| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). (Orphanet Rare Disease Ontology, Orphanet_2623) |
| External Link | http://www.omim.org/entry/231050 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Geleophysic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| ADAMTSL2 | ADAMTS-like 2 |
