| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q18039712 (DSE) | DSE |
| P2293 | genetic association | ... | Q18048897 (CHST14) | CHST14 |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P1748 | NCI Thesaurus ID | String | C168975 | ??? |
| P279 | subclass of | ... | Q1141499 (Ehlers-Danlos syndrome) | Ehlers-Danlos syndrome |
| P279 | subclass of | ... | Q55785601 (rare abdominal surgical disease) | rare abdominal surgical disease |
| P279 | subclass of | ... | Q55787318 (disorder of O-xylosylglycan synthesis) | disorder of O-xylosylglycan synthesis |
| P279 | subclass of | ... | Q55787867 (congenital disorder of glycosylation with neurological involvement) | congenital disorder of glycosylation with neurological involvement |
| P279 | subclass of | ... | Q55787895 (congenital disorder of glycosylation with cardiac malformation as a major feature) | congenital disorder of glycosylation with cardiac malformation as a major feature |
| P279 | subclass of | ... | Q55787916 (congenital disorder of glycosylation with skin involvement) | congenital disorder of glycosylation with skin involvement |
| P279 | subclass of | ... | Q55787917 (congenital disorder of glycosylation with nephropathy as a major feature) | congenital disorder of glycosylation with nephropathy as a major feature |
| P4317 | GARD rare disease ID | 545 |
| P4317 | GARD rare disease ID | 8486 |
| P4229 | ICD-10-CM | Q79.6 |
| P665 | KEGG ID | H02246 |
| P486 | MeSH descriptor ID | C000600608 |
| P5270 | Mondo ID | MONDO_0011142 |
| P492 | OMIM ID | 601776 |
| P492 | OMIM ID | 601776 |
| P1550 | Orphanet ID | 2953 |
| P2892 | UMLS CUI | C1866294 |
| P2892 | UMLS CUI | C2931780 |
| P11430 | UniProt disease ID | DI-02810 |
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