{
    "disease_id": "DOID:0070640",
    "recommended_name": {
        "id": "DOID:0070640",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070640",
        "name": "hereditary spastic paraplegia 18A",
        "description": "A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070640",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070640",
            "name": "autosomal dominant spastic paraplegia 18",
            "description": ""
        },
        {
            "id": "DOID:0070640",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070640",
            "name": "spastic paraplegia 18A",
            "description": ""
        },
        {
            "id": "MONDO:0957788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957788",
            "name": "spastic paraplegia 18a, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:620512",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620512",
            "name": "Spastic paraplegia 18A, autosomal dominant",
            "description": "Spastic paraplegia 18A, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070640"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070640",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070640",
            "categories": []
        },
        {
            "id": "MONDO:0957788",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957788",
            "categories": []
        },
        {
            "id": "MIM:620512",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620512",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum lipid raft-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "erlin-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "erlin-2",
                    "type": "synonym"
                },
                {
                    "name": "stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erlin2",
                    "type": "recommended"
                },
                {
                    "name": "Erlin2",
                    "type": "synonym"
                },
                {
                    "name": "Spfh2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BFZ9-1",
            "evidence": [
                {
                    "id": "0070640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070640"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum lipid raft-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "erlin-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 18 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERLIN2",
                    "type": "recommended"
                },
                {
                    "name": "C8orf2",
                    "type": "synonym"
                },
                {
                    "name": "ERLIN2",
                    "type": "synonym"
                },
                {
                    "name": "Erlin-2",
                    "type": "synonym"
                },
                {
                    "name": "NET32",
                    "type": "synonym"
                },
                {
                    "name": "PRO9924",
                    "type": "synonym"
                },
                {
                    "name": "SPFH2",
                    "type": "synonym"
                },
                {
                    "name": "SPG18A",
                    "type": "synonym"
                },
                {
                    "name": "SPG18B",
                    "type": "synonym"
                },
                {
                    "name": "SPG18",
                    "type": "synonym"
                }
            ],
            "record_id": "O94905-1",
            "evidence": [
                {
                    "id": "620512",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620512"
                },
                {
                    "id": "0070640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070640"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum lipid raft-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "erlin-2",
                    "type": "synonym"
                },
                {
                    "name": "stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erlin2",
                    "type": "recommended"
                },
                {
                    "name": "Erlin2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309010",
                    "type": "synonym"
                },
                {
                    "name": "Spfh2",
                    "type": "synonym"
                }
            ],
            "record_id": "B5DEH2-1",
            "evidence": [
                {
                    "id": "0070640",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070640"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070640"
}