Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders.

ABSTRACT: In the rapidly growing group of rare genetic disorders, data scarcity demands an intelligible use of available data, in order to improve understanding of underlying pathophysiology. We hypothesize, based on the principle that clinical similarities may be indicative of shared pathophysiology, that determining phenotypic specificity could provide unsuspected insights in pathophysiology of rare genetic disorders. We explored our hypothesis by studying subunit deficiencies of the conserved oligomeric Golgi (COG) complex, a subgroup of congenital disorders of glycosylation (CDG). In this systematic data assessment, all 45 reported patients with COG-CDG were included. The vocabulary of the Human Phenotype Ontology was used to annotate all phenotypic features and to assess occurrence in other gen

SUBMITTER: Haijes HA 

PROVIDER: S-EPMC7383723 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature