{
    "disease_id": "DOID:0110813",
    "recommended_name": {
        "id": "DOID:0110813",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110813",
        "name": "hereditary spastic paraplegia 62",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110813",
            "name": "SPG62",
            "description": ""
        },
        {
            "id": "DOID:0110813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110813",
            "name": "autosomal recessive spastic paraplegia 62",
            "description": ""
        },
        {
            "id": "DOID:0110813",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110813",
            "name": "autosomal recessive spastic paraplegia type 62",
            "description": ""
        },
        {
            "id": "MONDO:0014302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014302",
            "name": "hereditary spastic paraplegia 62",
            "description": "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some."
        },
        {
            "id": "MONDO:0014302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014302",
            "name": "ERLIN1 autosomal recessive pure spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014302",
            "name": "SPG62",
            "description": ""
        },
        {
            "id": "MONDO:0014302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014302",
            "name": "autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1",
            "description": ""
        },
        {
            "id": "MONDO:0014302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014302",
            "name": "autosomal recessive spastic paraplegia type 62",
            "description": ""
        },
        {
            "id": "MONDO:0014302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014302",
            "name": "hereditary spastic paraplegia type 62",
            "description": ""
        },
        {
            "id": "MONDO:0014302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014302",
            "name": "spastic paraplegia 62, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615681",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615681",
            "name": "Spastic paraplegia 62, autosomal recessive",
            "description": "Spastic paraplegia 62, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110813"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110813",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110813",
            "categories": []
        },
        {
            "id": "MONDO:0014302",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014302",
            "categories": []
        },
        {
            "id": "MIM:615681",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615681",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q58EG2-1",
            "uniprot_ac": "Q58EG2",
            "uniprot_id": "ERLN1_DANRE",
            "refseq_ac": "NP_001014325",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erlin-1",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "erlin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "erlin1",
                    "type": "recommended"
                },
                {
                    "name": "erlin1",
                    "type": "synonym"
                },
                {
                    "name": "fa10h05",
                    "type": "synonym"
                },
                {
                    "name": "fb19h05",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-223p8.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa10h05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb19h05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110547",
                    "type": "synonym"
                }
            ],
            "record_id": "Q58EG2-1",
            "evidence": [
                {
                    "id": "0110813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91X78-1",
            "uniprot_ac": "Q91X78",
            "uniprot_id": "ERLN1_MOUSE",
            "refseq_ac": "NP_001157831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erlin-1",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein KE04 homolog",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain family, member 1",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum lipid raft-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "erlin-1",
                    "type": "synonym"
                },
                {
                    "name": "protein KE04 homolog",
                    "type": "synonym"
                },
                {
                    "name": "stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erlin1",
                    "type": "recommended"
                },
                {
                    "name": "2810439N09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Erlin1",
                    "type": "synonym"
                },
                {
                    "name": "Keo4",
                    "type": "synonym"
                },
                {
                    "name": "Spfh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91X78-1",
            "evidence": [
                {
                    "id": "0110813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75477-1",
            "uniprot_ac": "O75477",
            "uniprot_id": "ERLN1_HUMAN",
            "refseq_ac": "NP_001094096",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Erlin-1",
                    "type": "recommended"
                },
                {
                    "name": "Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein KE04",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain family, member 1",
                    "type": "synonym"
                },
                {
                    "name": "SPFH domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum lipid raft-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "erlin-1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERLIN1",
                    "type": "recommended"
                },
                {
                    "name": "C10orf69",
                    "type": "synonym"
                },
                {
                    "name": "ERLIN1",
                    "type": "synonym"
                },
                {
                    "name": "Erlin-1",
                    "type": "synonym"
                },
                {
                    "name": "KE04",
                    "type": "synonym"
                },
                {
                    "name": "KEO4",
                    "type": "synonym"
                },
                {
                    "name": "SPFH1",
                    "type": "synonym"
                },
                {
                    "name": "SPG62",
                    "type": "synonym"
                }
            ],
            "record_id": "O75477-1",
            "evidence": [
                {
                    "id": "615681",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615681"
                },
                {
                    "id": "0110813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110813"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WBY7-1",
            "uniprot_ac": "B1WBY7",
            "uniprot_id": "B1WBY7_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": "Erlin-1",
                    "type": "recommended"
                },
                {
                    "name": "Endoplasmic reticulum lipid raft-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Erlin1",
                    "type": "recommended"
                }
            ],
            "record_id": "B1WBY7-1",
            "evidence": [
                {
                    "id": "0110813",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110813"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110813"
}