Osteogenesis Imperfecta, Type Vii (OI7)

Alias:
Osteogenesis Imperfecta Type Vii
Osteogenesis Imperfecta Type 7
Oi7
Osteogenesis Imperfecta, Type Iib, Formerly
Oi, Type Vii
Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive
Osteogenesis Imperfecta Type Ii Autosomal Recessive
Osteogenesis Imperfecta Type Iib
Osteogenesis Imperfecta 7
Oi2b, Formerly
Oi Type Iib
Oi Type Vii
Oi-Iib
Oi-Vii
Oi2b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteogenesis Imperfecta, Type Vii, also known as osteogenesis imperfecta type vii, is related to osteogenesis imperfecta, type ii and mucopolysaccharidosis iv. An important gene associated with Osteogenesis Imperfecta, Type Vii is CRTAP (Cartilage Associated Protein), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. Affiliated tissues include bone and lung, and related phenotypes are recurrent fractures and coxa vara
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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10
287
20

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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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
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IF
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