| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q14912139 (ITGA3) | ITGA3 |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P279 | subclass of | ... | Q3726862 (junctional epidermolysis bullosa) | junctional epidermolysis bullosa |
| P279 | subclass of | ... | Q55785522 (rare genetic respiratory disease) | rare genetic respiratory disease |
| P279 | subclass of | ... | Q55786731 (primary interstitial lung disease specific to childhood due to alveolar structure disorder) | primary interstitial lung disease specific to childhood due to alveolar structure disorder |
| P279 | subclass of | ... | Q55788834 (disease of glomerular basement membrane) | disease of glomerular basement membrane |
| P5270 | Mondo ID | MONDO_0013881 |
| P492 | OMIM ID | 614748 |
| P492 | OMIM ID | 614748 |
| P1550 | Orphanet ID | 306504 |
| P2892 | UMLS CUI | C3553636 |
| P2892 | UMLS CUI | C4518785 |
| P11430 | UniProt disease ID | DI-03509 |
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log id: 4818647