{
    "disease_id": "DOID:0080458",
    "recommended_name": {
        "id": "DOID:0080458",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080458",
        "name": "developmental and epileptic encephalopathy 35",
        "description": "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080458",
            "name": "ITPA-related encephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0080458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080458",
            "name": "DEE35",
            "description": ""
        },
        {
            "id": "DOID:0080458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080458",
            "name": "early infantile epileptic encephalopathy 35",
            "description": ""
        },
        {
            "id": "MONDO:0014719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014719",
            "name": "developmental and epileptic encephalopathy, 35",
            "description": ""
        },
        {
            "id": "MONDO:0014719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014719",
            "name": "DEE35",
            "description": ""
        },
        {
            "id": "MONDO:0014719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014719",
            "name": "EIEE35",
            "description": ""
        },
        {
            "id": "MONDO:0014719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014719",
            "name": "developmental and epileptic encephalopathy 35",
            "description": ""
        },
        {
            "id": "MONDO:0014719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014719",
            "name": "epileptic encephalopathy, early infantile, 35",
            "description": ""
        },
        {
            "id": "MONDO:0014719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014719",
            "name": "epileptic encephalopathy, early infantile, type 35",
            "description": ""
        },
        {
            "id": "MIM:616647",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616647",
            "name": "Developmental and epileptic encephalopathy 35",
            "description": "Developmental and epileptic encephalopathy 35"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080458"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080458",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080458",
            "categories": []
        },
        {
            "id": "MONDO:0014719",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014719",
            "categories": []
        },
        {
            "id": "MIM:616647",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616647",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5WVX0-1",
            "uniprot_ac": "A5WVX0",
            "uniprot_id": "ITPA_DANRE",
            "refseq_ac": "NP_001093456",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inosine triphosphate pyrophosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.66",
                    "type": "synonym"
                },
                {
                    "name": "ITPase",
                    "type": "synonym"
                },
                {
                    "name": "Inosine triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "NTPase",
                    "type": "synonym"
                },
                {
                    "name": "Non-canonical purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Non-standard purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "XTP/dITP diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inosine triphosphate pyrophosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "itpa",
                    "type": "recommended"
                },
                {
                    "name": "itpa",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-18j6.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-19f21.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WVX0-1",
            "evidence": [
                {
                    "id": "0080458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D892-1",
            "uniprot_ac": "Q9D892",
            "uniprot_id": "ITPA_MOUSE",
            "refseq_ac": "NP_080198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inosine triphosphate pyrophosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.66",
                    "type": "synonym"
                },
                {
                    "name": "ITPase",
                    "type": "synonym"
                },
                {
                    "name": "Inosine triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "NTPase",
                    "type": "synonym"
                },
                {
                    "name": "Non-canonical purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Non-standard purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "XTP/dITP diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inosine triphosphate pyrophosphatase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "non-canonical purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "non-standard purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside triphosphate pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside-triphosphate diphosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itpa",
                    "type": "recommended"
                },
                {
                    "name": "2010016I08Rik",
                    "type": "synonym"
                },
                {
                    "name": "ITPase",
                    "type": "synonym"
                },
                {
                    "name": "Itpa",
                    "type": "synonym"
                },
                {
                    "name": "Itp",
                    "type": "synonym"
                },
                {
                    "name": "NTPase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D892-1",
            "evidence": [
                {
                    "id": "0080458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BY32-1",
            "uniprot_ac": "Q9BY32",
            "uniprot_id": "ITPA_HUMAN",
            "refseq_ac": "NP_001254552",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inosine triphosphate pyrophosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.66",
                    "type": "synonym"
                },
                {
                    "name": "ITPase",
                    "type": "synonym"
                },
                {
                    "name": "Inosine triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "NTPase",
                    "type": "synonym"
                },
                {
                    "name": "Non-canonical purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Non-standard purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Putative oncogene protein hlc14-06-p",
