has characteristic has characteristic has material basis in germline mutation in ABCC6 Autosomal recessive inheritance eye disorder autosomal recessive disease autosomal recessive inherited pseudoxanthoma elasticum https://github.com/monarch-initiative/mondo/issues/9285 https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum https://www.malacards.org/card/pseudoxanthoma_elasticum NORD:1629 MedDRA:10037150 MONDO:0009925 ICD9:757.39 Gronblad-Strandberg syndrome An autosomal recessive form of PXE. NCIT:C85036 Orphanet:758 Gronblad Strandberg syndrome Pseudoxanthoma Elasticum Gronblad-Strandberg-Touraine syndrome OMIM:264800 AR inherited pseudoxanthoma elasticum PXE pseudoxanthoma elasticum DOID:2738 SCTID:72744008 SCTID:402782006 MESH:D011561 GARD:0024699 icd11.foundation:1516160852 familial restrictive cardiomyopathy developmental defect during embryogenesis inherited hereditary disorder of connective tissue pseudoxanthoma elasticum (inherited or acquired) inherited pseudoxanthoma elasticum