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loading...| Preferred Name |
Kniest Dysplasia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125594 |
| code |
C125594 |
| DEFINITION |
A rare, autosomal dominant inherited bone growth disorder caused by mutations in the COL2A1gene. It is characterized by short stature (dwarfism) and other skeletal abnormalities, round, flat face with bulging and wide-set eyes, myopia and retinal detachment that can lead to blindness. |
| label |
Kniest Dysplasia |
| Preferred_Name |
Kniest Dysplasia |
| prefixIRI |
C125594 |
| prefLabel |
Kniest Dysplasia |
| Semantic_Type |
Disease or Syndrome |
| subClassOf |