{
    "disease_id": "DOID:0110817",
    "recommended_name": {
        "id": "DOID:0110817",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110817",
        "name": "hereditary spastic paraplegia 72A",
        "description": "A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110817",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110817",
            "name": "SPG72",
            "description": ""
        },
        {
            "id": "MONDO:0014282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014282",
            "name": "hereditary spastic paraplegia 72",
            "description": "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene."
        },
        {
            "id": "MONDO:0014282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014282",
            "name": "REEP2 pure hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014282",
            "name": "SPG72",
            "description": ""
        },
        {
            "id": "MONDO:0014282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014282",
            "name": "autosomal spastic paraplegia type 72",
            "description": ""
        },
        {
            "id": "MONDO:0014282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014282",
            "name": "hereditary spastic paraplegia type 72",
            "description": ""
        },
        {
            "id": "MONDO:0014282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014282",
            "name": "pure hereditary spastic paraplegia caused by mutation in REEP2",
            "description": ""
        },
        {
            "id": "MONDO:0014282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014282",
            "name": "spastic paraplegia 72, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014282",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014282",
            "name": "spastic paraplegia 72, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615625",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615625",
            "name": "Spastic paraplegia 72A, autosomal dominant",
            "description": "Spastic paraplegia 72A, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110817"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110817",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110817",
            "categories": []
        },
        {
            "id": "MONDO:0014282",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014282",
            "categories": []
        },
        {
            "id": "MIM:615625",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615625",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4KMI4-1",
            "uniprot_ac": "Q4KMI4",
            "uniprot_id": "REEP2_DANRE",
            "refseq_ac": "NP_001025398",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "receptor expression-enhancing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "reep2",
                    "type": "recommended"
                },
                {
                    "name": "reep2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110128",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KMI4-1",
            "evidence": [
                {
                    "id": "0110817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VCD6-1",
            "uniprot_ac": "Q8VCD6",
            "uniprot_id": "REEP2_MOUSE",
            "refseq_ac": "NP_001191843",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "receptor expression-enhancing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Reep2",
                    "type": "recommended"
                },
                {
                    "name": "Reep2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCD6-1",
            "evidence": [
                {
                    "id": "0110817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BRK0-1",
            "uniprot_ac": "Q9BRK0",
            "uniprot_id": "REEP2_HUMAN",
            "refseq_ac": "NP_001258732",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "receptor expression-enhancing protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "REEP2",
                    "type": "recommended"
                },
                {
                    "name": "C5orf19",
                    "type": "synonym"
                },
                {
                    "name": "REEP2",
                    "type": "synonym"
                },
                {
                    "name": "SGC32445",
                    "type": "synonym"
                },
                {
                    "name": "SPG72A",
                    "type": "synonym"
                },
                {
                    "name": "SPG72B",
                    "type": "synonym"
                },
                {
                    "name": "SPG72",
                    "type": "synonym"
                },
                {
                    "name": "Yip2d",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BRK0-1",
            "evidence": [
                {
                    "id": "615625",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615625"
                },
                {
                    "id": "0110817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K1L5-1",
            "uniprot_ac": "A0A0G2K1L5",
            "uniprot_id": "A0A0G2K1L5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Reep2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K1L5-1",
            "evidence": [
                {
                    "id": "0110817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110817"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4JCU3-1",
            "uniprot_ac": "A0A0B4JCU3",
            "uniprot_id": "A0A0B4JCU3_DROME",
            "refseq_ac": "NP_001188988",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42678-PI",
                    "type": "synonym"
                },
                {
                    "name": "REEP1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "REEP1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Receptor expression enhancing protein A, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "ReepA-PI",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression enhancing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression enhancing protein A, isoform I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ReepA",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD42159",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RE29641",
                    "type": "synonym"
                },
                {
                    "name": "CG30190",
                    "type": "synonym"
                },
                {
                    "name": "CG30193",
                    "type": "synonym"
                },
                {
                    "name": "CG42678",
                    "type": "synonym"
                },
                {
                    "name": "CG9848",
                    "type": "synonym"
                },
                {
                    "name": "D-reep1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42678",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42678",
                    "type": "synonym"
                },
                {
                    "name": "REEP1",
                    "type": "synonym"
                },
                {
                    "name": "REEPA",
                    "type": "synonym"
                },
                {
                    "name": "Reep1",
                    "type": "synonym"
                },
                {
                    "name": "ReepA",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.113",
                    "type": "synonym"
                },
                {
                    "name": "reep1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4JCU3-1",
            "evidence": [
                {
                    "id": "0110817",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110817"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110817"
}