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peroxisome biogenesis disorder

Disease Summary
Associated Targets (20)
Tbio

19

Tchem

1


Explore Associated Targets
Mondo Description 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 Term and Equivalent IDs
MONDO:0019234:  peroxisome biogenesis disorder
GARD:0009473: 
GARD:0011890: 
MESH:C531857: 
MESH:C536664: 
NCIT:C146639: 
OMIMPS:214100: 
Orphanet:79189: 
SCTID:742876007: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found