Disease association ontology term - MONDO:0014348 - intellectual disability, autosomal recessive 42
Term summary
- ID
- MONDO:0014348
- Name
- intellectual disability, autosomal recessive 42
- Ontology or CV name
- Disease association
- Definition
- Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.