loading...| Preferred Name |
Osteogenesis imperfecta, type 3 |
|
| Synonyms |
Osteogenesis imperfecta, progressively deforming, with normal sclerae Osteogenesis Imperfecta, Type III OI3 Osteogenesis imperfecta 3 OI, type III Osteogenesis imperfecta, type III OI, type 3 Osteogenesis imperfecta, type 3 |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536044 |
|
| altLabel |
Osteogenesis imperfecta, progressively deforming, with normal sclerae Osteogenesis Imperfecta, Type III OI3 Osteogenesis imperfecta 3 OI, type III Osteogenesis imperfecta, type III OI, type 3 Osteogenesis imperfecta, type 3 |
|
| 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 |
T738070 T738068 T000961547 T000961545 T000961546 T824952 |
|
| TH |
OMIM (2013) NLM (2019) ORD (2010) |
|
| tui |
T047 |