autosomal recessive disease

Summary
Definition
An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
Super Class
autosomal genetic disease
Disease Ontology
DOID:0050737
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
10848 PPP1R13L protein phosphatase 1 regulatory subunit 13 like
54892 NCAPG2 non-SMC condensin II complex subunit G2
Displaying 1 entry
Gene ID Gene Symbol Description Source
76044 Ncapg2 non-SMC condensin II complex, subunit G2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024