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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | XDH | Human | Autoinflammation with Infantile Enterocolitis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar | PMID:28492532 | XDH | Human | cataract | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract | ClinVar | PMID:25741868 more ... | XDH | Human | Dwarfism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:25741868 more ... | XDH | Human | Eczema | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eczema | ClinVar | PMID:25741868 more ... | XDH | Human | familial cold autoinflammatory syndrome 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 | ClinVar | PMID:28492532 | XDH | Human | Fetal Growth Retardation | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intrauterine growth restriction | ClinVar | PMID:25741868 more ... | XDH | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | XDH | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | XDH | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | XDH | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | XDH | Human | hereditary spastic paraplegia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar | PMID:28492532 | XDH | Human | hydronephrosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hydronephrosis | ClinVar | PMID:25741868 more ... | XDH | Human | neutropenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neutropenia | ClinVar | PMID:25741868 more ... | XDH | Human | protein-losing enteropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Protein-losing enteropathy | ClinVar | PMID:25741868 | XDH | Human | protein-losing enteropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Protein-losing enteropathy | ClinVar | PMID:25741868 more ... | XDH | Human | Pseudovaginal Perineoscrotal Hypospadias | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar | PMID:18384427 and PMID:28492532 | XDH | Human | thrombocytopenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:25741868 more ... | XDH | Human | Urachal Cyst | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Urachal cyst | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:25741868 | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:27735924 and PMID:28492532 | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:18300946 and PMID:28492532 | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:26110747 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:16199547 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:22981351 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:20077140 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:16199547 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:17576681 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:17368066 and PMID:28492532 | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:24033266 | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:11379872 | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:9153281 | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:25823988 | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:22981351 more ... | XDH | Human | xanthinuria | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: XDH deficiency | ClinVar | PMID:25741868 and PMID:28492532 | XDH | Human | xanthinuria type I | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH-related condition | ClinVar | PMID:22981351 more ... | XDH | Human | xanthinuria type I | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: XDH-related condition | ClinVar | PMID:25741868 and PMID:28492532 | XDH | Human | xanthinuria type I | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH-related condition | ClinVar | | XDH | Human | xanthinuria type I | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: XDH-related condition | ClinVar | PMID:28492532 | XDH | Human | xanthinuria type I | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH-related condition | ClinVar | PMID:16199547 more ... | XDH | Human | xanthinuria type I | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH-related condition | ClinVar | PMID:27735924 and PMID:28492532 | XDH | Human | xanthinuria type I | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: XDH-related condition | ClinVar | PMID:17368066 and PMID:28492532 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:22981351 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:25741868 and PMID:28492532 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:27735924 and PMID:28492532 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:18300946 and PMID:28492532 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:28492532 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:28492532 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:28492532 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:16199547 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:17576681 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:26110747 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:21963464 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:16199547 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:10844591 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:22981351 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:20077140 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:18384427 and PMID:28492532 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:16199547 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:16199547 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:28492532 and PMID:9153281 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:25741868 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:25741868 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:28492532 and PMID:32067994 | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:17576681 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:18300946 more ... | XDH | Human | xanthinuria type II | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Xanthinuria type II | ClinVar | PMID:17368066 and PMID:28492532 | |