                    "type": "synonym"
                },
                {
                    "name": "XTP/dITP diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "inosine triphosphatase (nucleoside triphosphate pyrophosphatase)",
                    "type": "synonym"
                },
                {
                    "name": "inosine triphosphate pyrophosphatase isoform c",
                    "type": "synonym"
                },
                {
                    "name": "inosine triphosphate pyrophosphohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "non-canonical purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "non-standard purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside-triphosphate diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "putative oncogene protein HLC14-06-P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITPA",
                    "type": "recommended"
                },
                {
                    "name": "C20orf37",
                    "type": "synonym"
                },
                {
                    "name": "DEE35",
                    "type": "synonym"
                },
                {
                    "name": "HLC14-06-P",
                    "type": "synonym"
                },
                {
                    "name": "ITPA",
                    "type": "synonym"
                },
                {
                    "name": "ITPase",
                    "type": "synonym"
                },
                {
                    "name": "My049",
                    "type": "synonym"
                },
                {
                    "name": "NTPase",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.9",
                    "type": "synonym"
                },
                {
                    "name": "dJ794I6.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BY32-1",
            "evidence": [
                {
                    "id": "616647",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616647"
                },
                {
                    "id": "0080458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47119-1",
            "uniprot_ac": "P47119",
            "uniprot_id": "ITPA_YEAST",
            "refseq_ac": "NP_012603",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inosine triphosphate pyrophosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.66",
                    "type": "synonym"
                },
                {
                    "name": "Hydroxylaminopurine sensitivity protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ITPase",
                    "type": "synonym"
                },
                {
                    "name": "Inosine triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "NTPase",
                    "type": "synonym"
                },
                {
                    "name": "Non-canonical purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Non-standard purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "XTP/dITP diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside triphosphate pyrophosphohydrolase HAM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HAM1",
                    "type": "recommended"
                },
                {
                    "name": "HAM1",
                    "type": "synonym"
                },
                {
                    "name": "J1811",
                    "type": "synonym"
                }
            ],
            "record_id": "P47119-1",
            "evidence": [
                {
                    "id": "0080458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZW55-1",
            "uniprot_ac": "D3ZW55",
            "uniprot_id": "ITPA_RAT",
            "refseq_ac": "NP_001101244",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inosine triphosphate pyrophosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.66",
                    "type": "synonym"
                },
                {
                    "name": "ITPase",
                    "type": "synonym"
                },
                {
                    "name": "Inosine triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "NTPase",
                    "type": "synonym"
                },
                {
                    "name": "Non-canonical purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Non-standard purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "XTP/dITP diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inosine triphosphatase (nucleoside triphosphate pyrophosphatase)",
                    "type": "synonym"
                },
                {
                    "name": "inosine triphosphate pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "non-canonical purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "non-standard purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside-triphosphate diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside-triphosphate pyrophosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itpa",
                    "type": "recommended"
                },
                {
                    "name": "ITPA",
                    "type": "synonym"
                },
                {
                    "name": "Itpa",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZW55-1",
            "evidence": [
                {
                    "id": "0080458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMW7-1",
            "uniprot_ac": "Q9VMW7",
            "uniprot_id": "ITPA_DROME",
            "refseq_ac": "NP_608890",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inosine triphosphate pyrophosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.66",
                    "type": "synonym"
                },
                {
                    "name": "CG8891-PA",
                    "type": "synonym"
                },
                {
                    "name": "ITPase",
                    "type": "synonym"
                },
                {
                    "name": "Inosine triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "NTPase",
                    "type": "synonym"
                },
                {
                    "name": "Non-canonical purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Non-standard purine NTP pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside-triphosphate pyrophosphatase",
                    "type": "synonym"
                },
                {
                    "name": "XTP/dITP diphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG8891",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8891",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMW7-1",
            "evidence": [
                {
                    "id": "0080458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080458"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080458"
}