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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 T738099 T804739 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |