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loading...| Preferred Name |
Stickler Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74984 |
| code |
C74984 |
| 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 |
| Contributing_Source |
NICHD Cellosaurus |
| DEFINITION |
A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities. |
| FULL_SYN |
Stickler Syndrome |
| label |
Stickler Syndrome |
| Legacy Concept Name |
Stickler_Syndrome |
| Preferred_Name |
Stickler Syndrome |
| prefixIRI |
Thesaurus:C74984 |
| prefLabel |
Stickler Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0265253 |
| subClassOf |
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