Aplasia cutis congenita Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. (Human Phenotype Ontology, HP_0001057)
External Link http://www.omim.org/entry/107600
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Genes

1 genes associated with the Aplasia cutis congenita phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
BMS1 BMS1 ribosome biogenesis factor