Achondrogenesis

Alias:

Achondrogenesis Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Achondrogenesis, also known as achondrogenesis syndrome, is related to achondrogenesis, type ib and achondrogenesis, type ii. An important gene associated with Achondrogenesis 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 skin, and related phenotypes are macrocephaly and frontal bossing

Related ID：

MALACARDS：ACH011

MESH：C579878

ICD11：103965243