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loading...| 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 |
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