Terminology Service for NFDI4Health
Campomelic Dysplasia
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http://purl.obolibrary.org/obo/NCIT_C84609
A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects. [ ]
Term info
Label
Campomelic Dysplasia
Synonyms
- CMD
- Campomelic Dysplasia
Subsets
NCIT_C99147, NCIT_C90259, NCIT_C118467
ALT DEFINITION
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.
Contributing Source
NICHD
Has NICHD Parent
http://purl.obolibrary.org/obo/NCIT_C84978
NICHD Hierarchy Term
Campomelic Dysplasia
Preferred Name
Campomelic Dysplasia
Semantic Type
Disease or Syndrome
UMLS CUI
C1861922
code
C84609