{
    "disease_id": "DOID:0070352",
    "recommended_name": {
        "id": "DOID:0070352",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070352",
        "name": "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures",
        "description": "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy."
    },
    "synonyms": [
        {
            "id": "DOID:0070352",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070352",
            "name": "CONDSIAS",
            "description": ""
        },
        {
            "id": "MONDO:0100095",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100095",
            "name": "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",
            "description": "An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene."
        },
        {
            "id": "MONDO:0100095",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100095",
            "name": "CONDSIAS",
            "description": ""
        },
        {
            "id": "MONDO:0100095",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100095",
            "name": "childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100095",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100095",
            "name": "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",
            "description": ""
        },
        {
            "id": "MIM:618170",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618170",
            "name": "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",
            "description": "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070352"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070352",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070352",
            "categories": []
        },
        {
            "id": "MONDO:0100095",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100095",
            "categories": []
        },
        {
            "id": "MIM:618170",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618170",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66HT8-1",
            "uniprot_ac": "Q66HT8",
            "uniprot_id": "ADPRS_DANRE",
            "refseq_ac": "NP_001004565",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylhydrolase ARH3",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.143",
                    "type": "synonym"
                },
                {
                    "name": "3.2.2.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribose glycohydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase like 2",
                    "type": "synonym"
                },
                {
                    "name": "O-acetyl-ADP-ribose deacetylase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "Poly(ADP-ribose) glycohydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "[Protein ADP-ribosylarginine] hydrolase-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "[Protein ADP-ribosylserine] hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "poly(ADP-ribose) glycohydrolase ARH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adprs",
                    "type": "recommended"
                },
                {
                    "name": "adprhl2",
                    "type": "synonym"
                },
                {
                    "name": "adprs",
                    "type": "synonym"
                },
                {
                    "name": "arh3",
                    "type": "synonym"
                },
                {
                    "name": "fj36e06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj36e06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92867",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HT8-1",
            "evidence": [
                {
                    "id": "0070352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CG72-1",
            "uniprot_ac": "Q8CG72",
            "uniprot_id": "ADPRS_MOUSE",
            "refseq_ac": "NP_598644",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylhydrolase ARH3",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.143",
                    "type": "synonym"
                },
                {
                    "name": "3.2.2.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribose glycohydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase 2",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase like 2",
                    "type": "synonym"
                },
                {
                    "name": "O-acetyl-ADP-ribose deacetylase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "Poly(ADP-ribose) glycohydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "[Protein ADP-ribosylarginine] hydrolase-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "[Protein ADP-ribosylserine] hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "ecto ADP-ribosylhydrolase",
                    "type": "synonym"
                },
                {
                    "name": "poly(ADP-ribose) glycohydrolase ARH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adprs",
                    "type": "recommended"
                },
                {
                    "name": "Adprhl2",
                    "type": "synonym"
                },
                {
                    "name": "Adprs",
                    "type": "synonym"
                },
                {
                    "name": "Arh3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CG72-1",
            "evidence": [
                {
                    "id": "0070352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88622-1",
            "uniprot_ac": "O88622",
            "uniprot_id": "PARG_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(ADP-ribose) glycohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.143",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Parg",
                    "type": "recommended"
                }
            ],
            "record_id": "O88622-1",
            "evidence": [
                {
                    "id": "0070352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NX46-1",
            "uniprot_ac": "Q9NX46",
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            "refseq_ac": "NP_060295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylhydrolase ARH3",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.143",
                    "type": "synonym"
                },
                {
                    "name": "3.2.2.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribose glycohydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylarginine hydrolase like 2",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase like 2",
                    "type": "synonym"
                },
                {
                    "name": "O-acetyl-ADP-ribose deacetylase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "Poly(ADP-ribose) glycohydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "[Protein ADP-ribosylarginine] hydrolase-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "[Protein ADP-ribosylserine] hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "poly(ADP-ribose) glycohydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "protein ADP-ribosylarginine hydrolase-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADPRS",
                    "type": "recommended"
                },
                {
                    "name": "ADPRHL2",
                    "type": "synonym"
                },
                {
                    "name": "ADPRS",
                    "type": "synonym"
                },
                {
                    "name": "ARH3",
                    "type": "synonym"
                },
                {
                    "name": "CONDSIAS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NX46-1",
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                {
                    "id": "618170",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618170"
                },
                {
                    "id": "0070352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0K017-1",
            "uniprot_ac": "B0K017",
            "uniprot_id": "B0K017_RAT",
            "refseq_ac": "NP_001102150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylhydrolase ARH3",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.143",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribose glycohydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylhydrolase like 2",
                    "type": "synonym"
                },
                {
                    "name": "O-acetyl-ADP-ribose deacetylase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "Poly(ADP-ribose) glycohydrolase ARH3",
                    "type": "synonym"
                },
                {
                    "name": "[Protein ADP-ribosylarginine] hydrolase-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "[Protein ADP-ribosylserine] hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "poly(ADP-ribose) glycohydrolase ARH3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Adprs",
                    "type": "recommended"
                },
                {
                    "name": "Adprhl2",
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                },
                {
                    "name": "Adprs",
                    "type": "synonym"
                }
            ],
            "record_id": "B0K017-1",
            "evidence": [
                {
                    "id": "0070352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYM2-1",
            "uniprot_ac": "Q9QYM2",
            "uniprot_id": "PARG_RAT",
            "refseq_ac": "NP_112629",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(ADP-ribose) glycohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.143",
                    "type": "synonym"
                },
                {
                    "name": "poly(ADP-ribose) glycohydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Parg",
                    "type": "recommended"
                },
                {
                    "name": "Parg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYM2-1",
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                {
                    "id": "0070352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46043-1",
            "uniprot_ac": "O46043",
            "uniprot_id": "PARG_DROME",
            "refseq_ac": "NP_001245511",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(ADP-ribose) glycohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.143",
                    "type": "synonym"
                },
                {
                    "name": "3.2.2.-",
                    "type": "synonym"
                },
                {
                    "name": "CG2864-PB",
                    "type": "synonym"
                },
                {
                    "name": "Parg-PB",
                    "type": "synonym"
                },
                {
                    "name": "Poly(ADP-ribose) glycohydrolase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Poly(ADP-ribose) glycohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Poly(ADP-ribose)glycohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Poly(ADPribose) glyco-hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "[Protein ADP-ribosylserine] hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Parg",
                    "type": "recommended"
                },
                {
                    "name": "CG2864",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2864",
                    "type": "synonym"
                },
                {
                    "name": "EG:114E2.1",
                    "type": "synonym"
                },
                {
                    "name": "HD10914",
                    "type": "synonym"
                },
                {
                    "name": "PARG",
                    "type": "synonym"
                },
                {
                    "name": "Parg",
                    "type": "synonym"
                },
                {
                    "name": "dParg",
                    "type": "synonym"
                },
                {
                    "name": "parg",
                    "type": "synonym"
                }
            ],
            "record_id": "O46043-1",
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                {
                    "id": "0070352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86WA6-1",
            "uniprot_ac": "Q86WA6",
            "uniprot_id": "BPHL_HUMAN",
            "refseq_ac": "NP_001289706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine hydrolase BPHL",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Biphenyl hydrolase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Biphenyl hydrolase-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Bph-rp",
                    "type": "synonym"
                },
                {
                    "name": "Breast epithelial mucin-associated antigen",
                    "type": "synonym"
                },
                {
                    "name": "L-homocysteine-thiolactonase BPHL",
                    "type": "synonym"
                },
                {
                    "name": "MCNAA",
                    "type": "synonym"
                },
                {
                    "name": "VACVase",
                    "type": "synonym"
                },
                {
                    "name": "Valacyclovir hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Valacyclovirase",
                    "type": "synonym"
                },
                {
                    "name": "biphenyl hydrolase-like (serine hydrolase)",
                    "type": "synonym"
                },
                {
                    "name": "biphenyl hydrolase-related protein",
                    "type": "synonym"
                },
                {
                    "name": "breast epithelial mucin-associated antigen",
                    "type": "synonym"
                },
                {
                    "name": "serine hydrolase BPHL isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "serine hydrolase BPHL",
                    "type": "synonym"
                },
                {
                    "name": "valacyclovir hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "valacyclovirase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BPHL",
                    "type": "recommended"
                },
                {
                    "name": "BPH-RP",
                    "type": "synonym"
                },
                {
                    "name": "BPHL",
                    "type": "synonym"
                },
                {
                    "name": "MCNAA",
                    "type": "synonym"
                },
                {
                    "name": "VACVASE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86WA6-1",
            "evidence": [
                {
                    "id": "0070352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86W56-1",
            "uniprot_ac": "Q86W56",
            "uniprot_id": "PARG_HUMAN",
            "refseq_ac": "NP_001290415",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(ADP-ribose) glycohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.143",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial poly(ADP-ribose) glycohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "poly(ADP-ribose) glycohydrolase isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PARG",
                    "type": "recommended"
                },
                {
                    "name": "PARG99",
                    "type": "synonym"
                },
                {
                    "name": "PARG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86W56-1",
            "evidence": [
                {
                    "id": "0070352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070352"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070352"
}