distal arthrogryposis type 5

Term ID

DOID:0111608

Synonyms

• arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
• DA5
• DAIIB
• distal arthrogryposis type IIB
• distal arthrogryposis with ophthalmoplegia
• oculomelic amyoplasia

Definition

A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (2)

References

• GARD:4047
• MESH:C537737
• OMIM:108145
• SNOMEDCT_US_2021_09_01:715217004

Ontology

Human Disease   ( DOID:0111608 )