loading...| Preferred Name |
Osteoporosis-pseudoglioma syndrome |
| Synonyms |
Osteogenesis imperfecta, ocular form |
| ID |
http://purl.bioontology.org/ontology/MESH/C536063 |
| altLabel |
Osteogenesis imperfecta, ocular form Pseudoglioma with bone fragility |
| cui |
C0432252 |
| HM |
D010013 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
27 |
| MMR |
20160929 |
| notation |
C536063 |
| prefLabel |
Osteoporosis-pseudoglioma syndrome |
| SC |
3 |
| Scope Statement |
A congenital syndrome characterized by short stature, childhood-onset osteoporosis; MICROCEPHALY; severe ocular defects including blindness, MICROPHTHALMIA; pseudoglioma (intraocular opacity mimicking retinoblastoma), and intraocular calcification. Some patients may also have VENTRICULAR SEPTAL DEFECTS and neurologic symptoms. It is caused by mutations in the LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN (LRP5) gene. OMIM: 259770 |
| TERMUI |
T738123 T738124 T738120 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |