{
    "disease_id": "DOID:0110771",
    "recommended_name": {
        "id": "DOID:0110771",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110771",
        "name": "hereditary spastic paraplegia 18",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110771",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110771",
            "name": "intellectual disability, motor dysfunction and joint contractures",
            "description": ""
        },
        {
            "id": "DOID:0110771",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110771",
            "name": "IDMDC",
            "description": ""
        },
        {
            "id": "DOID:0110771",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110771",
            "name": "SPG18",
            "description": ""
        },
        {
            "id": "DOID:0110771",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110771",
            "name": "autosomal recessive spastic paraplegia 18",
            "description": ""
        },
        {
            "id": "DOID:0110771",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110771",
            "name": "autosomal recessive spastic paraplegia type 18",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "hereditary spastic paraplegia 18",
            "description": "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2."
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "ERLIN2 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "SPG18",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "autosomal recessive spastic paraplegia 18",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "autosomal recessive spastic paraplegia type 18",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "hereditary spastic paraplegia type 18",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "intellectual disability, motor dysfunction and joint contractures",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "intellectual disability, motor dysfunction, and Joint contractures",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "spastic paraplegia 18",
            "description": ""
        },
        {
            "id": "MONDO:0012639",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "name": "spastic paraplegia 18, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:611225",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611225",
            "name": "Spastic paraplegia 18B, autosomal recessive",
            "description": "Spastic paraplegia 18B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110771"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110771",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110771",
            "categories": []
        },
        {
            "id": "MONDO:0012639",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012639",
            "categories": []
        },
        {
            "id": "MIM:611225",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611225",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BFZ9-1",
            "uniprot_ac": "Q8BFZ9",
            "uniprot_id": "ERLN2_MOUSE",
            "refseq_ac": "NP_705820",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erlin-2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain family, member 2; erlin-2; SPFH domain-containing protein 2; endoplasmic reticulum lipid raft-associated protein 2; stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain-containing protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "erlin-2 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erlin2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Erlin2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Spfh2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Spfh2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110771",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110771"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94905-1",
            "uniprot_ac": "O94905",
            "uniprot_id": "ERLN2_HUMAN",
            "refseq_ac": "NP_001003790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erlin-2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain family, member 2; endoplasmic reticulum lipid raft-associated protein 2; epididymis secretory sperm binding protein; stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2; spastic paraplegia 18 (autosomal dominant)",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain-containing protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "erlin-2 isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERLIN2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "C8orf2; Erlin-2; NET32; SPFH2; SPG18; SPG18A; SPG18B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "C8orf2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ERLIN2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PRO9924",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SPFH2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110771",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110771"
                },
                {
                    "id": "611225",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B5DEH2-1",
            "uniprot_ac": "B5DEH2",
            "uniprot_id": "ERLN2_RAT",
            "refseq_ac": "NP_001099558",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erlin-2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain family, member 2; SPFH domain-containing protein 2; endoplasmic reticulum lipid raft-associated protein 2; stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain-containing protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "erlin-2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erlin2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Erlin2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309010; Spfh2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Spfh2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110771",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110771"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110771"
}