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loading...| Preferred Name |
Osteopetrosis autosomal dominant type 1 |
|
| Synonyms |
Osteopetrosis, Autosomal Dominant 1 |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536056 |
|
| altLabel |
Osteopetrosis, Autosomal Dominant 1 Osteopetrosis, Autosomal Dominant, Type I |
|
| cui |
C1843330 |
|
| Has mapping qualifier | ||
| HM |
D010022/Q000151 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
3 |
|
| MMR |
20131106 |
|
| notation |
C536056 |
|
| prefLabel |
Osteopetrosis autosomal dominant type 1 |
|
| SC |
3 |
|
| Scope Statement |
mutationin LRP5 |
|
| TERMUI |
T804740 T804739 T738099 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |