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Disease association ontology term - MONDO:0100257 - peroxisomal single enzyme/protein defect

Term summary

ID
MONDO:0100257
Name
peroxisomal single enzyme/protein defect
Ontology or CV name
Disease association
Definition
Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.

Parents

Annotation

Disease association

MONDO:0013571 - acatalasia

References:

Genes:

MONDO:0015776 - rhizomelic chondrodysplasia punctata

References:

Genes:

MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

References:

Genes:

MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

References:

Genes: