About: multiple congenital anomalies-hypotonia-seizures syndrome 2

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About: multiple congenital anomalies-hypotonia-seizures syndrome 2 Goto Sponge NotDistinct Permalink

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Attributes	Values
type	Class
subClassOf	X-linked recessive disease multiple congenital anomalies-hypotonia-seizures syndrome nodeID://b50940475 nodeID://b50940476
label	multiple congenital anomalies-hypotonia-seizures syndrome 2 (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080139
has_alternative_id	DOID:0080466
database_cross_reference	GARD:12777 OMIM:300868 ORDO:300496
has_exact_synonym	developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 (en) glycosylphosphatidylinositol biosynthesis defect 4 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940477

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