multiple congenital anomalies-hypotonia-seizures syndrome 1

Summary

DOID:0080138 - multiple congenital anomalies-hypotonia-seizures syndrome 1

Disease Ontology Definition:A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pign

Mondo Disease Ontology (on Monarch Initiative):

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

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

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), multiple congenital anomalies-hypotonia-seizures syndrome (is_a), syndrome (is_a)