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SLC26A2-related skeletal dysplasia

MONDO:0100592

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.

2 clinical trials for this condition and its sub-types.

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Sub-types

Diastrophic dysplasia (2) Achondrogenesis type IB (0) Atelosteogenesis type II (0) Multiple epiphyseal dysplasia type 4 (0)

Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Bone disorder (51) Human disease (15) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 1 Not yet finished but already full! 1
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