{
    "disease_id": "DOID:0060491",
    "recommended_name": {
        "id": "DOID:0060491",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060491",
        "name": "SPOAN syndrome",
        "description": "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060491",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060491",
            "name": "spastic paraplegia, optic atropy, and neuropathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060491",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060491",
            "name": "spastic paraplegia, optic atropy, and neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0012297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012297",
            "name": "spastic paraplegia, optic atropy, and neuropathy",
            "description": "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2."
        },
        {
            "id": "MONDO:0012297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012297",
            "name": "SPOAN",
            "description": ""
        },
        {
            "id": "MONDO:0012297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012297",
            "name": "SPOAN syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012297",
            "name": "spastic paraplegia-optic atrophy-neuropathy syndrome",
            "description": ""
        },
        {
            "id": "MIM:609541",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609541",
            "name": "Spastic paraplegia, optic atrophy, and neuropathy",
            "description": "Spastic paraplegia, optic atrophy, and neuropathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060491"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060491",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060491",
            "categories": []
        },
        {
            "id": "MONDO:0012297",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012297",
            "categories": []
        },
        {
            "id": "MIM:609541",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609541",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O88448-1",
            "uniprot_ac": "O88448",
            "uniprot_id": "KLC2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin light chain 2",
                    "type": "recommended"
                },
                {
                    "name": "KLC 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klc2",
                    "type": "recommended"
                }
            ],
            "record_id": "O88448-1",
            "evidence": [
                {
                    "id": "0060491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0B6-1",
            "uniprot_ac": "Q9H0B6",
            "uniprot_id": "KLC2_HUMAN",
            "refseq_ac": "NP_001128246",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin light chain 2",
                    "type": "recommended"
                },
                {
                    "name": "KLC 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin light chain 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KLC2",
                    "type": "recommended"
                },
                {
                    "name": "KLC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H0B6-1",
            "evidence": [
                {
                    "id": "609541",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609541"
                },
                {
                    "id": "0060491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7ET11-1",
            "uniprot_ac": "F7ET11",
            "uniprot_id": "F7ET11_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin light chain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Klc2",
                    "type": "recommended"
                }
            ],
            "record_id": "F7ET11-1",
            "evidence": [
                {
                    "id": "0060491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46824-1",
            "uniprot_ac": "P46824",
            "uniprot_id": "KLC_DROME",
            "refseq_ac": "NP_001261780",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin light chain",
                    "type": "recommended"
                },
                {
                    "name": "CG5433-PB",
                    "type": "synonym"
                },
                {
                    "name": "KLC",
                    "type": "synonym"
                },
                {
                    "name": "Klc-PB",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 1 light chain",
                    "type": "synonym"
                },
                {
                    "name": "kinesin I",
                    "type": "synonym"
                },
                {
                    "name": "kinesin light chain subunit of kinesin-1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin light chain, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-1 light chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klc",
                    "type": "recommended"
                },
                {
                    "name": "CG5433",
                    "type": "synonym"
                },
                {
                    "name": "DKLC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5433",
                    "type": "synonym"
                },
                {
                    "name": "KLC",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin",
                    "type": "synonym"
                },
                {
                    "name": "Klc",
                    "type": "synonym"
                },
                {
                    "name": "kinesin",
                    "type": "synonym"
                },
                {
                    "name": "klc",
                    "type": "synonym"
                }
            ],
            "record_id": "P46824-1",
            "evidence": [
                {
                    "id": "0060491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060491"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060491"
}