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