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joint laxity, short stature, and myopia

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment.
Mondo Term and Equivalent IDs
MONDO:0060556:  joint laxity, short stature, and myopia
Orphanet:527450: 
UMLS:C4540020: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found