|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). (Human Phenotype Ontology, HP_0009813)|
|Downloads & Tools|
2 genes associated with the upper limb phocomelia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.