{
    "disease_id": "DOID:0050886",
    "recommended_name": {
        "id": "DOID:0050886",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050886",
        "name": "Troyer syndrome",
        "description": "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050886",
            "name": "childhood-onset spastic paraparesis with distal muscle wasting",
            "description": ""
        },
        {
            "id": "DOID:0050886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050886",
            "name": "SPG20",
            "description": ""
        },
        {
            "id": "DOID:0050886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050886",
            "name": "autosomal recessive spastic paraplegia 20",
            "description": ""
        },
        {
            "id": "DOID:0050886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050886",
            "name": "autosomal recessive spastic paraplegia Troyer type",
            "description": ""
        },
        {
            "id": "DOID:0050886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050886",
            "name": "autosomal recessive spastic paraplegia type 20",
            "description": ""
        },
        {
            "id": "DOID:0050886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050886",
            "name": "hereditary spastic paraplegia 20",
            "description": ""
        },
        {
            "id": "DOID:0050886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050886",
            "name": "spastic paraplegia 20",
            "description": ""
        },
        {
            "id": "DOID:0050886",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050886",
            "name": "spastic paraplegia type 20",
            "description": ""
        },
        {
            "id": "MONDO:0010156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "name": "Troyer syndrome",
            "description": "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin."
        },
        {
            "id": "MONDO:0010156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "name": "SPG20",
            "description": ""
        },
        {
            "id": "MONDO:0010156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "name": "Troyer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "name": "autosomal recessive spastic paraplegia type 20",
            "description": ""
        },
        {
            "id": "MONDO:0010156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "name": "childhood-onset spastic paraparesis-distal muscle wasting syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "name": "spastic paraplegia 20 (Troyer syndrome)",
            "description": ""
        },
        {
            "id": "MONDO:0010156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "name": "Cross-McKusick syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "name": "spastic paraplegia 20",
            "description": ""
        },
        {
            "id": "MONDO:0010156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "name": "spastic paraplegia 20, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:275900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/275900",
            "name": "Spastic paraplegia 20, autosomal recessive",
            "description": "Spastic paraplegia 20, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050886"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050886",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050886",
            "categories": []
        },
        {
            "id": "MONDO:0010156",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010156",
            "categories": []
        },
        {
            "id": "MIM:275900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/275900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R1X6-1",
            "uniprot_ac": "Q8R1X6",
            "uniprot_id": "SPART_MOUSE",
            "refseq_ac": "NP_001138459",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spartin",
                    "type": "recommended"
                },
                {
                    "name": "spartin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 20, spartin (Troyer syndrome) homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spart",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0610",
                    "type": "synonym"
                },
                {
                    "name": "Spart",
                    "type": "synonym"
                },
                {
                    "name": "Spg20",
                    "type": "synonym"
                },
                {
                    "name": "TAHCCP1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0610",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1X6-1",
            "evidence": [
                {
                    "id": "0050886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N0X7-1",
            "uniprot_ac": "Q8N0X7",
            "uniprot_id": "SPART_HUMAN",
            "refseq_ac": "NP_001135766",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spartin",
                    "type": "recommended"
                },
                {
                    "name": "Spastic paraplegia 20 protein",
                    "type": "synonym"
                },
                {
                    "name": "Trans-activated by hepatitis C virus core protein 1",
                    "type": "synonym"
                },
                {
                    "name": "spartin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 20 (Troyer syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "trans-activated by hepatitis C virus core protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPART",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0610",
                    "type": "synonym"
                },
                {
                    "name": "SPART",
                    "type": "synonym"
                },
                {
                    "name": "SPG20",
                    "type": "synonym"
                },
                {
                    "name": "TAHCCP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N0X7-1",
            "evidence": [
                {
                    "id": "275900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/275900"
                },
                {
                    "id": "0050886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PT90-1",
            "uniprot_ac": "E9PT90",
            "uniprot_id": "E9PT90_RAT",
            "refseq_ac": "XP_006232428",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spartin",
                    "type": "recommended"
                },
                {
                    "name": "spartin isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spart",
                    "type": "recommended"
                },
                {
                    "name": "Spart",
                    "type": "synonym"
                },
                {
                    "name": "Spg20",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PT90-1",
            "evidence": [
                {
                    "id": "0050886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050886"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN45-1",
            "uniprot_ac": "Q9VN45",
            "uniprot_id": "SPART_DROME",
            "refseq_ac": "NP_001246910",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein spartin",
                    "type": "recommended"
                },
                {
                    "name": "CG12001-PB",
                    "type": "synonym"
                },
                {
                    "name": "spartin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "spartin-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spartin",
                    "type": "recommended"
                },
                {
                    "name": "CG12001",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12001",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12001",
                    "type": "synonym"
                },
                {
                    "name": "Spartin",
                    "type": "synonym"
                },
                {
                    "name": "dSp",
                    "type": "synonym"
                },
                {
                    "name": "spartin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN45-1",
            "evidence": [
                {
                    "id": "0050886",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050886"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050886"
}