An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Symptoms Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.