Wikidata entity: Q55782469
| 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 | ... | Q18028997 (MECP2) | MECP2 |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P1748 | NCI Thesaurus ID | String | C132293 | ??? |
| P279 | subclass of | ... | Q55010090 (X-linked recessive disease) | X-linked recessive disease |
| P279 | subclass of | ... | Q55785628 (monogenic disease with epilepsy) | monogenic disease with epilepsy |
| P279 | subclass of | ... | Q55789101 (neonatal epilepsy syndrome) | neonatal epilepsy syndrome |
| P279 | subclass of | ... | Q576349 (encephalopathy) | encephalopathy |
| P699 | Disease Ontology ID | DOID:0111932 |
| P4229 | ICD-10-CM | Q02 |
| P665 | KEGG ID | H01211 |
| P486 | MeSH descriptor ID | C566878 |
| P5270 | Mondo ID | MONDO_0010397 |
| P492 | OMIM ID | 300673 |
| P492 | OMIM ID | 300673 |
| P1550 | Orphanet ID | 209370 |
| P2892 | UMLS CUI | C1968556 |
| P2892 | UMLS CUI | C4749821 |
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log id: 5716853