Wikidata entity: Q55345866
| 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 | ... | Q18049573 (EARS2) | EARS2 |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P279 | subclass of | ... | Q10267817 (autosomal recessive disease) | autosomal recessive disease |
| P279 | subclass of | ... | Q18987134 (combined oxidative phosphorylation deficiency) | combined oxidative phosphorylation deficiency |
| P279 | subclass of | ... | Q19001236 (nervous system heredodegenerative disease) | nervous system heredodegenerative disease |
| P699 | Disease Ontology ID | DOID:0111493 |
| P4317 | GARD rare disease ID | 13381 |
| P7464 | Genetics Home Reference Conditions ID | leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate |
| P5270 | Mondo ID | MONDO_0013971 |
| P492 | OMIM ID | 614924 |
| P492 | OMIM ID | 614924 |
| P1550 | Orphanet ID | 314051 |
| P2892 | UMLS CUI | C3554079 |
| P2892 | UMLS CUI | C4706421 |
| P11430 | UniProt disease ID | DI-03612 |
Why not click here or view trends?
log id: 5780868