{ "disease_id": "DOID:0070026", "recommended_name": { "id": "DOID:0070026", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070026", "name": "Revesz syndrome", "description": "A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0070026", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070026", "name": "DKCA5", "description": "" }, { "id": "DOID:0070026", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070026", "name": "Dyskeratosis Congenita, Autosomal Dominant 5", "description": "" }, { "id": "DOID:0070026", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070026", "name": "exudative retinopathy with bone marrow failure", "description": "" }, { "id": "MONDO:0009990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009990", "name": "Revesz syndrome", "description": "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." }, { "id": "MONDO:0009990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009990", "name": "DKCA5", "description": "" }, { "id": "MONDO:0009990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009990", "name": "Revesz syndrome", "description": "" }, { "id": "MONDO:0009990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009990", "name": "Revesz-DeBuse syndrome", "description": "" }, { "id": "MONDO:0009990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009990", "name": "dyskeratosis congenita with bilateral exudative retinopathy", "description": "" }, { "id": "MONDO:0009990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009990", "name": "dyskeratosis congenita, autosomal dominant 5", "description": "" }, { "id": "MONDO:0009990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009990", "name": "exudative retinopathy with bone marrow failure", "description": "" }, { "id": "MONDO:0009990", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009990", "name": "retinopathy-anemia-central nervous system anomalies syndrome", "description": "" }, { "id": "MIM:268130", "resource": "MIM", "url": "https://www.omim.org/entry/268130", "name": "Dyskeratosis congenita, autosomal dominant, 5", "description": "Dyskeratosis congenita, autosomal dominant, 5" } ], "children": [], "id_list": [ "DOID:0070026" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0070026", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070026", "categories": [] }, { "id": "MONDO:0009990", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009990", "categories": [] }, { "id": "MIM:268130", "database": "MIM", "url": "https://www.omim.org/entry/268130", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "F1R9M2-1", "uniprot_ac": "F1R9M2", "uniprot_id": "F1R9M2_DANRE", "refseq_ac": "NP_001373293", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "TERF1-interacting nuclear factor 2", "type": "synonym" } ], "gene_names": [ { "name": "tinf2", "type": "recommended" }, { "name": "TIN2", "type": "synonym" }, { "name": "tinf2", "type": "synonym" }, { "name": "wu:fi37c10", "type": "synonym" }, { "name": "zgc:158289", "type": "synonym" } ], "record_id": "F1R9M2-1", "evidence": [ { "id": "0070026", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070026" } ] }, { "uniprot_canonical_ac": "A0A8M2BBP5-1", "uniprot_ac": "A0A8M2BBP5", "uniprot_id": "A0A8M2BBP5_DANRE", "refseq_ac": "XP_005164569", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Uncharacterized protein isoform X1", "type": "synonym" }, { "name": "uncharacterized protein isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "zgc:113263", "type": "recommended" }, { "name": "zgc:113263", "type": "synonym" } ], "record_id": "A0A8M2BBP5-1", "evidence": [ { "id": "0070026", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070026" } ] }, { "uniprot_canonical_ac": "Q9QXG9-1", "uniprot_ac": "Q9QXG9", "uniprot_id": "TINF2_MOUSE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "TERF1-interacting nuclear factor 2", "type": "recommended" }, { "name": "TRF1-interacting nuclear protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Tinf2", "type": "recommended" }, { "name": "Tin2", "type": "synonym" } ], "record_id": "Q9QXG9-1", "evidence": [ { "id": "0070026", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070026" } ] }, { "uniprot_canonical_ac": "Q9BSI4-1", "uniprot_ac": "Q9BSI4", "uniprot_id": "TINF2_HUMAN", "refseq_ac": "NP_001092744", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "TERF1-interacting nuclear factor 2", "type": "recommended" }, { "name": "TERF1 (TRF1)-interacting nuclear factor 2", "type": "synonym" }, { "name": "TERF1-interacting nuclear factor 2 isoform 1", "type": "synonym" }, { "name": "TRF1-interacting nuclear protein 2", "type": "synonym" } ], "gene_names": [ { "name": "TINF2", "type": "recommended" }, { "name": "DKCA3", "type": "synonym" }, { "name": "DKCA5", "type": "synonym" }, { "name": "TIN2", "type": "synonym" }, { "name": "TINF2", "type": "synonym" } ], "record_id": "Q9BSI4-1", "evidence": [ { "id": "268130", "database": "MIM", "url": "https://www.omim.org/entry/268130" }, { "id": "0070026", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070026" } ] }, { "uniprot_canonical_ac": "A0ABK0LGH0-1", "uniprot_ac": "A0ABK0LGH0", "uniprot_id": "A0ABK0LGH0_RAT", "refseq_ac": "XP_063130196", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "TERF1 interacting nuclear factor 2", "type": "synonym" }, { "name": "TERF1-interacting nuclear factor 2 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Tinf2", "type": "recommended" }, { "name": "Tinf2", "type": "synonym" } ], "record_id": "A0ABK0LGH0-1", "evidence": [ { "id": "0070026", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070026" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0070026" }