Wikidata entity: Q5512866
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q18047441 (ANTXR1) | ANTXR1 |
| 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 |
| P279 | subclass of | ... | Q55785288 (multiple congenital anomalies/dysmorphic syndrome-intellectual disability) | multiple congenital anomalies/dysmorphic syndrome-intellectual disability |
| P279 | subclass of | ... | Q55785406 (malformation syndrome with odontal and/or periodontal component) | malformation syndrome with odontal and/or periodontal component |
| P279 | subclass of | ... | Q55785866 (genetic syndromic intellectual disability) | genetic syndromic intellectual disability |
| P279 | subclass of | ... | Q55788215 (syndromic hereditary optic neuropathy) | syndromic hereditary optic neuropathy |
| P4317 | GARD rare disease ID | 2573 |
| P4317 | GARD rare disease ID | 400 |
| P4229 | ICD-10-CM | Q87.8 |
| P7807 | ICD-11 ID (Foundation) | 909165198 |
| P6366 | Microsoft Academic ID (discontinued) | 2776728694 |
| P5270 | Mondo ID | MONDO_0009263 |
| P492 | OMIM ID | 230740 |
| P492 | OMIM ID | 230740 |
| P1550 | Orphanet ID | 2067 |
| P2892 | UMLS CUI | C0406723 |
| P11430 | UniProt disease ID | DI-03790 |
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log id: 5890809