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Term:
peroxisome biogenesis disorder 1A
(DOID:0080476)
Annotations:
Rat: (18)
Mouse: (18)
Human: (20)
Chinchilla: (18)
Bonobo: (18)
Dog: (18)
Squirrel: (18)
Pig: (18)
Naked Mole-rat: (18)
Green Monkey: (17)
Parent Terms
Term With Siblings
Child Terms
peroxisomal biogenesis disorder
+
Zellweger syndrome
+
Cerebrohepatorenal Syndrome, Variant Types
Heimler syndrome 1
Heimler syndrome 2
peroxisome biogenesis disorder 10A
Peroxisome biogenesis disorder 10B
peroxisome biogenesis disorder 11A
Peroxisome biogenesis disorder 11B
peroxisome biogenesis disorder 12A
peroxisome biogenesis disorder 13A
peroxisome biogenesis disorder 1A
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)
peroxisome biogenesis disorder 1B
peroxisome biogenesis disorder 2A
peroxisome biogenesis disorder 2B
peroxisome biogenesis disorder 3A
peroxisome biogenesis disorder 3B
peroxisome biogenesis disorder 4A
Peroxisome biogenesis disorder 4B
peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 5B
peroxisome biogenesis disorder 6A
Peroxisome biogenesis disorder 6B
peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 7B
peroxisome biogenesis disorder 8A
Peroxisome biogenesis disorder 8B
Peroxisome Biogenesis Disorder, Complementation Group 1
Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group 12
Peroxisome Biogenesis Disorder, Complementation Group 13
Peroxisome Biogenesis Disorder, Complementation Group 14
+
Peroxisome Biogenesis Disorder, Complementation Group 7
Peroxisome Biogenesis Disorder, Complementation Group 9
+
Peroxisome Biogenesis Disorder, Complementation Group D
Peroxisome Biogenesis Disorder, Complementation Group E
Peroxisome Biogenesis Disorder, Complementation Group G
Peroxisome Biogenesis Disorder, Complementation Group H
Peroxisome Biogenesis Disorder, Complementation Group J
Peroxisome Biogenesis Disorder, Complementation Group K
Peroxisome Biogenesis Disorder, Complementation Group R
Pseudo-Zellweger Syndrome
Zellweger Leukodystrophy
Zellweger syndrome
+
Zellweger Syndrome 2
Synonyms
Exact Synonyms:
CG1 ; CGE ; PBD1A ; peroxisome biogenesis disorder 1A (Zellweger) ; peroxisome biogenesis disorder, complementation group 1 ; peroxisome biogenesis disorder, complementation group E
Primary IDs:
MIM:214100
Xrefs:
NCI:C155748
Definition Sources:
https://www.ncbi.nlm.nih.gov/pubmed/17055079
"DO" "DO"