Dataset | ClinVar Gene-Phenotype Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_2732) |
External Link | http://www.omim.org/entry/268400 |
Similar Terms | |
Downloads & Tools |
1 genes associated with the Rothmund-Thomson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Symbol | Name |
---|---|
RECQL4 | RecQ protein-like 4 |