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deafness-infertility syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
Uniprot Description Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes.
Mondo Term and Equivalent IDs
MONDO:0012621:  deafness-infertility syndrome
GARD:0011911: 
MESH:C567010: 
Orphanet:94064: 
SCTID:700489002: