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Disease association ontology term - MONDO:0019053 - peroxisomal disease

Term summary

ID
MONDO:0019053
Name
peroxisomal disease
Ontology or CV name
Disease association
Definition
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.

Parents

Annotation

Disease association

MONDO:0019053 - peroxisomal disease

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MONDO:0013571 - acatalasia

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MONDO:0009958 - adult Refsum disease

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MONDO:0013726 - encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

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MONDO:0013948 - peroxisome biogenesis disorder 10A (Zellweger)

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MONDO:0054549 - peroxisome biogenesis disorder 10B

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MONDO:0013949 - peroxisome biogenesis disorder 11A (Zellweger)

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MONDO:0013950 - peroxisome biogenesis disorder 11B

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MONDO:0013951 - peroxisome biogenesis disorder 12A (Zellweger)

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MONDO:0013952 - peroxisome biogenesis disorder 13A (Zellweger)

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MONDO:0013967 - peroxisome biogenesis disorder 14B

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MONDO:0008953 - peroxisome biogenesis disorder 1A (Zellweger)

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MONDO:0011101 - peroxisome biogenesis disorder 1B

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MONDO:0008954 - peroxisome biogenesis disorder 2A (Zellweger)

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MONDO:0008736 - peroxisome biogenesis disorder 2B

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MONDO:0013927 - peroxisome biogenesis disorder 3A (Zellweger)

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MONDO:0013930 - peroxisome biogenesis disorder 4A (Zellweger)

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MONDO:0013931 - peroxisome biogenesis disorder 4B

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MONDO:0013936 - peroxisome biogenesis disorder 6A (Zellweger)

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MONDO:0013937 - peroxisome biogenesis disorder 6B

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MONDO:0013938 - peroxisome biogenesis disorder 7A (Zellweger)

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MONDO:0013939 - peroxisome biogenesis disorder 7B

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MONDO:0013942 - peroxisome biogenesis disorder 8A (Zellweger)

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MONDO:0013943 - peroxisome biogenesis disorder 8B

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MONDO:0013945 - peroxisome biogenesis disorder 9B

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MONDO:0100263 - peroxisome biogenesis disorder due to PEX6 defect

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MONDO:0009959 - peroxisome biogenesis disorder type 3B

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MONDO:0015776 - rhizomelic chondrodysplasia punctata

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MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

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MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

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MONDO:0019609 - Zellweger spectrum disorders

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