|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. (Human Phenotype Ontology, HP_0008857)|
|Downloads & Tools|
1 genes associated with the neonatal short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
|COL2A1||collagen, type II, alpha 1|