loading...| Preferred Name | Osteogenesis imperfecta, type 2A | |
| Synonyms |
OI2A Osteogenesis imperfecta 2A OI, type IIA Osteogenesis imperfecta, type IIA Osteogenesis imperfecta congenita OI, type 2A Osteogenesis imperfecta, type 2A Vrolik Disease Osteogenesis Imperfecta, Type IIA Osteogenesis imperfecta congenita, perinatal lethal form Vrolik type of osteogenesis imperfecta |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536042 |
|
| altLabel |
OI2A Osteogenesis imperfecta 2A OI, type IIA Osteogenesis imperfecta, type IIA Osteogenesis imperfecta congenita OI, type 2A Osteogenesis imperfecta, type 2A Vrolik Disease Osteogenesis Imperfecta, Type IIA Osteogenesis imperfecta congenita, perinatal lethal form Vrolik type of osteogenesis imperfecta |
|
| cui |
C0268358 |
|
| HM |
D010013 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
59 |
|
| MMR |
20190620 |
|
| notation |
C536042 |
|
| prefLabel |
Osteogenesis imperfecta, type 2A |
|
| SC |
3 |
|
| Scope Statement |
A severe form of osteogenesis imperfecta that is characterized by broad and short long bones and beaded ribs. Respiratory insufficiency usually results in death during the perinatal period. It is associated with mutations in the COL1A2 or COL1A1 genes. OMIM: 166210 |
|
| TERMUI |
T738058 T738063 T000961540 T738062 T000961537 T738061 T000961538 T824879 T842215 |
|
| TH |
OMIM (2013) NLM (2019) GHR (2014) ORD (2010) |
|
| tui |
T047 T019 |