Wikidata entity: Q32136586
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2888 | exact match | Url | Disease Ontology - Institute for Genome Sciences @ University of Maryland | ??? |
| P2293 | genetic association | ... | Q14878377 (PTEN) | PTEN |
| 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 |
| P5008 | on focus list of Wikimedia project | ... | Q4099686 (WikiProject Medicine) | WikiProject Medicine |
| P279 | subclass of | ... | Q18553439 (autosomal dominant disease) | autosomal dominant disease |
| P279 | subclass of | ... | Q55785790 (rare disease with autism) | rare disease with autism |
| P279 | subclass of | ... | Q55785846 (rare genetic developmental defect during embryogenesis) | rare genetic developmental defect during embryogenesis |
| P279 | subclass of | ... | Q55786835 (other syndrome with a central nervous system malformation as major feature) | other syndrome with a central nervous system malformation as major feature |
| P699 | Disease Ontology ID | DOID:0060867 |
| P486 | MeSH descriptor ID | C565342 |
| P5270 | Mondo ID | MONDO_0011537 |
| P492 | OMIM ID | 605309 |
| P492 | OMIM ID | 605309 |
| P1550 | Orphanet ID | 210548 |
| P2892 | UMLS CUI | C1854416 |
| P2892 | UMLS CUI | C5190809 |
| P11430 | UniProt disease ID | DI-01924 |
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log id: 5466284