loading...| Preferred Name | Weill-Marchesani Syndrome | |
| Synonyms |
Weill-Marchesani Syndrome |
|
| Definitions |
A rare, autosomal recessive or dominant inherited connective tissue disorder. The autosomal recessive variant is caused by mutations in the ADAMTS10 gene. It is characterized by abnormalities in the lens of the eye, short stature, brachydactyly, and joint stiffness. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85226 |
|
| code |
C85226 |
|
| DEFINITION |
A rare, autosomal recessive or dominant inherited connective tissue disorder. The autosomal recessive variant is caused by mutations in the ADAMTS10 gene. It is characterized by abnormalities in the lens of the eye, short stature, brachydactyly, and joint stiffness. |
|
| FULL_SYN |
Weill-Marchesani Syndrome |
|
| label |
Weill-Marchesani Syndrome |
|
| Preferred_Name |
Weill-Marchesani Syndrome |
|
| prefixIRI |
Thesaurus:C85226 |
|
| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C190634 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C191866 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0265313 |
|
| subClassOf |