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 |
2 |
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 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/OMIM/607634 | Online Mendelian Inheritance in Man | CUI | |
http://purl.bioontology.org/ontology/OMIM/603506 | Online Mendelian Inheritance in Man | CUI |