| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q18047904 (WDR73) | WDR73 |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P279 | subclass of | ... | Q55346091 (autosomal recessive congenital cerebellar ataxia) | autosomal recessive congenital cerebellar ataxia |
| P279 | subclass of | ... | Q55788215 (syndromic hereditary optic neuropathy) | syndromic hereditary optic neuropathy |
| P4317 | GARD rare disease ID | 9977 |
| P4229 | ICD-10-CM | G11.1 |
| P5270 | Mondo ID | MONDO_0019374 |
| P492 | OMIM ID | 606937 |
| P492 | OMIM ID | 606937 |
| P1550 | Orphanet ID | 83472 |
| P2892 | UMLS CUI | C1847114 |
| P2892 | UMLS CUI | C4511633 |
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log id: 1115948