Wikidata entity: Q28065615
| P2888 | exact match | Url | Ontology Lookup Service (OLS) | ??? |
| P2888 | exact match | Url | Disease Ontology - Institute for Genome Sciences @ University of Maryland | ??? |
| P2293 | genetic association | ... | Q18035005 (HUWE1) | HUWE1 |
| P1995 | health specialty | ... | Q1071953 (medical genetics) | medical genetics |
| P31 | instance of | ... | Q929833 (rare disease) | rare 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 | ... | Q8041560 (X-linked intellectual disability) | X-linked intellectual disability |
| P699 | Disease Ontology ID | DOID:0060811 |
| P4229 | ICD-10-CM | Q87.8 |
| P486 | MeSH descriptor ID | C567476 |
| P5270 | Mondo ID | MONDO_0010407 |
| P492 | OMIM ID | 300706 |
| P492 | OMIM ID | 300706 |
| P492 | OMIM ID | 309590 |
| P492 | OMIM ID | 309590 |
| P1550 | Orphanet ID | 3056 |
| P1550 | Orphanet ID | 85328 |
| P2892 | UMLS CUI | C2678046 |
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log id: 6076718