autosomal dominant intellectual developmental disorder 31

Term ID

DOID:0070061

Synonyms

• autosomal dominant mental retardation 31
• autosomal dominant non-syndromic intellectual disability 31
• MRD31

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. https://www.ncbi.nlm.nih.gov/pubmed/25439098

References

• MIM:616158

Ontology

Human Disease   ( DOID:0070061 )