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loading...| Preferred Name |
Stickler Syndrome Type 1 |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168733 |
| code |
C168733 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
Stickler syndrome inherited in an autosomal dominant pattern, caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. |
| FULL_SYN |
STL1 Stickler Syndrome Type 1 |
| label |
Stickler Syndrome Type 1 |
| Preferred_Name |
Stickler Syndrome Type 1 |
| prefixIRI |
Thesaurus:C168733 |
| prefLabel |
Stickler Syndrome Type 1 |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C2020284 |
| subClassOf |
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