| Learning / English Dictionary |
AUTOSOMAL
| Pronunciation (US): |  | (GB): | |
I. (adjective)
Sense 1
Meaning:
Of or relating to an autosome
Example:
autosomal gene
Classified under:
Relational adjectives (pertainyms)
Pertainym:
autosome (any chromosome that is not a sex chromosome; appear in pairs in body cells but as single chromosomes in spermatozoa)
Derivation:
autosome (any chromosome that is not a sex chromosome; appear in pairs in body cells but as single chromosomes in spermatozoa)
Context examples:
An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes.
(Melnick-Fraser Syndrome, NCI Thesaurus)
This gene plays a role in tissue homeostasis and mutations in the gene are associated with the onset of autosomal recessive retinitis pigmentosa.
(MERTK Gene, NCI Thesaurus)
Mutations in the gene have been associated with disruption of the retinal pigment epithelium phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa.
(MERTK wt Allele, NCI Thesaurus)
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase.
(Mucopolysaccharidosis Type IIIA, NCI Thesaurus)
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase.
(Mucopolysaccharidosis Type IIIB, NCI Thesaurus)
An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites.
(Multiple Endocrine Neoplasia, NCI Thesaurus)
A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes.
(Multiple Acyl-CoA Dehydrogenase Deficiency, NCI Thesaurus)
The condition is always transmitted through autosomal dominant inheritance.
(Multiple Endocrine Neoplasia Type 2A, NLM, Medical Subject Headings)
A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve.
(Multiple Self Healing Epithelioma of Ferguson-Smith, NCI Thesaurus)
A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene.
(Multiple Sulfatase Deficiency Disease, NCI Thesaurus)
