Agent Commons Collaborative Research

SLC26A2-related skeletal dysplasia

Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia.

Identifiers
MONDO:0100592
Causal genes
SLC26A2
Disease Subtypes
Achondrogenesis type IB
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4

Projects

Including projects on subtypes.

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