Disease_Mapped_To_Gene
Pediatric Endocrinology Terminology
Cellosaurus Disease Terminology
Cellosaurus Terminology
Rare Non-Neoplastic Disorder
SOX9 Gene
Campomelic Dysplasia
A condition associated with heterozygous mutation(s) in the SOX9 gene, characterized in 46,XY individuals by atypical development of the gonads ("sex reversal"), internal and external reproductive structures, with (campomelic) or without (acampomelic) skeletal dysplasia.
A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects.
C1861922
C84609
CMD
Campomelic Dysplasia
Campomelic Dysplasia
Cellosaurus
Disease or Syndrome
NICHD
NICHD Terminology
Neonatal Research Network Terminology