Hypochondrogenesis

Alias:
Achondrogenesis Type Ii/hypochondrogenesis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypochondrogenesis, also known as achondrogenesis type ii/hypochondrogenesis, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and achondrogenesis, type ii, and has symptoms including enlarged abdomen An important gene associated with Hypochondrogenesis 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 vertebral column, and related phenotypes are Increased gamma-H2AX phosphorylation and homeostasis/metabolism
Related ID:
MESH:C563007
ICD11:1494246635

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
14
99
3

Medical Symptom

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Gene & Mutation

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References Literature

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