Preferred Name |
Osteogenesis imperfecta, type 3 |
Synonyms |
Osteogenesis Imperfecta, Type III |
ID |
http://purl.bioontology.org/ontology/MESH/C536044 |
altLabel |
Osteogenesis Imperfecta, Type III OI3 Osteogenesis imperfecta 3 OI, type 3 Osteogenesis imperfecta, type 3 OI, type III Osteogenesis imperfecta, type III Osteogenesis imperfecta, progressively deforming, with normal sclerae |
cui |
C0268362 |
HM |
D010013 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20100825 |
MeSH Frequency |
48 |
MMR |
20190620 |
notation |
C536044 |
prefLabel |
Osteogenesis imperfecta, type 3 |
SC |
3 |
Scope Statement |
An autosomal dominant form of osteogenesis imperfecta caused by mutations in the COL1A1 or COL1A2 genes. OMIM: 259420 |
TERMUI |
T738068 T000961545 T000961546 T824952 T000961547 T738070 |
TH |
ORD (2010) OMIM (2013) NLM (2019) |
tui |
T047 |