Disease association ontology term - MONDO:0100247 - multiple congenital anomalies-hypotonia-seizures syndrome

Term summary

ID: MONDO:0100247
Name: multiple congenital anomalies-hypotonia-seizures syndrome
Ontology or CV name: Disease association

Parents

is_a hereditary disease
is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Annotation

Disease association

MONDO:0032808 - developmental and epileptic encephalopathy, 77

References:

PB_REF:0000006

Genes:

gpi1 (SPBC30D10.11)

MONDO:0013563 - multiple congenital anomalies-hypotonia-seizures syndrome 1

References:

PB_REF:0000006

Genes:

its8 (SPBC839.08c)

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

References:

PB_REF:0000006

Genes:

gpi3 (SPBC3D6.07)

MONDO:0014165 - multiple congenital anomalies-hypotonia-seizures syndrome 3

References:

PB_REF:0000006

Genes:

gpi16 (SPBC1604.15)