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hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Disease Summary
Associated Targets (0)

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Mondo Description This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.
Mondo Term and Equivalent IDs
MONDO:0016386:  hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
MESH:C538075: 
Orphanet:2235: 
UMLS:C2931722: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found