| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. (Human Disease Ontology, DOID_0050814) |
| External Link | https://www.disgenet.org/browser/0/1/0/C1854466 |
| Similar Terms | |
| Downloads & Tools |
2 genes associated with the disease Temtamy Preaxial Brachydactyly Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
