Achondrogenesis, Type Ii (ACG2)

Alias:
Achondrogenesis Type Ii
Achondrogenesis Type 2
Achondrogenesis, Langer-Saldino Type
Acg2
Achondrogenesis, Type Ii or Hypochondrogenesis
Achondrogenesis-Hypochondrogenesis, Type Ii
Achondrogenesis-Hypochondrogenesis Type Ii
Achondrogenesis Langer-Saldino Type
Achondrogenesis, Type Ib, Formerly
Chondrogenesis Imperfecta
Hypochondrogenesis
Achondrogenesis 2
Acg-Ii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Achondrogenesis, Type Ii, also known as achondrogenesis type ii, is related to hypochondroplasia and spondyloepiphyseal dysplasia congenita. An important gene associated with Achondrogenesis, Type Ii is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone and eye, and related phenotypes are short long bone and abnormal bone ossification
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
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12
99
39

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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