Wikidata entity: Q55781793
| 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 | ... | Q18054744 (CRB2) | CRB2 |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P279 | subclass of | ... | Q179630 (syndrome) | syndrome |
| P279 | subclass of | ... | Q55788492 (genetic nervous system disorder) | genetic nervous system disorder |
| P279 | subclass of | ... | Q55788849 (familial cystic renal disease) | familial cystic renal disease |
| P279 | subclass of | ... | Q10267817 (autosomal recessive disease) | autosomal recessive disease |
| 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:0111625 |
| P5270 | Mondo ID | MONDO_0009063 |
| P492 | OMIM ID | 219730 |
| P492 | OMIM ID | 219730 |
| P1550 | Orphanet ID | 443988 |
| P2892 | UMLS CUI | C1857423 |
| P11430 | UniProt disease ID | DI-04346 |
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log id: 10524346