loading...| Preferred Name |
OSTEOGENESIS IMPERFECTA, TYPE II |
|
| Synonyms |
OSTEOGENESIS IMPERFECTA CONGENITA, PERINATAL LETHAL FORM |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/166210 |
|
| altLabel |
OSTEOGENESIS IMPERFECTA CONGENITA, PERINATAL LETHAL FORM OIC OI2 OSTEOGENESIS IMPERFECTA CONGENITA VROLIK TYPE OF OSTEOGENESIS IMPERFECTA OI, TYPE II |
|
| cui |
C0268358 |
|
| Gene Locus |
7q22.1 |
|
| Gene Symbol |
EDSCV EDSARTH2 COL1A2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU016498 http://purl.bioontology.org/ontology/OMIM/MTHU016496 http://purl.bioontology.org/ontology/OMIM/MTHU000581 http://purl.bioontology.org/ontology/OMIM/MTHU009025 http://purl.bioontology.org/ontology/OMIM/MTHU014357 http://purl.bioontology.org/ontology/OMIM/MTHU016502 http://purl.bioontology.org/ontology/OMIM/MTHU036699 http://purl.bioontology.org/ontology/OMIM/MTHU005937 http://purl.bioontology.org/ontology/OMIM/MTHU000565 http://purl.bioontology.org/ontology/OMIM/MTHU016500 http://purl.bioontology.org/ontology/OMIM/MTHU016497 http://purl.bioontology.org/ontology/OMIM/MTHU012189 http://purl.bioontology.org/ontology/OMIM/MTHU016499 http://purl.bioontology.org/ontology/OMIM/MTHU000033 http://purl.bioontology.org/ontology/OMIM/MTHU005753 http://purl.bioontology.org/ontology/OMIM/MTHU001501 http://purl.bioontology.org/ontology/OMIM/MTHU012761 http://purl.bioontology.org/ontology/OMIM/MTHU002595 http://purl.bioontology.org/ontology/OMIM/MTHU014846 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
259400 |
|
| notation |
166210 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
OSTEOGENESIS IMPERFECTA, TYPE II |
|
| Scope Statement |
Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0001) [MOLECULAR BASIS] Survival greater than one year rare [MISCELLANEOUS] Gonadal and somatic mosaicism reported in parent [MISCELLANEOUS] Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0007) [MOLECULAR BASIS] Perinatal lethal [MISCELLANEOUS] Ultrasound detection in second trimester of pregnancy [MISCELLANEOUS] |
|
| tui |
T047 T019 |