phocomelia Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). (Human Phenotype Ontology, HP_0009829)
Similar Terms
Downloads & Tools

Genes

2 genes co-occuring with the biological term phocomelia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
WNT7A wingless-type MMTV integration site family, member 7A