| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q18033146 (SLC25A12) | SLC25A12 |
| 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 | ... | Q55789101 (neonatal epilepsy syndrome) | neonatal epilepsy syndrome |
| P279 | subclass of | ... | Q55785846 (rare genetic developmental defect during embryogenesis) | rare genetic developmental defect during embryogenesis |
| P279 | subclass of | ... | Q55786461 (mitochondrial substrate carrier disorder) | mitochondrial substrate carrier disorder |
| P4229 | ICD-10-CM | G31.8 |
| P665 | KEGG ID | H01305 |
| P486 | MeSH descriptor ID | C567847 |
| P5270 | Mondo ID | MONDO_0013056 |
| P492 | OMIM ID | 612949 |
| P492 | OMIM ID | 612949 |
| P1550 | Orphanet ID | 353217 |
| P2892 | UMLS CUI | C2751855 |
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log id: 3614189