| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. (Human Disease Ontology, DOID_14694) |
| External Link | http://www.omim.org/entry/243800 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| UBR1 | ubiquitin protein ligase E3 component n-recognin 1 |
