{
    "disease_id": "DOID:0070458",
    "recommended_name": {
        "id": "DOID:0070458",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070458",
        "name": "hereditary spastic paraplegia 89",
        "description": "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070458",
            "name": "SPG89",
            "description": ""
        },
        {
            "id": "DOID:0070458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070458",
            "name": "autosomal recessive spastic paraplegia 89",
            "description": ""
        },
        {
            "id": "MONDO:0957274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957274",
            "name": "spastic paraplegia 89, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620379",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620379",
            "name": "Spastic paraplegia 89, autosomal recessive",
            "description": "Spastic paraplegia 89, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070458"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070458",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070458",
            "categories": []
        },
        {
            "id": "MONDO:0957274",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957274",
            "categories": []
        },
        {
            "id": "MIM:620379",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620379",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QB30-1",
            "uniprot_ac": "F1QB30",
            "uniprot_id": "AMFR_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase AMFR",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "AMF receptor",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "amfra",
                    "type": "recommended"
                },
                {
                    "name": "wu:fi06e06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi37e05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63893",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QB30-1",
            "evidence": [
                {
                    "id": "0070458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1D5NS78-1",
            "uniprot_ac": "A0A1D5NS78",
            "uniprot_id": "A0A1D5NS78_DANRE",
            "refseq_ac": "XP_005169066",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase AMFR-like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "amfrb",
                    "type": "recommended"
                },
                {
                    "name": "amfrb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1D5NS78-1",
            "evidence": [
                {
                    "id": "0070458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R049-1",
            "uniprot_ac": "Q9R049",
            "uniprot_id": "AMFR_MOUSE",
            "refseq_ac": "NP_035917",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase AMFR",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "AMF receptor",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase AMFR isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase AMFR",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase AMFR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amfr",
                    "type": "recommended"
                },
                {
                    "name": "Amfr",
                    "type": "synonym"
                },
                {
                    "name": "gp78",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R049-1",
            "evidence": [
                {
                    "id": "0070458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UKV5-1",
            "uniprot_ac": "Q9UKV5",
            "uniprot_id": "AMFR_HUMAN",
            "refseq_ac": "NP_001135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase AMFR",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "AMF receptor",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase AMFR isoform c",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase AMFR",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 45",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase AMFR",
                    "type": "synonym"
                },
                {
                    "name": "gp78",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMFR",
                    "type": "recommended"
                },
                {
                    "name": "AMFR",
                    "type": "synonym"
                },
                {
                    "name": "GP78",
                    "type": "synonym"
                },
                {
                    "name": "RNF45",
                    "type": "synonym"
                },
                {
                    "name": "SPG89",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKV5-1",
            "evidence": [
                {
                    "id": "620379",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620379"
                },
                {
                    "id": "0070458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K437-1",
            "uniprot_ac": "A0A0G2K437",
            "uniprot_id": "A0A0G2K437_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": "E3 ubiquitin-protein ligase AMFR",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Amfr",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K437-1",
            "evidence": [
                {
                    "id": "0070458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070458"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070458"
}