Wikidata entity: Q55345873
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2293 | genetic association | ... | Q18037071 (BICD2) | BICD2 |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P1748 | NCI Thesaurus ID | String | C191766 | ??? |
| P279 | subclass of | ... | Q19001236 (nervous system heredodegenerative disease) | nervous system heredodegenerative disease |
| P279 | subclass of | ... | Q56014108 (autosomal dominant childhood-onset proximal spinal muscular atrophy) | autosomal dominant childhood-onset proximal spinal muscular atrophy |
| P4229 | ICD-10-CM | G12.1 |
| P5270 | Mondo ID | MONDO_0014121 |
| P492 | OMIM ID | 615290 |
| P492 | OMIM ID | 615290 |
| P1550 | Orphanet ID | 363454 |
| P2892 | UMLS CUI | C3809049 |
| P2892 | UMLS CUI | C4747715 |
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log id: 4756273