{
    "disease_id": "DOID:0110805",
    "recommended_name": {
        "id": "DOID:0110805",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110805",
        "name": "hereditary spastic paraplegia 53",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22."
    },
    "synonyms": [
        {
            "id": "DOID:0110805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110805",
            "name": "SPG53",
            "description": ""
        },
        {
            "id": "DOID:0110805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110805",
            "name": "autosomal recessive spastic paraplegia 53",
            "description": ""
        },
        {
            "id": "DOID:0110805",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110805",
            "name": "autosomal recessive spastic paraplegia type 53",
            "description": ""
        },
        {
            "id": "MONDO:0013962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013962",
            "name": "hereditary spastic paraplegia 53",
            "description": "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A."
        },
        {
            "id": "MONDO:0013962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013962",
            "name": "SPG53",
            "description": ""
        },
        {
            "id": "MONDO:0013962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013962",
            "name": "VPS37A autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013962",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A",
            "description": ""
        },
        {
            "id": "MONDO:0013962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013962",
            "name": "autosomal recessive spastic paraplegia type 53",
            "description": ""
        },
        {
            "id": "MONDO:0013962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013962",
            "name": "hereditary spastic paraplegia 53",
            "description": ""
        },
        {
            "id": "MONDO:0013962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013962",
            "name": "hereditary spastic paraplegia type 53",
            "description": ""
        },
        {
            "id": "MONDO:0013962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013962",
            "name": "spastic paraplegia 53, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:614898",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614898",
            "name": "Spastic paraplegia 53, autosomal recessive",
            "description": "Spastic paraplegia 53, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110805"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110805",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110805",
            "categories": []
        },
        {
            "id": "MONDO:0013962",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013962",
            "categories": []
        },
        {
            "id": "MIM:614898",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614898",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CHS8-1",
            "uniprot_ac": "Q8CHS8",
            "uniprot_id": "VP37A_MOUSE",
            "refseq_ac": "NP_291038",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 37A",
                    "type": "recommended"
                },
                {
                    "name": "ESCRT-I complex subunit VPS37A",
                    "type": "synonym"
                },
                {
                    "name": "Vps37A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 37A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps37a",
                    "type": "recommended"
                },
                {
                    "name": "2210018P21Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930592A21Rik",
                    "type": "synonym"
                },
                {
                    "name": "D8Ertd531e",
                    "type": "synonym"
                },
                {
                    "name": "Vps37a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHS8-1",
            "evidence": [
                {
                    "id": "0110805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110805"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEZ2-1",
            "uniprot_ac": "Q8NEZ2",
            "uniprot_id": "VP37A_HUMAN",
            "refseq_ac": "NP_001138624",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 37A",
                    "type": "recommended"
                },
                {
                    "name": "ESCRT-I complex subunit VPS37A",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocellular carcinoma-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "VPS37A, ESCRT-I subunit",
                    "type": "synonym"
                },
                {
                    "name": "hVps37A",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polyglutamine binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 37 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 37A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 37A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS37A",
                    "type": "recommended"
                },
                {
                    "name": "HCRP1",
                    "type": "synonym"
                },
                {
                    "name": "PQBP2",
                    "type": "synonym"
                },
                {
                    "name": "SPG53",
                    "type": "synonym"
                },
                {
                    "name": "VPS37A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEZ2-1",
            "evidence": [
                {
                    "id": "614898",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614898"
                },
                {
                    "id": "0110805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110805"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O77259-1",
            "uniprot_ac": "O77259",
            "uniprot_id": "O77259_DROME",
            "refseq_ac": "NP_001259101",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17828-PF",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting 37A, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting 37A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting 37A, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Vsp37A-PF",
                    "type": "synonym"
                },
                {
                    "name": "modifier of rudimentary",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 37A, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vsp37A",
                    "type": "recommended"
                },
                {
                    "name": "CG17828",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17828",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17828",
                    "type": "synonym"
                },
                {
                    "name": "EG:115C2.5",
                    "type": "synonym"
                },
                {
                    "name": "Vps37",
                    "type": "synonym"
                },
                {
                    "name": "Vsp37A",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.78",
                    "type": "synonym"
                },
                {
                    "name": "mod(r)",
                    "type": "synonym"
                },
                {
                    "name": "vps37A",
                    "type": "synonym"
                }
            ],
            "record_id": "O77259-1",
            "evidence": [
                {
                    "id": "0110805",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110805"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110805"
}