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Disease association ontology term - MONDO:0019609 - Zellweger spectrum disorders

Term summary

ID
MONDO:0019609
Name
Zellweger spectrum disorders
Ontology or CV name
Disease association
Definition
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.

Parents

Annotation

Disease association

MONDO:0019609 - Zellweger spectrum disorders

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Genes:

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

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Genes:

MONDO:0054549 - peroxisome biogenesis disorder 10B

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Genes:

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

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MONDO:0013950 - peroxisome biogenesis disorder 11B

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Genes:

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

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

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Genes:

MONDO:0013967 - peroxisome biogenesis disorder 14B

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Genes:

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

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Genes:

MONDO:0011101 - peroxisome biogenesis disorder 1B

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Genes:

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

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MONDO:0008736 - peroxisome biogenesis disorder 2B

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Genes:

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

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

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Genes:

MONDO:0013931 - peroxisome biogenesis disorder 4B

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Genes:

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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Genes:

MONDO:0013939 - peroxisome biogenesis disorder 7B

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Genes:

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

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Genes:

MONDO:0013943 - peroxisome biogenesis disorder 8B

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Genes:

MONDO:0013945 - peroxisome biogenesis disorder 9B

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Genes:

MONDO:0100259 - peroxisome biogenesis disorder due to PEX1 defect

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Genes:

MONDO:0100263 - peroxisome biogenesis disorder due to PEX6 defect

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Genes:

MONDO:0009959 - peroxisome biogenesis disorder type 3B

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