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ichthyosis-short stature-brachydactyly-microspherophakia syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Uniprot Description An autosomal recessive syndrome characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. Brachydactyly and decreased joint flexibility are present in some patients.
Mondo Term and Equivalent IDs
MONDO:0013176:  ichthyosis-short stature-brachydactyly-microspherophakia syndrome
MESH:C567710: 
Orphanet:363992: 
UMLS:C2750787: