abnormal carotid body morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of a small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control (Mammalian Phenotype Ontology, MP_0003437)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003437
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3 gene mutations causing the abnormal carotid body morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
EGLN3 egl-9 family hypoxia-inducible factor 3
PHOX2B paired-like homeobox 2b
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein