Wikidata entity: Q55781317
| 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 | ... | Q14914258 (FGFR1) | FGFR1 |
| P31 | instance of | ... | Q55788864 (developmental defect during embryogenesis) | developmental defect during embryogenesis |
| P31 | instance of | ... | Q112193867 (class of disease) | class of disease |
| P31 | instance of | ... | Q929833 (rare disease) | rare disease |
| P279 | subclass of | ... | Q18553439 (autosomal dominant disease) | autosomal dominant disease |
| P279 | subclass of | ... | Q55788820 (primary bone dysplasia with disorganized development of skeletal components) | primary bone dysplasia with disorganized development of skeletal components |
| P279 | subclass of | ... | Q3251367 (osteochondrodysplasia) | osteochondrodysplasia |
| P699 | Disease Ontology ID | DOID:0111532 |
| P4317 | GARD rare disease ID | 4142 |
| P7464 | Genetics Home Reference Conditions ID | osteoglophonic-dysplasia |
| P4229 | ICD-10-CM | Q87.1 |
| P665 | KEGG ID | H00443 |
| P486 | MeSH descriptor ID | C536050 |
| P5270 | Mondo ID | MONDO_0008150 |
| P492 | OMIM ID | 166250 |
| P492 | OMIM ID | 166250 |
| P1550 | Orphanet ID | 2645 |
| P2892 | UMLS CUI | C0432283 |
| P11430 | UniProt disease ID | DI-02110 |
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