[Pseudoxanthoma elasticum (PXE)]. 1977

O P Hornstein, and E Haneke

UI MeSH Term Description Entries
D011561 Pseudoxanthoma Elasticum An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE. Gronblad-Strandberg Syndrome,Groenblad-Strandberg Syndrome,Pseudoxanthoma Elasticum, Autosomal Dominant,Pseudoxanthoma Elasticum, Forme Fruste,Pseudoxanthoma Elasticum, Incomplete,Elasticum, Incomplete Pseudoxanthoma,Elasticums, Incomplete Pseudoxanthoma,Gronblad Strandberg Syndrome,Incomplete Pseudoxanthoma Elasticum,Incomplete Pseudoxanthoma Elasticums,Pseudoxanthoma Elasticums, Incomplete,Syndrome, Gronblad-Strandberg
D011674 Pulse The rhythmical expansion and contraction of an ARTERY produced by waves of pressure caused by the ejection of BLOOD from the left ventricle of the HEART as it contracts. Pulses
D005132 Eye Manifestations Ocular disorders attendant upon non-ocular disease or injury. Eye Manifestation,Manifestation, Eye,Manifestations, Eye
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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