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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Comorbidity C0033804|pseudohermaphroditism
Sentences 1
PubMedID- 20497763 A typical case exhibits 46 xy male karyotype and is characterized by male pseudohermaphroditism with cord-like gonadal structures as well as progressive nephropathy caused by fsgs.

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