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cataract-intellectual disability-hypogonadism syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
Uniprot Description Characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0008929:  cataract-intellectual disability-hypogonadism syndrome
DOID:0111586: 
GARD:0003406: 
MESH:C536028: 
Orphanet:1387: 
SCTID:722380003: 
UMLS:C0796037: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)