| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. (Human Phenotype Ontology, HP_0005756) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0005756 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the neonatal epiphyseal stippling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| PRKAR1A | protein kinase, cAMP-dependent, regulatory, type I, alpha |
