DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive disease

Autosomal recessive disease [DOID:0050737]

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.

Synonyms:  autosomal recessive disease,  autosomal recessive disorder,  autosomal recessive syndrome,  DOID:0050737