upper limb phocomelia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009813
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Genes

2 genes associated with the upper limb phocomelia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
NSDHL NAD(P) dependent steroid dehydrogenase-like