Epiphyseal Dysplasia, Multiple, 4 (EDM4)

Alias:

Edm4

Multiple Epiphyseal Dysplasia Type 4

Autosomal Recessive Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia 4

Polyepiphyseal Dysplasia Type 4

Med4

Rmed

Multiple Epiphyseal Dysplasia with Clubfoot

Multiple Epiphyseal Dysplasia with Bilayered Patellae

Multiple Epiphyseal Dysplasia with Bilateral Patellae

Multiple Epiphyseal Dysplasia, Autosomal Recessive

Dysplasia, Epiphyseal, Multiple, Type 4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Epiphyseal Dysplasia, Multiple, 4, also known as edm4, is related to multiple epiphyseal dysplasia and achondrogenesis, type ib, and has symptoms including arthralgia An important gene associated with Epiphyseal Dysplasia, Multiple, 4 is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and Collagen chain trimerization. Affiliated tissues include bone and lung, and related phenotypes are skeletal dysplasia and arthralgia

Related ID：

MALACARDS：EPP014

OMIM：226900

MESH：C535504