{
    "disease_id": "DOID:0110815",
    "recommended_name": {
        "id": "DOID:0110815",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110815",
        "name": "hereditary spastic paraplegia 64",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110815",
            "name": "SPG64",
            "description": ""
        },
        {
            "id": "DOID:0110815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110815",
            "name": "autosomal recessive spastic paraplegia 64",
            "description": ""
        },
        {
            "id": "DOID:0110815",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110815",
            "name": "autosomal recessive spastic paraplegia type 64",
            "description": ""
        },
        {
            "id": "MONDO:0014303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014303",
            "name": "hereditary spastic paraplegia 64",
            "description": "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1."
        },
        {
            "id": "MONDO:0014303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014303",
            "name": "ENTPD1 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014303",
            "name": "SPG64",
            "description": ""
        },
        {
            "id": "MONDO:0014303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014303",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1",
            "description": ""
        },
        {
            "id": "MONDO:0014303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014303",
            "name": "autosomal recessive spastic paraplegia type 64",
            "description": ""
        },
        {
            "id": "MONDO:0014303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014303",
            "name": "hereditary spastic paraplegia type 64",
            "description": ""
        },
        {
            "id": "MONDO:0014303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014303",
            "name": "spastic paraplegia 64, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615683",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615683",
            "name": "Spastic paraplegia 64, autosomal recessive",
            "description": "Spastic paraplegia 64, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110815"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110815",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110815",
            "categories": []
        },
        {
            "id": "MONDO:0014303",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014303",
            "categories": []
        },
        {
            "id": "MIM:615683",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615683",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5W7-1",
            "uniprot_ac": "A0ACD6B5W7",
            "uniprot_id": "A0ACD6B5W7_DANRE",
            "refseq_ac": "XP_005156383",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectonucleoside triphosphate diphosphohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "ATP diphosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATP diphosphohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-apyrase",
                    "type": "synonym"
                },
                {
                    "name": "Lymphoid cell activation antigen",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside triphosphate diphosphohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleoside triphosphate diphosphohydrolase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "entpd1",
                    "type": "recommended"
                },
                {
                    "name": "entpd1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100819",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5W7-1",
            "evidence": [
                {
                    "id": "0110815",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110815"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55772-1",
            "uniprot_ac": "P55772",
            "uniprot_id": "ENTP1_MOUSE",
            "refseq_ac": "NP_033978",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectonucleoside triphosphate diphosphohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "ATP diphosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "ATP-DPH",
                    "type": "synonym"
                },
                {
                    "name": "ATPDase",
                    "type": "synonym"
                },
                {
                    "name": "CD39 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATP diphosphohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATPDase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-apyrase",
                    "type": "synonym"
                },
                {
                    "name": "Lymphoid cell activation antigen",
                    "type": "synonym"
                },
                {
                    "name": "NTPDase 1",
                    "type": "synonym"
                },
                {
                    "name": "NTPDase1",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside triphosphate diphosphohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "ecto-ATP diphosphohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "ecto-ATPDase 1",
                    "type": "synonym"
                },
                {
                    "name": "ecto-ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "ectoapyrase",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleoside triphosphate diphosphohydrolase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lymphoid cell activation antigen",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside triphosphate diphosphohydrolase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Entpd1",
                    "type": "recommended"
                },
                {
                    "name": "2610206B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "ATP-DPH",
                    "type": "synonym"
                },
                {
                    "name": "Cd39",
                    "type": "synonym"
                },
                {
                    "name": "E130009M23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Entpd1",
                    "type": "synonym"
                },
                {
                    "name": "NTPDase-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P55772-1",
            "evidence": [
                {
                    "id": "0110815",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110815"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49961-1",
            "uniprot_ac": "P49961",
            "uniprot_id": "ENTP1_HUMAN",
            "refseq_ac": "NP_001091645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ectonucleoside triphosphate diphosphohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "ATP diphosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "ATP-DPH",
                    "type": "synonym"
                },
                {
                    "name": "ATPDase",
                    "type": "synonym"
                },
                {
                    "name": "CD39 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATP diphosphohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATPDase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-apyrase",
                    "type": "synonym"
                },
                {
                    "name": "Lymphoid cell activation antigen",
                    "type": "synonym"
                },
                {
                    "name": "NTPDase1",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside triphosphate diphosphohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "ecto-ATP diphosphohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "ecto-ATPDase 1",
                    "type": "synonym"
                },
                {
                    "name": "ecto-ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "ecto-apyrase",
                    "type": "synonym"
                },
                {
                    "name": "ectonucleoside triphosphate diphosphohydrolase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lymphoid cell activation antigen",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside triphosphate diphosphohydrolase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENTPD1",
                    "type": "recommended"
                },
                {
                    "name": "ATP-DPH",
                    "type": "synonym"
                },
                {
                    "name": "ATPDase",
                    "type": "synonym"
                },
                {
                    "name": "CD39",
                    "type": "synonym"
                },
                {
                    "name": "ENTPD1",
                    "type": "synonym"
                },
                {
                    "name": "NTPDase-1",
                    "type": "synonym"
                },
                {
                    "name": "SPG64",
                    "type": "synonym"
                }
            ],
            "record_id": "P49961-1",
            "evidence": [
                {
                    "id": "615683",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615683"
                },
                {
                    "id": "0110815",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110815"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97687-1",
            "uniprot_ac": "P97687",
            "uniprot_id": "ENTP1_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": "Ectonucleoside triphosphate diphosphohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.5",
                    "type": "synonym"
                },
                {
                    "name": "ATP diphosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "ATP-DPH",
                    "type": "synonym"
                },
                {
                    "name": "ATPDase",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATP diphosphohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATPDase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "Ecto-apyrase",
                    "type": "synonym"
                },
                {
                    "name": "Lymphoid cell activation antigen",
                    "type": "synonym"
                },
                {
                    "name": "NTPDase1",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside triphosphate diphosphohydrolase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Entpd1",
                    "type": "recommended"
                },
                {
                    "name": "Cd39",
                    "type": "synonym"
                }
            ],
            "record_id": "P97687-1",
            "evidence": [
                {
                    "id": "0110815",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110815"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06766-1",
            "uniprot_ac": "P06766",
            "uniprot_id": "DPOLB_RAT",
            "refseq_ac": "NP_058837",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "4.2.99.-",
                    "type": "synonym"
                },
                {
                    "name": "4.2.99.18",
                    "type": "synonym"
                },
                {
                    "name": "5'-dRP lyase",
                    "type": "synonym"
                },
                {
                    "name": "5'-deoxyribose-phosphate lyase",
                    "type": "synonym"
                },
                {
                    "name": "AP lyase",
                    "type": "synonym"
                },
                {
                    "name": "DNA pol beta",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase beta",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase beta",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), beta",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) beta",
                    "type": "synonym"
                },
                {
                    "name": "polymerase-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polb",
                    "type": "recommended"
                },
                {
                    "name": "Polb",
                    "type": "synonym"
                }
            ],
            "record_id": "P06766-1",
            "evidence": [
                {
                    "id": "0110815",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110815"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110815"
}