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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/166210
http://purl.bioontology.org/ontology/OMIM/166210
|
|---|---|
| Preferred Name | OSTEOGENESIS IMPERFECTA, TYPE II |
| Synonyms |
OSTEOGENESIS IMPERFECTA CONGENITA, PERINATAL LETHAL FORM
OIC
OI2
OSTEOGENESIS IMPERFECTA CONGENITA
VROLIK TYPE OF OSTEOGENESIS IMPERFECTA
OI, TYPE II
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OSTEOGENESIS IMPERFECTA CONGENITA, PERINATAL LETHAL FORM
OIC
OI2
OSTEOGENESIS IMPERFECTA CONGENITA
VROLIK TYPE OF OSTEOGENESIS IMPERFECTA
OI, TYPE II
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|---|---|
| prefLabel |
OSTEOGENESIS IMPERFECTA, TYPE II
|
| Gene Symbol |
EDSCV
EDSARTH2
COL1A2
|
| notation |
166210
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| 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]
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| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| Moved from |
259400
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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| Gene Locus |
7q22.1
|
| tui |
T047
T019
|
| cui |
C0268358
|
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