| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2888 | exact match | Url | Disease Ontology - Institute for Genome Sciences @ University of Maryland | ??? |
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q14907998 (DNMT1) | DNMT1 |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P31 | instance of | ... | Q55789477 (head and neck disease) | head and neck disease |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P5008 | on focus list of Wikimedia project | ... | Q4099686 (WikiProject Medicine) | WikiProject Medicine |
| P279 | subclass of | ... | Q55346087 (autosomal dominant cerebellar ataxia type I) | autosomal dominant cerebellar ataxia type I |
| P279 | subclass of | ... | Q55788734 (syndromic genetic deafness) | syndromic genetic deafness |
| P279 | subclass of | ... | Q622925 (Vestibulocerebellar syndrome) | Vestibulocerebellar syndrome |
| P279 | subclass of | ... | Q899726 (spinocerebellar ataxia) | spinocerebellar ataxia |
| P780 | symptoms and signs | ... | Q12133 (deafness) | deafness |
| P780 | symptoms and signs | ... | Q189561 (narcolepsy) | narcolepsy |
| P699 | Disease Ontology ID | DOID:0050968 |
| P4317 | GARD rare disease ID | 12372 |
| P5270 | Mondo ID | MONDO_0011397 |
| P492 | OMIM ID | 604121 |
| P492 | OMIM ID | 604121 |
| P1550 | Orphanet ID | 314404 |
| P2892 | UMLS CUI | C1858804 |
| P2892 | UMLS CUI | C3807295 |
| P2892 | UMLS CUI | C4302668 |
| P11430 | UniProt disease ID | DI-03793 |
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