type": "synonym"
                }
            ],
            "record_id": "P38318-1",
            "evidence": [
                {
                    "id": "0110794",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110794"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38317-1",
            "uniprot_ac": "P38317",
            "uniprot_id": "YB69_YEAST",
            "refseq_ac": "NP_009778",
            "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": "Uncharacterized protein YBR219C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YBR1509",
                    "type": "synonym"
                }
            ],
            "record_id": "P38317-1",
            "evidence": [
                {
                    "id": "0110794",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110794"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYY8-1",
            "uniprot_ac": "Q6AYY8",
            "uniprot_id": "ACATN_RAT",
            "refseq_ac": "NP_071588",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetyl-coenzyme A transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "AT-1",
                    "type": "synonym"
                },
                {
                    "name": "Acetyl-CoA transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 33 member 1",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-CoA transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-coenzyme A transporter 1-like",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-coenzyme A transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 33 (acetyl-CoA transporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc33a1",
                    "type": "recommended"
                },
                {
                    "name": "Acatn",
                    "type": "synonym"
                },
                {
                    "name": "Slc33a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYY8-1",
            "evidence": [
                {
                    "id": "0110794",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110794"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A4D6K3L8-1",
            "uniprot_ac": "A0A4D6K3L8",
            "uniprot_id": "A0A4D6K3L8_DROME",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetyl-coenzyme A transporter 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9706",
                    "type": "recommended"
                },
                {
                    "name": "CG9706",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9706",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A4D6K3L8-1",
            "evidence": [
                {
                    "id": "0110794",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110794"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110794"
}