loading...| Preferred Name |
OSTEOGENESIS IMPERFECTA, TYPE IV |
|
| Synonyms |
OI4 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/166220 |
|
| altLabel |
OI4 OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE OI, TYPE IV |
|
| cui |
C0268363 |
|
| Gene Locus |
7q22.1 |
|
| Gene Symbol |
EDSCV EDSARTH2 COL1A2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU016486 http://purl.bioontology.org/ontology/OMIM/MTHU016485 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU016483 http://purl.bioontology.org/ontology/OMIM/MTHU016489 http://purl.bioontology.org/ontology/OMIM/MTHU067325 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU016487 http://purl.bioontology.org/ontology/OMIM/MTHU016482 http://purl.bioontology.org/ontology/OMIM/MTHU000033 http://purl.bioontology.org/ontology/OMIM/MTHU016484 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
166220 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
OSTEOGENESIS IMPERFECTA, TYPE IV |
|
| Scope Statement |
Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0003) [MOLECULAR BASIS] Often identified in newborn period [MISCELLANEOUS] Fractures decrease after puberty but increase after menopause [MISCELLANEOUS] Fractures occur in first few months, then decrease in frequency and then occur with ambulation [MISCELLANEOUS] Fractures can occur in utero, during labor and delivery, or in newborn period [MISCELLANEOUS] Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0004) [MOLECULAR BASIS] |
|
| tui |
T047 T019 |