{
    "disease_id": "DOID:0081007",
    "recommended_name": {
        "id": "DOID:0081007",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081007",
        "name": "RNASET2-deficient cystic leukoencephalopathy",
        "description": "A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment."
    },
    "synonyms": [
        {
            "id": "DOID:0081007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081007",
            "name": "infantile-onset RNASET2 deficient cystic leukoencephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0081007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081007",
            "name": "cystic leukoencephalopathy without megalencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0013058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013058",
            "name": "cystic leukoencephalopathy without megalencephaly",
            "description": "Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive."
        },
        {
            "id": "MONDO:0013058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013058",
            "name": "CLWM",
            "description": ""
        },
        {
            "id": "MONDO:0013058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013058",
            "name": "RNAse T2-deficient leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MIM:612951",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612951",
            "name": "Leukoencephalopathy, cystic, without megalencephaly",
            "description": "Leukoencephalopathy, cystic, without megalencephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081007"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081007",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081007",
            "categories": []
        },
        {
            "id": "MONDO:0013058",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013058",
            "categories": []
        },
        {
            "id": "MIM:612951",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612951",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8XY56-1",
            "uniprot_ac": "B8XY56",
            "uniprot_id": "RNT2_DANRE",
            "refseq_ac": "NP_001025235",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease T2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "RNase Dre2",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease T2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rnaset2",
                    "type": "recommended"
                },
                {
                    "name": "dre2",
                    "type": "synonym"
                },
                {
                    "name": "fc10c06",
                    "type": "synonym"
                },
                {
                    "name": "rnaset2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc10c06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113369",
                    "type": "synonym"
                }
            ],
            "record_id": "B8XY56-1",
            "evidence": [
                {
                    "id": "0081007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "C0HKG5-1",
            "uniprot_ac": "C0HKG5",
            "uniprot_id": "RNT2A_MOUSE",
            "refseq_ac": "NP_001077407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease T2-A",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "Ribonuclease 6-A",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease 6-A",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease 6",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease T2-A isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease T2-A",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease T2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnaset2a",
                    "type": "recommended"
                },
                {
                    "name": "Rnaset2b",
                    "type": "recommended"
                },
                {
                    "name": "0610007O07Rik",
                    "type": "synonym"
                },
                {
                    "name": "4833423A10Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930532K22Rik",
                    "type": "synonym"
                },
                {
                    "name": "RNASE6PL",
                    "type": "synonym"
                },
                {
                    "name": "Rnase6pl",
                    "type": "synonym"
                },
                {
                    "name": "Rnaset2a",
                    "type": "synonym"
                },
                {
                    "name": "Rnaset2",
                    "type": "synonym"
                }
            ],
            "record_id": "C0HKG5-1",
            "evidence": [
                {
                    "id": "0081007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00584-1",
            "uniprot_ac": "O00584",
            "uniprot_id": "RNT2_HUMAN",
            "refseq_ac": "NP_003721",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease T2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "Ribonuclease 6",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease 6",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease T2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNASET2",
                    "type": "recommended"
                },
                {
                    "name": "RNASE6PL",
                    "type": "synonym"
                },
                {
                    "name": "RNASET2",
                    "type": "synonym"
                },
                {
                    "name": "bA514O12.3",
                    "type": "synonym"
                }
            ],
            "record_id": "O00584-1",
            "evidence": [
                {
                    "id": "612951",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612951"
                },
                {
                    "id": "0081007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02933-1",
            "uniprot_ac": "Q02933",
            "uniprot_id": "RNY1_YEAST",
            "refseq_ac": "NP_015202",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease T2-like",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "RNase T2-like",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease T2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNY1",
                    "type": "recommended"
                },
                {
                    "name": "RNY1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02933-1",
            "evidence": [
                {
                    "id": "0081007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCH6-1",
            "uniprot_ac": "D3ZCH6",
            "uniprot_id": "D3ZCH6_RAT",
            "refseq_ac": "NP_001099680",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease T2",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease T2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnaset2",
                    "type": "recommended"
                },
                {
                    "name": "Rnaset2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCH6-1",
            "evidence": [
                {
                    "id": "0081007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSC3-1",
            "uniprot_ac": "Q9VSC3",
            "uniprot_id": "Q9VSC3_DROME",
            "refseq_ac": "NP_523966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "4.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "CG8194-PA",
                    "type": "synonym"
                },
                {
                    "name": "RNaseX25-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ribonuclease X25",
                    "type": "synonym"
                },
                {
                    "name": "acid RNase",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease X25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNaseX25",
                    "type": "recommended"
                },
                {
                    "name": "CG8194",
                    "type": "synonym"
                },
                {
                    "name": "DmRNase-66B",
                    "type": "synonym"
                },
                {
                    "name": "DmRNase-X25",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8194",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8194",
                    "type": "synonym"
                },
                {
                    "name": "RNase X25",
                    "type": "synonym"
                },
                {
                    "name": "RNaseX25",
                    "type": "synonym"
                },
                {
                    "name": "Rny1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSC3-1",
            "evidence": [
                {
                    "id": "0081007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081007"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081007"
}