Zellweger spectrum disorders
ZS
exact
ZWS
exact
Zellweger leukodystrophy
related
Zellweger spectrum disorders
exact
Zellweger syndrome
exact
cerebrohepatorenal syndrome
exact
The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019234
peroxisome biogenesis disorder
is_a
SPBC13G1.03c SPCC553.03 SPBC646.15c SPAC3C7.10 SPAC29A4.14c SPAC1F12.04c SPBC17A3.10 SPCC16C4.04 SPBC582.09 SPAC17C9.14 SPBC725.07 SPAC17A5.01 SPAPB17E12.03 SPAC17D4.01