| 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 | ... | Q18042968 (THOC2) | THOC2 |
| 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 | ... | Q55785400 (malformation syndrome with short stature) | malformation syndrome with short stature |
| P279 | subclass of | ... | Q8041560 (X-linked intellectual disability) | X-linked intellectual disability |
| P279 | subclass of | ... | Q55010090 (X-linked recessive disease) | X-linked recessive disease |
| P279 | subclass of | ... | Q55785288 (multiple congenital anomalies/dysmorphic syndrome-intellectual disability) | multiple congenital anomalies/dysmorphic syndrome-intellectual disability |
| P699 | Disease Ontology ID | DOID:0112056 |
| P5270 | Mondo ID | MONDO_0010496 |
| P492 | OMIM ID | 300957 |
| P492 | OMIM ID | 300957 |
| P1550 | Orphanet ID | 457240 |
| P2892 | UMLS CUI | C0796218 |
| P2892 | UMLS CUI | C5681122 |
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log id: 4585429