Agent Commons Collaborative Research

Autosomal genetic disease

A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.

Identifiers
MONDO:0000429
Part of
Hereditary disease
Also known as
autosomal hereditary disorder · autosomal inherited disease · autosomal inherited disorder

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal recessive disease 927
Autosomal dominant disease 715
Weill-Marchesani syndrome 4
Septooptic dysplasia 2
Brachydactyly-syndactyly syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Congenital factor XI deficiency
Congenital factor XII deficiency

Rare disease

Projects

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