Disease association ontology term - MONDO:0013563 - multiple congenital anomalies-hypotonia-seizures syndrome 1

Term summary

ID

MONDO:0013563

Name

multiple congenital anomalies-hypotonia-seizures syndrome 1

Ontology or CV name

Disease association

Definition

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.

Parents

• is_a developmental anomaly of metabolic origin
• is_a inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
• is_a multiple congenital anomalies-hypotonia-seizures syndrome

Annotation