Wikidata entity: Q27429764
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2888 | exact match | Url | Disease Ontology - Institute for Genome Sciences @ University of Maryland | ??? |
| P2293 | genetic association | ... | Q18036719 (SIPA1L3) | SIPA1L3 |
| P1995 | health specialty | ... | Q1071953 (medical genetics) | medical genetics |
| 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 | ... | Q127724 (cataract) | cataract |
| P279 | subclass of | ... | Q10267817 (autosomal recessive disease) | autosomal recessive disease |
| P699 | Disease Ontology ID | DOID:0110262 |
| P4229 | ICD-10-CM | Q12.0 |
| P5270 | Mondo ID | MONDO_0014799 |
| P492 | OMIM ID | 616851 |
| P492 | OMIM ID | 616851 |
| P2892 | UMLS CUI | C4225182 |
| P11430 | UniProt disease ID | DI-04671 |
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log id: 5647199