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DeCS
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Descriptor English:
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Pseudoxanthoma Elasticum
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Descriptor Spanish:
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Seudoxantoma Elástico
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Descriptor Portuguese:
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Pseudoxantoma Elástico
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Synonyms English:
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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
Gronblad-Strandberg Syndrome
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Tree Number:
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C14.907.454.530
C15.378.463.515.530
C16.131.831.766
C16.320.850.750
C17.300.766
C17.800.804.766
C17.800.827.750
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Definition English:
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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. |
Indexing Annotation English:
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in titles & translations use diacritic: Grönblad
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Allowable Qualifiers English:
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Record Number:
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11998
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Unique Identifier:
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D011561
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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