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loading...| Preferred Name |
Desbuquois Dysplasia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124056 |
| code |
C124056 |
| DEFINITION |
A rare osteochondrodysplasia characterized by short stature, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities, and advanced carpotarsal ossification. Two forms have been identified: type 1 caused by mutation in the gene CANT1 and type 2 caused by mutations in the gene XYLT1. |
| FULL_SYN |
DBQD Desbuquois Dysplasia |
| label |
Desbuquois Dysplasia |
| Preferred_Name |
Desbuquois Dysplasia |
| prefixIRI |
Thesaurus:C124056 |
| prefLabel |
Desbuquois Dysplasia |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0432242 |
| subClassOf |