loading...| Preferred Name |
OSTEOGENESIS IMPERFECTA, TYPE I |
|
| Synonyms |
OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/166200 |
|
| altLabel |
OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE OSTEOGENESIS IMPERFECTA TARDA OI, TYPE I OI1 |
|
| cui |
C0023931 |
|
| Gene Locus |
17q21.31-q22 |
|
| Gene Symbol |
OI2 COL1A1 OI4 OI1 OI3 EDSARTH1 CAFYD |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU009312 http://purl.bioontology.org/ontology/OMIM/MTHU016512 http://purl.bioontology.org/ontology/OMIM/MTHU016486 http://purl.bioontology.org/ontology/OMIM/MTHU000449 http://purl.bioontology.org/ontology/OMIM/MTHU016509 http://purl.bioontology.org/ontology/OMIM/MTHU036699 http://purl.bioontology.org/ontology/OMIM/MTHU005937 http://purl.bioontology.org/ontology/OMIM/MTHU016513 http://purl.bioontology.org/ontology/OMIM/MTHU016483 http://purl.bioontology.org/ontology/OMIM/MTHU016487 http://purl.bioontology.org/ontology/OMIM/MTHU003190 http://purl.bioontology.org/ontology/OMIM/MTHU000033 http://purl.bioontology.org/ontology/OMIM/MTHU016510 http://purl.bioontology.org/ontology/OMIM/MTHU002738 http://purl.bioontology.org/ontology/OMIM/MTHU031281 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
166240 |
|
| notation |
166200 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
OSTEOGENESIS IMPERFECTA, TYPE I |
|
| Scope Statement |
Fracture frequency increases after menopause and in men ages 60-80 [MISCELLANEOUS] Fractures often heal without deformity [MISCELLANEOUS] Fracture frequency constant through childhood, decreases after puberty [MISCELLANEOUS] Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0024) [MOLECULAR BASIS] Onset of fracture usually when child begins to walk [MISCELLANEOUS] |
|
| tui |
T047 |