peroxisome biogenesis disorder
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0019046
leukodystrophy
is_a
MONDO:0019053
peroxisomal disease
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
PBD, ZSS
exact
PBD-ZSD
exact
PBD-ZSS
related
PBD-Zellweger spectrum disorder
related
ZSD
related
Zellweger spectrum
related
Zellweger spectrum disorder
related
Zellweger spectrum disorders
related
Zellweger syndrome spectrum
related
cerebrohepatorenal syndrome
narrow
disorders of peroxisome biogenesis
related
peroxisomal biogenesis disorders
exact
peroxisomal biogenesis disorders, Zellweger syndrome spectrum
exact
peroxisome biogenesis disorder
exact
peroxisome biogenesis disorder spectrum
exact
peroxisome biogenesis disorder-Zellweger syndrome spectrum
exact
peroxisome biogenesis disorders, Zellweger syndrome spectrum
exact
SPAC17A5.01 SPAC29A4.14c SPAC1F12.04c SPBC582.09 SPCC553.03 SPAC17D4.01 SPAC17C9.14 SPBC13G1.03c SPAPB17E12.03 SPCC16C4.04 SPBC725.07 SPBC17A3.10 SPAC3C7.10 SPBC646.15c