autosomal recessive inherited pseudoxanthoma elasticum
An autosomal recessive form of PXE.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0016340
familial restrictive cardiomyopathy
excluded_subClassOf
MONDO:0019755
developmental defect during embryogenesis
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
MONDO:0100091
inherited pseudoxanthoma elasticum
is_a
AR inherited pseudoxanthoma elasticum
exact
Gronblad Strandberg syndrome
related
Gronblad-Strandberg syndrome
exact
Gronblad-Strandberg-Touraine syndrome
exact
PXE
narrow
Pseudoxanthoma Elasticum
narrow
SPBC359.05 SPAC30.04c SPAC3F10.11c SPAC9E9.12c