{
    "disease_id": "DOID:0110774",
    "recommended_name": {
        "id": "DOID:0110774",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110774",
        "name": "hereditary spastic paraplegia 23",
        "description": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110774",
            "name": "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110774",
            "name": "Lison syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110774",
            "name": "SPG23",
            "description": ""
        },
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110774",
            "name": "spastic paraplegia 23",
            "description": ""
        },
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110774",
            "name": "spastic paraplegia with pigmentary abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "hereditary spastic paraplegia 23",
            "description": "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32."
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "DSTYK autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "Lison syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "SPG23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "hereditary spastic paraplegia type 23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia 23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia with pigmentary abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "SPG 23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia and pigmentary abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia vitiligo premature graying and characteristic facies",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia vitiligo premature greying and characteristic facies",
            "description": ""
        },
        {
            "id": "MIM:270750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/270750",
            "name": "Spastic paraplegia 23, autosomal recessive",
            "description": "Spastic paraplegia 23, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110774"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110774",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110774",
            "categories": []
        },
        {
            "id": "MONDO:0010046",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "categories": []
        },
        {
            "id": "MIM:270750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/270750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4VSN1-1",
            "uniprot_ac": "Q4VSN1",
            "uniprot_id": "DUSTY_DANRE",
            "refseq_ac": "NP_991190",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual serine/threonine and tyrosine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "Dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "dual serine/threonine and tyrosine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "receptor interacting protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dstyk",
                    "type": "recommended"
                },
                {
                    "name": "dstyk",
                    "type": "synonym"
                },
                {
                    "name": "ripk5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136421",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4VSN1-1",
            "evidence": [
                {
                    "id": "0110774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110774"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XUX1-1",
            "uniprot_ac": "Q6XUX1",
            "uniprot_id": "DUSTY_MOUSE",
            "refseq_ac": "NP_766104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual serine/threonine and tyrosine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "Dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "dual serine/threonine and tyrosine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "receptor interacting protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dstyk",
                    "type": "recommended"
                },
                {
                    "name": "A930019K20Rik",
                    "type": "synonym"
                },
                {
                    "name": "C430014H23Rik",
                    "type": "synonym"
                },
                {
                    "name": "C820013G01",
                    "type": "synonym"
                },
                {
                    "name": "Dstyk",
                    "type": "synonym"
                },
                {
                    "name": "Ripk5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XUX1-1",
            "evidence": [
                {
                    "id": "0110774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110774"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XUX3-1",
            "uniprot_ac": "Q6XUX3",
            "uniprot_id": "DUSTY_HUMAN",
            "refseq_ac": "NP_056190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual serine/threonine and tyrosine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "Dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "RIP-homologous kinase",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "SgK496",
                    "type": "synonym"
                },
                {
                    "name": "Sugen kinase 496",
                    "type": "synonym"
                },
                {
                    "name": "dual serine/threonine and tyrosine protein kinase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "sgK496",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 23 (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "sugen kinase 496",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSTYK",
                    "type": "recommended"
                },
                {
                    "name": "CAKUT1",
                    "type": "synonym"
                },
                {
                    "name": "DSTYK",
                    "type": "synonym"
                },
                {
                    "name": "DustyPK",
                    "type": "synonym"
                },
                {
                    "name": "HDCMD38P",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0472",
                    "type": "synonym"
                },
                {
                    "name": "RHDNS1",
                    "type": "synonym"
                },
                {
                    "name": "RIP5",
                    "type": "synonym"
                },
                {
                    "name": "RIPK5",
                    "type": "synonym"
                },
                {
                    "name": "SGK496",
                    "type": "synonym"
                },
                {
                    "name": "SPG23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XUX3-1",
            "evidence": [
                {
                    "id": "270750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/270750"
                },
                {
                    "id": "0110774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110774"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XUX2-1",
            "uniprot_ac": "Q6XUX2",
            "uniprot_id": "DUSTY_RAT",
            "refseq_ac": "NP_955750",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual serine/threonine and tyrosine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "Dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "Dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "dual serine/threonine and tyrosine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "dusty PK",
                    "type": "synonym"
                },
                {
                    "name": "dusty protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "receptor interacting protein kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dstyk",
                    "type": "recommended"
                },
                {
                    "name": "Dstyk",
                    "type": "synonym"
                },
                {
                    "name": "DustyPK",
                    "type": "synonym"
                },
                {
                    "name": "Ripk5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XUX2-1",
            "evidence": [
                {
                    "id": "0110774",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110774"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110774"
}