Wikidata entity: Q55395613
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q18035037 (RAD50) | RAD50 |
| 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 |
| P1748 | NCI Thesaurus ID | String | C153178 | ??? |
| P279 | subclass of | ... | Q55785832 (polymalformative genetic syndrome with increased risk of developing cancer) | polymalformative genetic syndrome with increased risk of developing cancer |
| P279 | subclass of | ... | Q55785846 (rare genetic developmental defect during embryogenesis) | rare genetic developmental defect during embryogenesis |
| P279 | subclass of | ... | Q1117773 (inherited tumor) | inherited tumor |
| P279 | subclass of | ... | Q5150906 (combined immunodeficiency) | combined immunodeficiency |
| P279 | subclass of | ... | Q55785290 (multiple congenital anomalies/dysmorphic syndrome without intellectual disability) | multiple congenital anomalies/dysmorphic syndrome without intellectual disability |
| P279 | subclass of | ... | Q55785399 (developmental anomaly of metabolic origin) | developmental anomaly of metabolic origin |
| P279 | subclass of | ... | Q55785655 (DNA repair defect other than combined T-cell and B-cell immunodeficiencies) | DNA repair defect other than combined T-cell and B-cell immunodeficiencies |
| P486 | MeSH descriptor ID | C567767 |
| P5270 | Mondo ID | MONDO_0013118 |
| P492 | OMIM ID | 613078 |
| P492 | OMIM ID | 613078 |
| P1550 | Orphanet ID | 240760 |
| P2892 | UMLS CUI | C2751318 |
| P11430 | UniProt disease ID | DI-02806 |
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