Wikidata entity: Q55781749
| 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 | ... | Q18035939 (PNPLA6) | PNPLA6 |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P5008 | on focus list of Wikimedia project | ... | Q4099686 (WikiProject Medicine) | WikiProject Medicine |
| P279 | subclass of | ... | Q179630 (syndrome) | syndrome |
| P279 | subclass of | ... | Q10267817 (autosomal recessive disease) | autosomal recessive disease |
| P279 | subclass of | ... | Q55785843 (genetic movement disorder) | genetic movement disorder |
| P279 | subclass of | ... | Q55785846 (rare genetic developmental defect during embryogenesis) | rare genetic developmental defect during embryogenesis |
| P699 | Disease Ontology ID | DOID:0111265 |
| P4317 | GARD rare disease ID | 944 |
| P4229 | ICD-10-CM | G11.8 |
| P665 | KEGG ID | H02140 |
| P486 | MeSH descriptor ID | C565850 |
| P5270 | Mondo ID | MONDO_0008980 |
| P492 | OMIM ID | 215470 |
| P492 | OMIM ID | 215470 |
| P1550 | Orphanet ID | 1180 |
| P2892 | UMLS CUI | C1859093 |
| P11430 | UniProt disease ID | DI-04065 |
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log id: 5661756