Wikidata entity: Q4943512
Quantities
| P1193 | prevalence | 0.000000001282907 |
| 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 | ... | Q17928818 (FLNB) | FLNB |
| P1995 | health specialty | ... | Q1071953 (medical genetics) | medical genetics |
| P1692 | ICD-9-CM | String | 756.9 | ??? |
| 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 |
| P5008 | on focus list of Wikimedia project | ... | Q4099686 (WikiProject Medicine) | WikiProject Medicine |
| P279 | subclass of | ... | Q55788802 (filamin-related bone disorder) | filamin-related bone disorder |
| P279 | subclass of | ... | Q55788812 (primary bone dysplasia with multiple joint dislocations) | primary bone dysplasia with multiple joint dislocations |
| P279 | subclass of | ... | Q3251367 (osteochondrodysplasia) | osteochondrodysplasia |
| P699 | Disease Ontology ID | DOID:0050680 |
| P4317 | GARD rare disease ID | 933 |
| P668 | GeneReviews ID | NBK2534 |
| P7464 | Genetics Home Reference Conditions ID | boomerang-dysplasia |
| P494 | ICD-10 ID | Q68.5 |
| P4229 | ICD-10-CM | Q87.1 |
| P493 | ICD-9 ID | 754.44 |
| P665 | KEGG ID | H02067 |
| P3201 | Medical Dictionary for Regulatory Activities ID | 10010388 |
| P486 | MeSH descriptor ID | C536573 |
| P6366 | Microsoft Academic ID (discontinued) | 2780985116 |
| P5270 | Mondo ID | MONDO_0007208 |
| P492 | OMIM ID | 112310 |
| P492 | OMIM ID | 112310 |
| P1550 | Orphanet ID | 1263 |
| P5806 | SNOMED CT ID | 254054000 |
| P2892 | UMLS CUI | C0432201 |
| P11430 | UniProt disease ID | DI-01289 |
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