loading...| Preferred Name |
Campomelic Dysplasia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84609 |
| 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. |
| code |
C84609 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
| Contributing_Source |
NICHD Cellosaurus |
| DEFINITION |
A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects. |
| FULL_SYN |
CMD Campomelic Dysplasia |
| label |
Campomelic Dysplasia |
| Preferred_Name |
Campomelic Dysplasia |
| prefixIRI |
Thesaurus:C84609 |
| prefLabel |
Campomelic Dysplasia |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C1861922 |
| subClassOf |