Achondrogenesis, Type Ii (ACG2)

Achondrogenesis, Type Ii(来自ICD-11)

别称:

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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