Wikidata entity: Q21154045
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2888 | exact match | Url | None | ??? |
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q18047170 (DDX59) | DDX59 |
| 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 |
| P31 | instance of | ... | Q55789477 (head and neck disease) | head and neck disease |
| P5008 | on focus list of Wikimedia project | ... | Q4099686 (WikiProject Medicine) | WikiProject Medicine |
| P279 | subclass of | ... | Q3508783 (oral-facial-digital syndrome) | oral-facial-digital syndrome |
| P279 | subclass of | ... | Q10267817 (autosomal recessive disease) | autosomal recessive disease |
| P279 | subclass of | ... | Q55785866 (genetic syndromic intellectual disability) | genetic syndromic intellectual disability |
| P699 | Disease Ontology ID | DOID:0060375 |
| P4317 | GARD rare disease ID | 4120 |
| P4229 | ICD-10-CM | Q87.0 |
| P7807 | ICD-11 ID (Foundation) | 1559005665 |
| P486 | MeSH descriptor ID | C557819 |
| P5270 | Mondo ID | MONDO_0008267 |
| P492 | OMIM ID | 174300 |
| P492 | OMIM ID | 174300 |
| P1550 | Orphanet ID | 2919 |
| P2892 | UMLS CUI | C1868118 |
| P11430 | UniProt disease ID | DI-03935 |
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log id: 5976566