|
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:
Echinobase Genes
:
pign
| MIM:614080 - multiple congenital anomalies-hypotonia-seizures syndrome 1; mcahs1 |
Other Model Organisms: Alliance, 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)