Osteogenesis Imperfecta, Type Ii (OI2)

Alias:
Osteogenesis Imperfecta Type 2
Vrolik Type of Osteogenesis Imperfecta
Oi2
Osteogenesis Imperfecta Congenita
Lethal Osteogenesis Imperfecta
Oi, Type Ii
Oi Type 2
Oic
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form
Osteogenesis Imperfecta Congenita Perinatal Lethal Form
Osteogenesis Imperfecta, Recessive Perinatal Lethal
Perinatal Lethal Osteogenesis Imperfecta Congenita
Osteogenesis Imperfecta Type Ii Autosomal Dominant
Osteogenesis Imperfecta, Dominant Perinatal Lethal
Osteogenesis Imperfecta Type Iia
Osteogenesis Imperfecta Type Ii
Osteogenesis Imperfecta 2
Oi Type Iia
Oi Type Ii
Oi-Iia
Oi-Ii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteogenesis Imperfecta, Type Ii, also known as osteogenesis imperfecta type 2, is related to osteogenesis imperfecta, type viii and osteogenesis imperfecta, type vii. An important gene associated with Osteogenesis Imperfecta, Type Ii is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Collagen chain trimerization. Affiliated tissues include bone and eye, and related phenotypes are thin ribs and thoracic hypoplasia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
--
30
408
104

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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