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46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description Characterized by the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity.
Mondo Term and Equivalent IDs
MONDO:0011766:  46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
MESH:C567773: 
Orphanet:168563: 
UMLS:C2751325: