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Metadata
DOID DOID:905
Name Zellweger syndrome
Definition A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
http://en.wikipedia.org/wiki/Zellweger_Syndrome, http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912
Xrefs

CSP2005:1849-1804

GARD:7917

ICD10CM:E71.510

MESH:D015211

NCI:C85239

OMIM:214100

ORDO:912

SNOMEDCT_US_2018_03_01:88469006

UMLS_CUI:C0043459

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

cerebrohepatorenal syndrome [EXACT]

congenital iron overload [EXACT]

peroxisome biogenesis disorder [EXACT]

Relationships

is_a peroxisomal biogenesis disorder

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