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autosomal recessive inherited pseudoxanthoma elasticum | RareConnect | RareConnect.io

/autosomal recessive disease

/hereditary disorder of connective tissue

/inherited pseudoxanthoma elasticum

/autosomal recessive inherited pseudoxanthoma elasticum

autosomal recessive inherited pseudoxanthoma elasticum

Rare Disease

MONDO:0009925

Also Known As

AR inherited pseudoxanthoma elasticumGronblad-Strandberg syndromeGronblad-Strandberg-Touraine syndromePXEPseudoxanthoma ElasticumGronblad Strandberg syndromePXE, modifier of severity ofpseudoxanthoma elasticumpseudoxanthoma elasticum, modifier of severity of

Definition

An autosomal recessive form of PXE.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:264800 ↗

Orphanet

Orphanet:758 ↗

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