Wikidata entity: Q53661584
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2888 | exact match | Url | Disease Ontology - Institute for Genome Sciences @ University of Maryland | ??? |
| P2293 | genetic association | ... | Q18047560 (TMEM107) | TMEM107 |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P31 | instance of | ... | Q55789477 (head and neck disease) | head and neck disease |
| 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 | ... | Q3508783 (oral-facial-digital syndrome) | oral-facial-digital syndrome |
| P279 | subclass of | ... | Q10267817 (autosomal recessive disease) | autosomal recessive disease |
| P699 | Disease Ontology ID | DOID:0080254 |
| P5270 | Mondo ID | MONDO_0033045 |
| P492 | OMIM ID | 617563 |
| P492 | OMIM ID | 617563 |
| P2892 | UMLS CUI | C4539729 |
| P11430 | UniProt disease ID | DI-05037 |
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