Disease association ontology term - MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

Term summary

ID

MONDO:0010466

Name

multiple congenital anomalies-hypotonia-seizures syndrome 2

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 PIGA gene.

Parents

• is_a congenital nervous system disorder
• is_a developmental anomaly of metabolic origin
• is_a syndromic dyslipidemia
• is_a inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
• is_a genetic developmental and epileptic encephalopathy
• is_a multiple congenital anomalies-hypotonia-seizures syndrome

Annotation